ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825793454
Gene: DKC1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000032202
RCV001852640
ClinVar Variation:
38951
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001135935.1:p.Ala2Val
CA343245
NM_001142463.2:c.5C>T