Allele Registry

Canonical Allele Identifier: PA268334

Gene: BRCA1 HGNC NCBI

Linked Data - Variant Effect Evidence

MaveDb:

Score -2.2097667819

Score -1.1421620872

Score -1.422432164

Score -1.6598101425

Score -1.3901307195

Score -1.8710630833

Score -1.6612830265

Score -1.5119246502

Score -1.7697072764

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000112505

RCV000112508

RCV000112509

RCV001383430

RCV002267824

RCV002336193

ClinVar Variation:

55414

55417

55418

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009225.1:p.Ser1715Arg	CA003264 NM_007294.4:c.5143A>C CA003267 NM_007294.4:c.5145C>A CA003268 NM_007294.4:c.5145C>G