Allele Registry

Canonical Allele Identifier: PA167695

Gene: BRCA1 HGNC NCBI

Linked Data - Variant Effect Evidence

MaveDb:

Score -0.317430202

Score -0.0221700567

Score -0.222956413

Linked Data - NCBI & NCI

ClinVar Allele:

46196

ClinVar RCV:

RCV000031221

RCV000048803

RCV000131166

RCV000148393

RCV000212194

RCV000589633

RCV001353479

RCV002250480

ClinVar Variation:

37640

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009225.1:p.Ala1708Val	CA003253 NM_007294.4:c.5123C>T