Canonical Allele Identifier: PA2573286936
Gene: CEP290 HGNC NCBI

Linked Data

ClinVar Variation Id: 1489455
ClinVar RCV Id: RCV001978312 RCV002486556 RCV003232508 RCV004529078
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079390.3:p.His2191Asp
CA6711472
NM_025114.4:c.6571C>G