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
ENSP00000502194.1:p.Gln1193His
CA386001368
ENST00000674971.1:c.3579G>T
CA386001376
ENST00000674971.1:c.3579G>C