{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3057594557",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 121,
          "referenceAllele": "H",
          "start": 120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011831",
      "geneNCBI_id": 7084,
      "geneSymbol": "TK2",
      "hgvs": [
        "NP_004605.4:p.His121Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA396190545",
          "hgvs": "NM_004614.5:c.361C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170309"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3894837[alleleid]",
        "alleleId": 3894837,
        "preferredName": "NM_004614.5(TK2):c.361C>G (p.His121Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3778845",
        "RCV": [
          "RCV005358314"
        ],
        "variationId": 3778845
      }
    ]
  },
  "type": "amino-acid"
}