Canonical Allele Identifier: PA233676
Gene: CEP290 HGNC NCBI

Linked Data

ClinVar Variation Id: 166835
ClinVar RCV Id: RCV000152977 RCV000348281 RCV000390170 RCV000281671 RCV000373904 RCV000313475 RCV000763864 RCV001245512 RCV001279535 RCV004528881 RCV002516071
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079390.3:p.Gln1417Arg
CA233675
NM_025114.4:c.4250A>G