Allele Registry

Canonical Allele Identifier: PA2829698008

Gene: BRCA1 HGNC NCBI

ClinVar RCV:

RCV000588419

RCV001077304

ClinVar Variation:

496395

HGVS (amino-acid)	Matching Registered Transcripts
NP_009228.2:p.Ser1749Leu	CA10590699 NM_007297.4:c.5246C>T