{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645437852",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 1176,
          "referenceAllele": "S",
          "start": 1175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NP_002684.1:p.Ser1176Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7724103",
          "hgvs": "NM_002693.3:c.3527C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168528"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=422056[alleleid]",
        "alleleId": 422056,
        "preferredName": "NM_002693.3(POLG):c.3527C>T (p.Ser1176Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/430382",
        "RCV": [
          "RCV000493365",
          "RCV001375606",
          "RCV000686358",
          "RCV002524050"
        ],
        "variationId": 430382
      }
    ]
  },
  "type": "amino-acid"
}