ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA094394
Gene: DKC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
11593
ClinVar RCV Id:
RCV000012351
RCV000055631
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001354.1:p.Ile38Thr
CA264769
NM_001363.5:c.113T>C