ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826720319
Gene: DKC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1497905
ClinVar RCV Id:
RCV002033798
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001275676.1:p.Glu372Gln
CA414895910
NM_001288747.2:c.1114G>C