Canonical Allele Identifier: PA2829693319
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 54979
ClinVar RCV Id: RCV000048302 RCV000130833 RCV000112164 RCV002228165 RCV001719802
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_009228.2:p.Ser1194Tyr
CA002389
NM_007297.4:c.3581C>A