Canonical Allele Identifier: PA645414424
Gene: CEP290 HGNC NCBI

Linked Data

ClinVar Variation Id: 424602
ClinVar RCV Id: RCV000484031 RCV001265797 RCV001829393 RCV001851281 RCV002489183
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079390.3:p.Glu2357Gly
CA6711360
NM_025114.4:c.7070A>G