Canonical Allele Identifier: PA207197
Gene: CEP290 HGNC NCBI

Linked Data

ClinVar Variation Id: 210696
ClinVar RCV Id: RCV000193603 RCV001366563 RCV001073469 RCV001828016 RCV002517924 RCV004530108
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079390.3:p.Leu1581Phe
CA207196
NM_025114.4:c.4741C>T