ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826720339
Gene: DKC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
11586
ClinVar RCV Id:
RCV000012342
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001275676.1:p.Gly402Glu
CA341114
NM_001288747.2:c.1205G>A