ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA239291
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
193694
ClinVar RCV Id:
RCV000173832
RCV000556672
RCV001017761
RCV001328426
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Cys994Arg
CA001938
NM_007294.4:c.2980T>C