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_011537062.1:p.Val2182Leu	CA385987356 XM_011538760.2:c.6544G>T CA385987359 XM_011538760.2:c.6544G>C