ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829701447
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
462666
ClinVar RCV Id:
RCV000552413
RCV000663140
RCV000776460
RCV003238765
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009229.2:p.Glu650Gln
CA054279
NM_007298.3:c.1948G>C