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_016875471.1:p.Glu2181Asp	CA385987362 XM_017019982.1:c.6543A>T CA385987363 XM_017019982.1:c.6543A>C