Allele Registry

Canonical Allele Identifier: PA2573253009

Gene: BRCA1 HGNC NCBI

ClinVar RCV:

RCV002258761

RCV002304241

ClinVar Variation:

1692963

HGVS (amino-acid)	Matching Registered Transcripts
NP_009228.2:p.Ser993Ile	CA10595746 NM_007297.4:c.2978G>T