{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA139812",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 13903,
          "referenceAllele": "W",
          "start": 13902
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NP_596869.4:p.Trp13903Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA139810",
          "hgvs": "NM_133378.4:c.41709G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA349604648",
          "hgvs": "NM_133378.4:c.41709G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS181026"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=56195[alleleid]",
        "alleleId": 56195,
        "preferredName": "NM_001267550.2(TTN):c.49413G>T (p.Trp16471Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/47030",
        "RCV": [
          "RCV000040300",
          "RCV000184581",
          "RCV000275689",
          "RCV000248683",
          "RCV000317820",
          "RCV000330719",
          "RCV000372520",
          "RCV000357355",
          "RCV000764335",
          "RCV000560033",
          "RCV001170837",
          "RCV004534902"
        ],
        "variationId": 47030
      }
    ]
  },
  "type": "amino-acid"
}