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
ENSP00000500665.2:p.Val1892Leu	CA385987407 ENST00000673058.2:c.5674G>T CA385987409 ENST00000673058.2:c.5674G>C