{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA233676",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 1417,
          "referenceAllele": "Q",
          "start": 1416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "NP_079390.3:p.Gln1417Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA233675",
          "hgvs": "NM_025114.4:c.4250A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178733"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=177012[alleleid]",
        "alleleId": 177012,
        "preferredName": "NM_025114.4(CEP290):c.4250A>G (p.Gln1417Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/166835",
        "RCV": [
          "RCV000152977",
          "RCV000348281",
          "RCV000390170",
          "RCV000281671",
          "RCV000373904",
          "RCV000313475",
          "RCV000763864",
          "RCV001245512",
          "RCV001279535",
          "RCV004528881",
          "RCV002516071"
        ],
        "variationId": 166835
      }
    ]
  },
  "type": "amino-acid"
}