Canonical Allele Identifier: PA1139756046
Gene: CEP290 HGNC NCBI

Linked Data

ClinVar Variation Id: 881099
ClinVar RCV Id: RCV001109862 RCV001109863 RCV001109864 RCV001109865 RCV001113893 RCV001244757 RCV001279936 RCV002497520 RCV003227912 RCV004538332
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079390.3:p.Thr224Ile
CA6712702
NM_025114.4:c.671C>T