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
ENSP00000446905.1:p.Gly950Ter
ENST00000547691.6:c.2848G>T