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_001305833.1:p.Thr222Ser	CA377466878 NM_001318904.2:c.665C>G CA377466880 NM_001318904.2:c.664A>T