{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645428069",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 237,
          "referenceAllele": "H",
          "start": 236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003018",
      "geneNCBI_id": 1811,
      "geneSymbol": "SLC26A3",
      "hgvs": [
        "NP_000102.1:p.His237Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4434057",
          "hgvs": "NM_000111.3:c.711C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA368853131",
          "hgvs": "NM_000111.3:c.711C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146662"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=301452[alleleid]",
        "alleleId": 301452,
        "preferredName": "NM_000111.3(SLC26A3):c.711C>G (p.His237Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/358553",
        "RCV": [
          "RCV000286342",
          "RCV001861297",
          "RCV002523580"
        ],
        "variationId": 358553
      }
    ]
  },
  "type": "amino-acid"
}