Allele Registry

Canonical Allele Identifier: PA253706

Gene: GNE HGNC NCBI

ClinVar RCV:

RCV000006402

RCV000594042

RCV001383000

ClinVar Variation:

6031

HGVS (amino-acid)	Matching Registered Transcripts
NP_001121699.1:p.Asp256Asn	CA253703 NM_001128227.3:c.766G>A