{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA117918",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 199,
          "referenceAllele": "R",
          "start": 198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007710",
      "geneNCBI_id": 4722,
      "geneSymbol": "NDUFS3",
      "hgvs": [
        "NP_004542.1:p.Arg199Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA117917",
          "hgvs": "NM_004551.3:c.595C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170249"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=21059[alleleid]",
        "alleleId": 21059,
        "preferredName": "NM_004551.3(NDUFS3):c.595C>T (p.Arg199Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/6020",
        "RCV": [
          "RCV000006391",
          "RCV003555941"
        ],
        "variationId": 6020
      }
    ]
  },
  "type": "amino-acid"
}