Canonical Allele Identifier: PA2499291428
Gene: CEP290 HGNC NCBI

Linked Data

ClinVar Variation Id: 1195975
ClinVar RCV Id: RCV001559313 RCV001559314 RCV001559315 RCV001559316
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079390.3:p.Glu2212Lys
CA385977938
NM_025114.4:c.6634G>A