{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA302787",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 13052,
          "referenceAllele": "R",
          "start": 13051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NP_001243779.1:p.Arg13052Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA302785",
          "hgvs": "NM_001256850.1:c.39154C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS159944"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=192072[alleleid]",
        "alleleId": 192072,
        "preferredName": "NM_001267550.2(TTN):c.44077C>T (p.Arg14693Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/194910",
        "RCV": [
          "RCV000219227",
          "RCV000618077",
          "RCV000724241",
          "RCV001079420",
          "RCV000769015",
          "RCV004537383"
        ],
        "variationId": 194910
      }
    ]
  },
  "type": "amino-acid"
}