{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830234823",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 13940,
          "referenceAllele": "E",
          "start": 13939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NP_597681.4:p.Glu13940Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA181741",
          "hgvs": "NM_133437.4:c.41818G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS181031"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=172829[alleleid]",
        "alleleId": 172829,
        "preferredName": "NM_001267550.2(TTN):c.68437G>A (p.Glu22813Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/178196",
        "RCV": [
          "RCV000154926",
          "RCV000172272",
          "RCV000248442",
          "RCV000234385",
          "RCV000262197",
          "RCV000370118",
          "RCV000261085",
          "RCV000316255",
          "RCV000375502"
        ],
        "variationId": 178196
      }
    ]
  },
  "type": "amino-acid"
}