{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA123143",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 251,
          "referenceAllele": "T",
          "start": 250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NP_002684.1:p.Thr251Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA123142",
          "hgvs": "NM_002693.3:c.752C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168528"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28542[alleleid]",
        "alleleId": 28542,
        "preferredName": "NM_002693.3(POLG):c.752C>T (p.Thr251Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13503",
        "RCV": [
          "RCV000014448",
          "RCV000014447",
          "RCV000020484",
          "RCV000184009",
          "RCV000188641",
          "RCV000194055",
          "RCV000262479",
          "RCV000415105",
          "RCV001004407",
          "RCV001642225",
          "RCV001678594",
          "RCV001813742",
          "RCV001813985",
          "RCV001847602",
          "RCV002272019",
          "RCV002287334",
          "RCV002313708",
          "RCV002319423",
          "RCV003458331"
        ],
        "variationId": 13503
      }
    ]
  },
  "type": "amino-acid"
}