{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827179467",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 120,
          "referenceAllele": "I",
          "start": 119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021144",
      "geneNCBI_id": 29940,
      "geneSymbol": "DSE",
      "hgvs": [
        "NP_001309867.1:p.Ile120Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3969503",
          "hgvs": "NM_001322938.2:c.359T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS652865"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=368821[alleleid]",
        "alleleId": 368821,
        "preferredName": "NM_013352.4(DSE):c.359T>C (p.Ile120Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/391864",
        "RCV": [
          "RCV001721458",
          "RCV001331798"
        ],
        "variationId": 391864
      }
    ]
  },
  "type": "amino-acid"
}