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
ENSP00000380938.5:p.Leu177_Lys590del
CA385986347
ENST00000397838.8:c.530T>G
CA385986349
ENST00000397838.8:c.530T>A