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.Asn2125Lys	CA385987878 ENST00000675833.1:c.6375T>G CA385987881 ENST00000675833.1:c.6375T>A