Canonical Allele Identifier: PA2573286714
Gene: CEP290 HGNC NCBI

Linked Data

ClinVar Variation Id: 1352760
ClinVar RCV Id: RCV002039933
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079390.3:p.Lys1903Glu
CA385987173
NM_025114.4:c.5707A>G