ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826720026
Gene: DKC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
11584
ClinVar RCV Id:
RCV000012340
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001275676.1:p.Pro40Arg
CA341112
NM_001288747.2:c.119C>G