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
ENSP00000502079.1:p.His2131Gln
CA6711473
ENST00000676074.1:c.6393T>G
CA385978301
ENST00000676074.1:c.6393T>A