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_016875471.1:p.Asn1494Lys	CA386001136 XM_017019982.1:c.4482T>G CA386001137 XM_017019982.1:c.4482T>A