Canonical Allele Identifier: PA192073
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 54505
ClinVar RCV Id: RCV000047765 RCV000111798 RCV000220800 RCV001811336
ClinVar Variation Id: 185481
ClinVar RCV Id: RCV000164916 RCV000539119 RCV000662700 RCV001328454
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_009225.1:p.Val740Leu
CA001488
NM_007294.4:c.2218G>C
CA001489
NM_007294.4:c.2218G>T