ClinGen Allele Registry
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Canonical Allele Identifier:
PA658667928
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000552413
RCV000663140
RCV000776460
RCV003238765
ClinVar Variation:
462666
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Glu1754Gln
CA054279
NM_007294.4:c.5260G>C