{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916052099",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 608,
          "referenceAllele": "E",
          "start": 607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023508",
      "geneNCBI_id": 219736,
      "geneSymbol": "STOX1",
      "hgvs": [
        "NP_689922.3:p.Glu608Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA115165",
          "hgvs": "NM_152709.5:c.1824A>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA376881912",
          "hgvs": "NM_152709.5:c.1824A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS182604"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=16759[alleleid]",
        "alleleId": 16759,
        "preferredName": "NM_152709.5(STOX1):c.1824A>C (p.Glu608Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1720",
        "RCV": [
          "RCV000001790",
          "RCV001777128"
        ],
        "variationId": 1720
      }
    ]
  },
  "type": "amino-acid"
}