{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830191054",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 1595,
          "referenceAllele": "I",
          "start": 1594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NP_596869.4:p.Ile1595Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA60978210",
          "hgvs": "NM_133378.4:c.4784T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS181026"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=450239[alleleid]",
        "alleleId": 450239,
        "preferredName": "NM_001267550.2(TTN):c.4784T>G (p.Ile1595Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/467191",
        "RCV": [
          "RCV000527993",
          "RCV002497143"
        ],
        "variationId": 467191
      }
    ]
  },
  "type": "amino-acid"
}