Canonical Allele Identifier: PA1139757221
Gene: CEP290 HGNC NCBI

Linked Data

ClinVar Variation Id: 834384
ClinVar RCV Id: RCV001035058 RCV001836069 RCV002505556 RCV003227897 RCV004030946
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079390.3:p.Asn1258Ser
CA241164518
NM_025114.4:c.3773A>G