Allele Registry

Canonical Allele Identifier: PA916058181

Gene: DGUOK HGNC NCBI

ClinVar RCV:

RCV000239555

RCV001782737

ClinVar Variation:

253066

HGVS (amino-acid)	Matching Registered Transcripts
NP_550440.1:p.Glu44Lys	CA1718150 NM_080918.3:c.130G>A