{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA112491",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 451,
          "referenceAllele": "G",
          "start": 450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009180",
      "geneNCBI_id": 11232,
      "geneSymbol": "POLG2",
      "hgvs": [
        "NP_009146.2:p.Gly451Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA117371",
          "hgvs": "NM_007215.4:c.1352G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172677"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20315[alleleid]",
        "alleleId": 20315,
        "preferredName": "NM_007215.4(POLG2):c.1352G>A (p.Gly451Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5276",
        "RCV": [
          "RCV000005594",
          "RCV003330384"
        ],
        "variationId": 5276
      }
    ]
  },
  "type": "amino-acid"
}