Allele Registry

Canonical Allele Identifier: PA2828551252

Gene: GNE HGNC NCBI

ClinVar RCV:

RCV000006392

RCV001267416

ClinVar Variation:

6021

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361727.1:p.Arg207Trp	CA340501 NM_001374798.1:c.619C>T