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
ENSP00000500665.2:p.Glu116Asp
CA385987601
ENST00000673058.2:c.348A>T
CA385987603
ENST00000673058.2:c.348A>C