{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139717961",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 290,
          "referenceAllele": "R",
          "start": 289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NP_002684.1:p.Arg290Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7725010",
          "hgvs": "NM_002693.3:c.868C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168528"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=860199[alleleid]",
        "alleleId": 860199,
        "preferredName": "NM_002693.3(POLG):c.868C>T (p.Arg290Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/872786",
        "RCV": [
          "RCV001093440",
          "RCV001847155",
          "RCV002555968",
          "RCV002554873",
          "RCV003155359"
        ],
        "variationId": 872786
      }
    ]
  },
  "type": "amino-acid"
}