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_016875470.1:p.Leu2175Phe	CA385987477 XM_017019981.2:c.6525A>T CA385987479 XM_017019981.2:c.6525A>C