ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA343261
Gene: DKC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
38956
ClinVar RCV Id:
RCV000032207
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001354.1:p.Leu317Val
CA343259
NM_001363.5:c.949C>G