Allele Registry

Canonical Allele Identifier: PA915992269

Gene: BRCA1 HGNC NCBI

ClinVar RCV:

RCV000019239

RCV000034739

RCV000048074

RCV000120293

RCV000128951

RCV000456692

RCV002476991

ClinVar Variation:

17670

HGVS (amino-acid)	Matching Registered Transcripts
NP_009228.2:p.Ser993Asn	CA002038 NM_007297.4:c.2978G>A