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
ENSP00000447527.3:p.Pro154_Ter155insCysIlePheThrValGlnValThrTrpLeuPheIleIleIleGlyAsnAsnIleAsnPheTyrIleValCysTyrIle
CA385986982
ENST00000552770.3:c.465A>T
CA385986985
ENST00000552770.3:c.465A>C