Allele Registry

Canonical Allele Identifier: PA2828549913

Gene: GNE HGNC NCBI

ClinVar RCV:

RCV000169582

RCV001390245

ClinVar Variation:

189156

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361726.1:p.Arg129Gln	CA274432 NM_001374797.1:c.386G>A