Canonical Allele Identifier: PA645414231
Gene: CEP290 HGNC NCBI

Linked Data

ClinVar Variation Id: 281250
ClinVar RCV Id: RCV000280320 RCV000320212 RCV000354111 RCV000374721 RCV000342452 RCV000396707 RCV000637003 RCV000714822 RCV001589313 RCV001265795 RCV001275039 RCV001580478 RCV002294212 RCV003319345
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079390.3:p.Ile364Met
CA6712623
NM_025114.4:c.1092T>G