Allele Registry

Canonical Allele Identifier: PA239807

Gene: GNE HGNC NCBI

ClinVar RCV:

RCV000277092

RCV000315879

RCV000372863

RCV000430334

RCV000545813

RCV003416070

ClinVar Variation:

194025

HGVS (amino-acid)	Matching Registered Transcripts
NP_005467.1:p.Val696Leu	CA239806 NM_005476.7:c.2086G>T CA373424372 NM_005476.7:c.2086G>C