{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA108855",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 114,
          "referenceAllele": "R",
          "start": 113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010604",
      "geneNCBI_id": 9997,
      "geneSymbol": "SCO2",
      "hgvs": [
        "NP_001162580.1:p.Arg114His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA143840",
          "hgvs": "NM_001169109.2:c.341G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS155610"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=65567[alleleid]",
        "alleleId": 65567,
        "preferredName": "NM_005138.3(SCO2):c.341G>A (p.Arg114His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/50905",
        "RCV": [
          "RCV000043620",
          "RCV000872109",
          "RCV001149870",
          "RCV001149871",
          "RCV002513637"
        ],
        "variationId": 50905
      }
    ]
  },
  "type": "amino-acid"
}