Allele Registry

Canonical Allele Identifier: PA2828550132

Gene: GNE HGNC NCBI

ClinVar RCV:

RCV000597115

RCV003465336

ClinVar Variation:

498277

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361726.1:p.Arg270Cys	CA373430492 NM_001374797.1:c.808C>T