Allele Registry

Canonical Allele Identifier: PA2828549995

Gene: GNE HGNC NCBI

ClinVar RCV:

RCV000668839

RCV003767968

ClinVar Variation:

553400

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361726.1:p.Arg177Cys	CA5056716 NM_001374797.1:c.529C>T