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
XP_016875469.1:p.Ser1500Arg
CA386001047
XM_017019980.2:c.4500T>G
CA386001049
XM_017019980.2:c.4500T>A
CA386001058
XM_017019980.2:c.4498A>C