ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826720344
Gene: DKC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
38941
ClinVar RCV Id:
RCV000032192
RCV000255428
RCV001048156
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001275676.1:p.Thr408Ile
CA343223
NM_001288747.2:c.1223C>T