Canonical Allele Identifier: PA233678
Gene: CEP290 HGNC NCBI

Linked Data

ClinVar Variation Id: 166836
ClinVar RCV Id: RCV000152978 RCV000723757 RCV001058824 RCV001275036 RCV004532719
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079390.3:p.Ile556Asn
CA233677
NM_025114.4:c.1667T>A