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
ENSP00000501582.1:p.Arg38Ser
CA385969367
ENST00000675089.1:c.114G>T
CA385969369
ENST00000675089.1:c.114G>C