{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826059400",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 140,
          "referenceAllele": "E",
          "start": 139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010604",
      "geneNCBI_id": 9997,
      "geneSymbol": "SCO2",
      "hgvs": [
        "NP_001162581.1:p.Glu140Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA117677",
          "hgvs": "NM_001169110.1:c.418G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS155611"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20720[alleleid]",
        "alleleId": 20720,
        "preferredName": "NM_005138.3(SCO2):c.418G>A (p.Glu140Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5681",
        "RCV": [
          "RCV000006035",
          "RCV000043619",
          "RCV000198477",
          "RCV000626777",
          "RCV001610286"
        ],
        "variationId": 5681
      }
    ]
  },
  "type": "amino-acid"
}