{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA139085",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 6992,
          "referenceAllele": "E",
          "start": 6991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NP_596869.4:p.Glu6992Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA139083",
          "hgvs": "NM_133378.4:c.20974G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS181026"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=55905[alleleid]",
        "alleleId": 55905,
        "preferredName": "NM_001267550.2(TTN):c.24706G>A (p.Glu8236Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/46740",
        "RCV": [
          "RCV000040010",
          "RCV000476628",
          "RCV000713996"
        ],
        "variationId": 46740
      }
    ]
  },
  "type": "amino-acid"
}