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
NP_002538.1:p.His705Gln	CA413430210 NM_002547.3:c.2115C>G CA413430211 NM_002547.3:c.2115C>A