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Reference
Citation
FlyBase curators, (2019-). Curation of disease-implicated variant information. 
FlyBase ID
FBrf0243121
Publication Type
FlyBase analysis
Abstract
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For alleles representing disease-implicated variants, positional information presented in standardized formats, using modified HGVS formats; typically for protein component only. Applies to human genes introduced into flies, analogous mutations in orthologous fly genes, and (less commonly) analogous mutations in orthologous mammalian genes. Cross references curated, if available; order of preference: ClinVar, NCBI (https://www.ncbi.nlm.nih.gov/clinvar/), UniProtKB/Swiss-Prot variant (https://web.expasy.org/variant_pages/). ClinVar provides links to UniProt variant information, so this information is not captured redundantly.

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    Language of Publication
    English
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    Data From Reference
    Alleles (1366)
    List limited to the first 200 records. Use the HitList export button in the left sidebar to view all records.
    Genes (391)
    List limited to the first 200 records. Use the HitList export button in the left sidebar to view all records.
    Human Disease Models (356)
    List limited to the first 200 records. Use the HitList export button in the left sidebar to view all records.