Allele Registry

Canonical Allele Identifier: PA3057346229

Gene: BRCA1 HGNC NCBI

ClinVar RCV:

RCV004719447

ClinVar Variation:

3340195

HGVS (amino-acid)	Matching Registered Transcripts
NP_009231.2:p.Cys1251Ser	CA10594468 NM_007300.4:c.3752G>C CA10594470 NM_007300.4:c.3751T>A