Canonical Allele Identifier: PA645414291
Gene: CEP290 HGNC NCBI

Linked Data

ClinVar Variation Id: 261828

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079390.3:p.Arg557Cys
CA6712494
NM_025114.4:c.1669C>T