{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA322393",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 179,
          "referenceAllele": "R",
          "start": 178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010604",
      "geneNCBI_id": 9997,
      "geneSymbol": "SCO2",
      "hgvs": [
        "NP_005129.2:p.Arg179Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA322391",
          "hgvs": "NM_005138.3:c.535C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170795"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=211962[alleleid]",
        "alleleId": 211962,
        "preferredName": "NM_005138.3(SCO2):c.535C>T (p.Arg179Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/215130",
        "RCV": [
          "RCV000197926",
          "RCV001149869",
          "RCV001149868",
          "RCV002517259"
        ],
        "variationId": 215130
      }
    ]
  },
  "type": "amino-acid"
}