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.Gln1628His
CA385992930
ENST00000676074.1:c.4884G>T
CA385992931
ENST00000676074.1:c.4884G>C