ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827022011
Gene: DGUOK
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV002662808
ClinVar Variation:
1938774
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305788.1:p.Leu6Phe
CA347296574
NM_001318859.2:c.16C>T