Canonical Allele Identifier: PA150906
Gene: CEP290 HGNC NCBI

Linked Data

ClinVar Variation Id: 126255
ClinVar RCV Id: RCV000114194 RCV000636999 RCV001831902 RCV004542807
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079390.3:p.Leu1148Val
CA150905
NM_025114.4:c.3442C>G