Canonical Allele Identifier: PA658814498
Gene: CEP290 HGNC NCBI

Linked Data

ClinVar Variation Id: 515387
ClinVar RCV Id: RCV000610787 RCV002528645
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079390.3:p.Gln2335Arg
CA385975540
NM_025114.4:c.7004A>G