{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA283395",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 14593,
          "referenceAllele": "A",
          "start": 14592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NP_596869.4:p.Ala14593Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA283393",
          "hgvs": "NM_133378.4:c.43778C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS181026"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=56218[alleleid]",
        "alleleId": 56218,
        "preferredName": "NM_001267550.2(TTN):c.51482C>T (p.Ala17161Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/47053",
        "RCV": [
          "RCV000040323",
          "RCV000244693",
          "RCV000301448",
          "RCV000356210",
          "RCV000370266",
          "RCV000396718",
          "RCV000406062",
          "RCV000468433",
          "RCV001572718"
        ],
        "variationId": 47053
      }
    ]
  },
  "type": "amino-acid"
}