Canonical Allele Identifier: PA2573286579
Gene: CEP290 HGNC NCBI

Linked Data

ClinVar Variation Id: 1513833
ClinVar RCV Id: RCV002046010
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079390.3:p.Asp1650Tyr
CA241156642
NM_025114.4:c.4948G>T