ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825793870
Gene: DKC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
38938
ClinVar RCV Id:
RCV000032189
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001135935.1:p.Leu398Pro
CA343216
NM_001142463.2:c.1193T>C