Allele Registry

Canonical Allele Identifier: PA268440

Gene: BRCA1 HGNC NCBI

Linked Data - Variant Effect Evidence

MaveDb:

Score -3.3988584938

Score -1.489915335

Score -1.9948604514

Score -1.5690825632

Score -1.4816136564

Score -2.1511192162

Linked Data - NCBI & NCI

ClinVar Allele:

70295

70296

70297

ClinVar RCV:

RCV000049050

RCV000074357

RCV000112704

RCV000163976

RCV000265181

RCV000577814

RCV000661251

RCV003529974

ClinVar Variation:

55628

55629

55630

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009225.1:p.Tyr1853Ter	CA003713 NM_007294.4:c.5558dup CA3060571189 NM_007294.4:c.5558_5561del