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

Amino-acid Alleles

HGVS (amino-acid) Transcript change
ENSP00000502194.1:p.Lys1903Met
ENST00000674971.1:c.5708A>T