Canonical Allele Identifier: PA354763
Gene: CEP290 HGNC NCBI

Linked Data

ClinVar Variation Id: 218802
ClinVar RCV Id: RCV000285366 RCV000300690 RCV000203104 RCV000379773 RCV000815427 RCV001273066 RCV001582702 RCV002515507 RCV000335594 RCV000401171 RCV004530214
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079390.3:p.His1585Arg
CA249309
NM_025114.4:c.4754A>G