Canonical Allele Identifier: PA2580504751
Gene: DGUOK HGNC NCBI
ClinVar RCV:
RCV002662808
ClinVar Variation:
1938774
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_550440.1:p.Leu6Phe
CA347296574
NM_080918.3:c.16C>T