Allele Registry

Canonical Allele Identifier: PA2828551516

Gene: GNE HGNC NCBI

ClinVar RCV:

RCV000599140

RCV001829691

ClinVar Variation:

503710

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361727.1:p.Val513del	CA5056433 NM_001374798.1:c.1536_1538del