Allele Registry

Canonical Allele Identifier: PA915996816

Gene: BRCA1 HGNC NCBI

ClinVar Allele:

68983

ClinVar RCV:

RCV000111659

RCV001349061

RCV001526173

RCV001811334

RCV002250526

ClinVar Variation:

54316

HGVS (amino-acid)	Matching Registered Transcripts
NP_009231.2:p.Ile548Val	CA001087 NM_007300.4:c.1642A>G