{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA199147",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 52,
          "referenceAllele": "L",
          "start": 51
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019693",
      "geneNCBI_id": 51117,
      "geneSymbol": "COQ4",
      "hgvs": [
        "NP_057119.2:p.Leu52Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA199146",
          "hgvs": "NM_016035.4:c.155T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS174915"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=187093[alleleid]",
        "alleleId": 187093,
        "preferredName": "NM_016035.5(COQ4):c.155T>C (p.Leu52Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/189202",
        "RCV": [
          "RCV000169637"
        ],
        "variationId": 189202
      }
    ]
  },
  "type": "amino-acid"
}