Allele Registry

Canonical Allele Identifier: PA658819702

Gene: BRCA1 HGNC NCBI

Linked Data - Variant Effect Evidence

MaveDb:

Score -1.0578945468

Score -3.6990570407

Score -1.7276242139

Score -2.4459880843

Score -3.9128918551

Score 4

Score -3.9318866722

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000637401

RCV001072375

ClinVar Variation:

531241

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009225.1:p.Met18Arg	CA10602052 NM_007294.4:c.53T>G