ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA343230
Gene: DKC1
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001354.1:p.Lys43Glu
NM_001363.5:c.127A>G