Canonical Allele Identifier: PA2573096092
Gene: CEP290 HGNC NCBI

Linked Data

ClinVar Variation Id: 1331227
ClinVar RCV Id: RCV001806572 RCV002482332
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079390.3:p.Glu1579Val
CA6711870
NM_025114.4:c.4736A>T