Canonical Allele Identifier: PA645414294
Gene: CEP290 HGNC NCBI

Linked Data

ClinVar Variation Id: 310616
ClinVar RCV Id: RCV000311480 RCV000315150 RCV000351341 RCV000357069 RCV000390499 RCV002461069 RCV000860718 RCV001833458 RCV002467729
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079390.3:p.Lys636Asn
CA6712437
NM_025114.4:c.1908A>T
CA385977062
NM_025114.4:c.1908A>C