ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580217983
Gene: DKC1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001354.1:p.Glu82Gln
CA337308315
NM_001363.5:c.244G>C