Canonical Allele Identifier: PA205611
Gene: CEP290 HGNC NCBI

Linked Data

ClinVar Variation Id: 195989
ClinVar RCV Id: RCV000176690 RCV000192651 RCV000660467 RCV001113515 RCV001113514 RCV001082205 RCV001111528 RCV001111529 RCV001275025 RCV004528939
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079390.3:p.Glu994Lys
CA205610
NM_025114.4:c.2980G>A