ClinGen Allele Registry
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Canonical Allele Identifier:
PA094529
Gene: DKC1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
26630
ClinVar RCV:
RCV000012349
RCV000254868
RCV000816060
ClinVar Variation:
11591
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001354.1:p.Thr49Met
CA156187
NM_001363.5:c.146C>T