ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915996717
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
496349
ClinVar RCV Id:
RCV000589930
RCV000776381
RCV001867912
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Glu530Gly
CA10598869
NM_007300.4:c.1589A>G