Canonical Allele Identifier: PA093025
Gene: CEP290 HGNC NCBI

Linked Data

ClinVar Variation Id: 1335
ClinVar RCV Id: RCV000001398 RCV000086283 RCV000505111 RCV001328051 RCV001851540
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079390.3:p.Trp7Cys
CA227962
NM_025114.4:c.21G>T
CA385990493
NM_025114.4:c.21G>C