{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA103468",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 95,
          "referenceAllele": "W",
          "start": 94
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011194",
      "geneNCBI_id": 54345,
      "geneSymbol": "SOX18",
      "hgvs": [
        "NP_060889.1:p.Trp95Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA119195",
          "hgvs": "NM_018419.3:c.283T>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA409755337",
          "hgvs": "NM_018419.3:c.283T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS176258"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23040[alleleid]",
        "alleleId": 23040,
        "preferredName": "NM_018419.3(SOX18):c.283T>A (p.Trp95Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8001",
        "RCV": [
          "RCV000008465"
        ],
        "variationId": 8001
      }
    ]
  },
  "type": "amino-acid"
}