Allele Registry

Canonical Allele Identifier: PA253708

Gene: GNE HGNC NCBI

ClinVar RCV:

RCV000006403

RCV000724337

ClinVar Variation:

6032

HGVS (amino-acid)	Matching Registered Transcripts
NP_001177313.1:p.Ala350Val	CA253707 NM_001190384.3:c.1049C>T