Canonical Allele Identifier: PA645414360
Gene: CEP290 HGNC NCBI

Linked Data

ClinVar Variation Id: 310602
ClinVar RCV Id: RCV000268181 RCV000303676 RCV000316272 RCV000354663 RCV000360821 RCV000603267 RCV001273072 RCV001347081
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079390.3:p.Arg1384His
CA6712022
NM_025114.4:c.4151G>A