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_016875472.1:p.Lys1639Asn	CA385992814 XM_017019983.2:c.4917A>T CA385992815 XM_017019983.2:c.4917A>C