Allele Registry

Canonical Allele Identifier: PA253701

Gene: GNE HGNC NCBI

ClinVar RCV:

RCV000202425

RCV000725734

RCV001051696

ClinVar Variation:

6030

HGVS (amino-acid)	Matching Registered Transcripts
NP_001177312.1:p.Arg246Gln	CA253699 NM_001190383.3:c.737G>A