Allele Registry

Canonical Allele Identifier: PA2829693319

Gene: BRCA1 HGNC NCBI

ClinVar RCV:

RCV000048302

RCV000112164

RCV000130833

RCV001719802

RCV002228165

ClinVar Variation:

54979

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