Canonical Allele Identifier: PA2829697948
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 142002
ClinVar RCV Id: RCV000130773 RCV000210112 RCV000637444
ClinVar Variation Id: 865671
ClinVar RCV Id: RCV001073135
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_009228.2:p.Val1744Leu
CA003539
NM_007297.4:c.5230G>T
CA10590728
NM_007297.4:c.5230G>C