{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830230746",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4047,
          "referenceAllele": "I",
          "start": 4046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NP_597681.4:p.Ile4047Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA141993",
          "hgvs": "NM_133437.4:c.12140T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS181031"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=56992[alleleid]",
        "alleleId": 56992,
        "preferredName": "NM_001267550.2(TTN):c.12653T>C (p.Ile4218Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/47828",
        "RCV": [
          "RCV000041097",
          "RCV000725423",
          "RCV000770111"
        ],
        "variationId": 47828
      }
    ]
  },
  "type": "amino-acid"
}