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_011537064.1:p.Thr1647Ser	CA385993010 XM_011538762.3:c.4940C>G CA385993012 XM_011538762.3:c.4939A>T