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: OPTN HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
XP_005252395.2:p.Thr330Ser	CA376029576 XM_005252338.2:c.988A>T CA376029578 XM_005252338.2:c.989C>G