{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA316807",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 226,
          "referenceAllele": "Q",
          "start": 225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NP_002684.1:p.Gln226His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA316806",
          "hgvs": "NM_002693.3:c.678G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA393767261",
          "hgvs": "NM_002693.3:c.678G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168528"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=203036[alleleid]",
        "alleleId": 203036,
        "preferredName": "NM_002693.3(POLG):c.678G>C (p.Gln226His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/206581",
        "RCV": [
          "RCV000633538",
          "RCV000678826",
          "RCV000710188",
          "RCV001121513",
          "RCV001263148",
          "RCV001808471",
          "RCV002362986",
          "RCV003317141"
        ],
        "variationId": 206581
      }
    ]
  },
  "type": "amino-acid"
}