Allele Registry

Canonical Allele Identifier: PA916000061

Gene: BRCA1 HGNC NCBI

ClinVar RCV:

RCV000048302

RCV000112164

RCV000130833

RCV001719802

RCV002228165

ClinVar Variation:

54979

HGVS (amino-acid)	Matching Registered Transcripts
NP_009231.2:p.Ser1241Tyr	CA002389 NM_007300.4:c.3722C>A