Allele Registry

Canonical Allele Identifier: PA253711

Gene: GNE HGNC NCBI

ClinVar RCV:

RCV000006403

RCV000724337

ClinVar Variation:

6032

HGVS (amino-acid)	Matching Registered Transcripts
NP_001121699.1:p.Ala491Val	CA253707 NM_001128227.3:c.1472C>T