Canonical Allele Identifier: PA658662064
Gene: CEP290 HGNC NCBI

Linked Data

ClinVar Variation Id: 461788
ClinVar RCV Id: RCV000529924 RCV000765112 RCV001272013 RCV002469187
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079390.3:p.Glu2131Gly
CA6711500
NM_025114.4:c.6392A>G