Canonical Allele Identifier: PA645414308
Gene: CEP290 HGNC NCBI

Linked Data

ClinVar Variation Id: 310614
ClinVar RCV Id: RCV000307295 RCV000310425 RCV000371328 RCV000365084 RCV000400672 RCV000861492 RCV001252733 RCV001562789 RCV002467728 RCV003888723
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079390.3:p.Glu725Ala
CA6712389
NM_025114.4:c.2174A>C