{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA658813018",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 7040,
          "referenceAllele": "R",
          "start": 7039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NP_001254479.2:p.Arg7040Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2001072",
          "hgvs": "NM_001267550.2:c.21119G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS160574"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=517368[alleleid]",
        "alleleId": 517368,
        "preferredName": "NM_001267550.2(TTN):c.21119G>A (p.Arg7040Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/535615",
        "RCV": [
          "RCV000643697",
          "RCV003140018"
        ],
        "variationId": 535615
      }
    ]
  },
  "type": "amino-acid"
}