ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827022014
Gene: DGUOK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1938143
ClinVar RCV Id:
RCV002646198
RCV004066688
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305788.1:p.Leu8Val
CA50398070
NM_001318859.2:c.22C>G