Allele Registry

Canonical Allele Identifier: PA167952

Gene: BRCA1 HGNC NCBI

ClinVar RCV:

RCV000048034

RCV000111977

RCV000131313

RCV003159094

RCV003226180

RCV003607223

ClinVar Variation:

54742

HGVS (amino-acid)	Matching Registered Transcripts
NP_009225.1:p.Glu1000Lys	CA001951 NM_007294.4:c.2998G>A