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_011537068.1:p.[Lys1419Arg;Val1421_Glu1426delinsTyrHisLysIleTrp;Gln1428_Leu1434delinsAsp;Val1436_Lys1437del;Phe1439_Ile1442del;Leu1444_Gln1445delinsSer;Gln1447_Glu1448delinsAsn]
CA2620107599
XM_011538766.3:c.4256del