{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825799133",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 209,
          "referenceAllele": "D",
          "start": 208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019041",
      "geneNCBI_id": 79934,
      "geneSymbol": "COQ8B",
      "hgvs": [
        "NP_001136027.1:p.Asp209His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA9450294",
          "hgvs": "NM_001142555.3:c.625G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS153438"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=962801[alleleid]",
        "alleleId": 962801,
        "preferredName": "NM_024876.4(COQ8B):c.748G>C (p.Asp250His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/974478",
        "RCV": [
          "RCV001281243",
          "RCV001328147"
        ],
        "variationId": 974478
      }
    ]
  },
  "type": "amino-acid"
}