{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA250022",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 197,
          "referenceAllele": "R",
          "start": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "NP_056512.5:p.Arg197His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA250021",
          "hgvs": "NM_015697.9:c.590G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS174738"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=16477[alleleid]",
        "alleleId": 16477,
        "preferredName": "NM_001358921.2(COQ2):c.440G>A (p.Arg147His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1438",
        "RCV": [
          "RCV000001503",
          "RCV000416395",
          "RCV001550184",
          "RCV002504734"
        ],
        "variationId": 1438
      }
    ]
  },
  "type": "amino-acid"
}