Allele Registry

Canonical Allele Identifier: PA2828550069

Gene: GNE HGNC NCBI

ClinVar RCV:

RCV000006392

RCV001267416

ClinVar Variation:

6021

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361726.1:p.Arg215Trp	CA340501 NM_001374797.1:c.643C>T