ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499253831
Gene: DKC1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001354.1:p.Ile163Val
CA414890035
NM_001363.5:c.487A>G