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.Val2179Leu	CA385987407 XM_017019981.2:c.6535G>T CA385987409 XM_017019981.2:c.6535G>C