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.Leu623Phe	CA413430579 ENST00000681408.1:c.1869G>T CA413430580 ENST00000681408.1:c.1869G>C