{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA150916",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 1746,
          "referenceAllele": "R",
          "start": 1745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "NP_079390.3:p.Arg1746Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA150915",
          "hgvs": "NM_025114.4:c.5237G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178733"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=131794[alleleid]",
        "alleleId": 131794,
        "preferredName": "NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/126262",
        "RCV": [
          "RCV000114201",
          "RCV000292636",
          "RCV000399104",
          "RCV000336982",
          "RCV000352237",
          "RCV000436165",
          "RCV000407985",
          "RCV001084256",
          "RCV002294031",
          "RCV001826782",
          "RCV003888506"
        ],
        "variationId": 126262
      }
    ]
  },
  "type": "amino-acid"
}