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
ENSP00000502194.1:p.Met100Ile	CA385987836 ENST00000674971.1:c.300G>T CA385987844 ENST00000674971.1:c.300G>C CA385987845 ENST00000674971.1:c.300G>A