Allele Registry

Canonical Allele Identifier: PA2828550749

Gene: GNE HGNC NCBI

ClinVar RCV:

RCV000595393

RCV000702554

RCV001834889

RCV003352934

ClinVar Variation:

499322

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361726.1:p.Ala585Val	CA5056396 NM_001374797.1:c.1754C>T