ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915996816
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54316
ClinVar RCV Id:
RCV000111659
RCV001526173
RCV002250526
RCV001349061
RCV001811334
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Ile548Val
CA001087
NM_007300.4:c.1642A>G