ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826720320
Gene: DKC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
379736
ClinVar RCV Id:
RCV000442656
RCV000779660
RCV001257984
RCV003530047
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001275676.1:p.Arg378Gln
CA16608850
NM_001288747.2:c.1133G>A