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
ENSP00000502079.1:p.His1206Gln	CA386001151 ENST00000676074.1:c.3618T>G CA386001153 ENST00000676074.1:c.3618T>A