Canonical Allele Identifier: PA094509
Gene: DKC1 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001354.1:p.Pro40Arg
CA341112
NM_001363.5:c.119C>G