Canonical Allele Identifier: PA246818
Gene: CEP290 HGNC NCBI

Linked Data

ClinVar Variation Id: 198265
ClinVar RCV Id: RCV000179538 RCV000724859 RCV001082749 RCV001275047 RCV001526756 RCV004537490
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079390.3:p.Arg114His
CA246817
NM_025114.4:c.341G>A