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
ENSP00000502559.1:p.Glu2149Asp	CA385987376 ENST00000675833.1:c.6447G>T CA385987380 ENST00000675833.1:c.6447G>C