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
ENSP00000447527.2:p.Val101Leu	CA385987065 ENST00000552770.2:c.301G>T CA385987066 ENST00000552770.2:c.301G>C