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
ENSP00000502559.1:p.His1838Gln	CA385993757 ENST00000675833.1:c.5514T>G CA385993761 ENST00000675833.1:c.5514T>A