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: CEP290 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
XP_011537067.1:p.Glu2163Asp	CA385987728 XM_011538765.3:c.6489A>T CA385987730 XM_011538765.3:c.6489A>C