Canonical Allele Identifier: PA645452057
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 267219
ClinVar RCV Id: RCV000257949 RCV001077614 RCV001182323 RCV001383769
ClinVar Variation Id: 267221
ClinVar RCV Id: RCV000257990 RCV000494689 RCV001353435 RCV002338815
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_009225.1:p.Gly1706Arg
CA501117
NM_007294.4:c.5116G>C
CA10590060
NM_007294.4:c.5116G>A