Allele Registry

Canonical Allele Identifier: PA916000111

Gene: BRCA1 HGNC NCBI

ClinVar RCV:

RCV000577235

RCV003157374

ClinVar Variation:

54990

HGVS (amino-acid)	Matching Registered Transcripts
NP_009231.2:p.Ser1253Tyr	CA002408 NM_007300.4:c.3758C>A