{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645437463",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 627,
          "referenceAllele": "R",
          "start": 626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NP_002684.1:p.Arg627Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7724669",
          "hgvs": "NM_002693.3:c.1880G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168528"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=429734[alleleid]",
        "alleleId": 429734,
        "preferredName": "NM_002693.3(POLG):c.1880G>A (p.Arg627Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/436359",
        "RCV": [
          "RCV000503435",
          "RCV000660508",
          "RCV003985793"
        ],
        "variationId": 436359
      }
    ]
  },
  "type": "amino-acid"
}