Canonical Allele Identifier: PA1139757626
Gene: CEP290 HGNC NCBI

Linked Data

ClinVar Variation Id: 940326
ClinVar RCV Id: RCV001209891 RCV001836151
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079390.3:p.His1577Arg
CA6711871
NM_025114.4:c.4730A>G