Allele Registry

Canonical Allele Identifier: PA253705

Gene: GNE HGNC NCBI

ClinVar RCV:

RCV000006402

RCV000594042

RCV001383000

ClinVar Variation:

6031

HGVS (amino-acid)	Matching Registered Transcripts
NP_001177312.1:p.Asp225Asn	CA253703 NM_001190383.3:c.673G>A