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) Matching Registered Transcripts
ENSP00000446905.1:p.Leu263Phe
CA386001207
ENST00000547691.6:c.789G>T
CA386001209
ENST00000547691.6:c.789G>C