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
ENSP00000448012.1:p.Glu116Asp
CA385987601
ENST00000552810.6:c.348A>T
CA385987603
ENST00000552810.6:c.348A>C