ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827022430
Gene: DGUOK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
214280
ClinVar RCV Id:
RCV000195536
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305791.1:p.Thr169Asn
CA319886
NM_001318862.2:c.506C>A