Allele Registry

Canonical Allele Identifier: PA2828551548

Gene: GNE HGNC NCBI

ClinVar RCV:

RCV000296082

RCV000664508

RCV001247004

ClinVar Variation:

283229

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361727.1:p.Leu544Phe	CA5056424 NM_001374798.1:c.1630C>T