ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829689550
Gene: BRCA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
68983
ClinVar RCV:
RCV000111659
RCV001349061
RCV001526173
RCV001811334
RCV002250526
ClinVar Variation:
54316
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Ile501Val
CA001087
NM_007297.4:c.1501A>G