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: OPHN1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000347710.5:p.Val670Leu	CA413430429 ENST00000355520.6:c.2008G>T CA413430430 ENST00000355520.6:c.2008G>C