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
XP_011537060.1:p.His1493Gln
CA386001151
XM_011538758.3:c.4479T>G
CA386001153
XM_011538758.3:c.4479T>A