Canonical Allele Identifier: PA2829720884
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 54743
ClinVar RCV Id: RCV000048035 RCV000111978 RCV000130154 RCV000159911 RCV000656789
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_009231.2:p.Glu1000_Glu1001del
CA001949
NM_007300.4:c.2998_3003del