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
ENSP00000506619.1:p.His670Gln	CA413430210 ENST00000681408.1:c.2010C>G CA413430211 ENST00000681408.1:c.2010C>A