ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825793822
Gene: DKC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
38931
ClinVar RCV Id:
RCV000032182
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001135935.1:p.Met350Thr
CA343198
NM_001142463.2:c.1049T>C