Allele Registry

Canonical Allele Identifier: PA2828550798

Gene: GNE HGNC NCBI

ClinVar RCV:

RCV000593521

RCV001854024

RCV003459467

ClinVar Variation:

498627

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361726.1:p.Ser617Phe	CA373424635 NM_001374797.1:c.1850C>T