ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825793557
Gene: DKC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1444615
ClinVar RCV Id:
RCV001982509
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001135935.1:p.Cys74Arg
CA414889411
NM_001142463.2:c.220T>C