Allele Registry

This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.

Canonical Allele Identifier: Get Identifier

Gene: GLUD1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305835.1:p.Arg228Ser	CA377466839 NM_001318906.2:c.684A>T CA377466840 NM_001318906.2:c.684A>C