Allele Registry

Canonical Allele Identifier: PA290587

Gene: DGUOK HGNC NCBI

ClinVar Allele:

140785

ClinVar RCV:

RCV000124677

RCV000239473

RCV000677030

RCV001139590

RCV002498597

ClinVar Variation:

137082

HGVS (amino-acid)	Matching Registered Transcripts
NP_550438.1:p.Gln170Arg	CA290586 NM_080916.3:c.509A>G