Allele Registry

Canonical Allele Identifier: PA253684

Gene: GNE HGNC NCBI

ClinVar RCV:

RCV000006398

RCV001385135

ClinVar Variation:

6027

HGVS (amino-acid)	Matching Registered Transcripts
NP_001177313.1:p.Ala521Thr	CA253683 NM_001190384.3:c.1561G>A