Canonical Allele Identifier: PA645414349
Gene: CEP290 HGNC NCBI

Linked Data

ClinVar Variation Id: 310606
ClinVar RCV Id: RCV000276434 RCV000289191 RCV000327895 RCV000333827 RCV000381363 RCV000557002 RCV001273076 RCV001074452 RCV001590930 RCV001555535 RCV002520840 RCV004544543
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079390.3:p.Arg1264Cys
CA6712084
NM_025114.4:c.3790C>T