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
ENSP00000502161.1:p.Asn2378Lys	CA385979424 ENST00000675476.1:c.7134T>G CA385979426 ENST00000675476.1:c.7134T>A