{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645459121",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 545,
          "referenceAllele": "R",
          "start": 544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017142",
      "geneNCBI_id": 10133,
      "geneSymbol": "OPTN",
      "hgvs": [
        "NP_068815.2:p.Arg545Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA118630",
          "hgvs": "NM_021980.4:c.1634G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177657"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22137[alleleid]",
        "alleleId": 22137,
        "preferredName": "NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7098",
        "RCV": [
          "RCV000007515",
          "RCV000301689",
          "RCV000356568",
          "RCV000559186",
          "RCV001289042",
          "RCV001610287",
          "RCV004532306"
        ],
        "variationId": 7098
      }
    ]
  },
  "type": "amino-acid"
}