Allele Registry

Canonical Allele Identifier: PA645452151

Gene: BRCA1 HGNC NCBI

MaveDb:

Score -2.0230407342

Score -1.3263531475

Score -1.7082889221

ClinVar RCV:

RCV000479434

RCV001076443

ClinVar Variation:

422674

HGVS (amino-acid)	Matching Registered Transcripts
NP_009225.1:p.Ser1715Ile	CA10591256 NM_007294.4:c.5144G>T