{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA658654416",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 354,
          "referenceAllele": "R",
          "start": 353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002260",
      "geneNCBI_id": 1352,
      "geneSymbol": "COX10",
      "hgvs": [
        "NP_001294.2:p.Arg354Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8402517",
          "hgvs": "NM_001303.4:c.1061G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS166507"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=438041[alleleid]",
        "alleleId": 438041,
        "preferredName": "NM_001303.4(COX10):c.1061G>A (p.Arg354Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/444401",
        "RCV": [
          "RCV000513659",
          "RCV000764104",
          "RCV003105935",
          "RCV002524962"
        ],
        "variationId": 444401
      }
    ]
  },
  "type": "amino-acid"
}