Canonical Allele Identifier: PA179857
Gene: CEP290 HGNC NCBI

Linked Data

ClinVar Variation Id: 166829
ClinVar RCV Id: RCV000152970 RCV000224947 RCV001082043 RCV001114081 RCV001114080 RCV001272012 RCV001114077 RCV001114078 RCV001114079 RCV001252445
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079390.3:p.Ile2134Thr
CA179856
NM_025114.4:c.6401T>C