Allele Registry

Canonical Allele Identifier: PA2827022210

Gene: DGUOK HGNC NCBI

ClinVar RCV:

RCV000008636

RCV001568974

RCV002512917

RCV004540991

ClinVar Variation:

8158

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305789.1:p.Glu130Lys	CA254329 NM_001318860.2:c.388G>A