{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA109398",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 18,
          "referenceAllele": "C",
          "start": 17
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006107",
      "geneNCBI_id": 3651,
      "geneSymbol": "PDX1",
      "hgvs": [
        "NP_000200.1:p.Cys18Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA325635",
          "hgvs": "NM_000209.4:c.52T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146758"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23901[alleleid]",
        "alleleId": 23901,
        "preferredName": "NM_000209.4(PDX1):c.52T>C (p.Cys18Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8862",
        "RCV": [
          "RCV000009412",
          "RCV000439286",
          "RCV001799504",
          "RCV002482844"
        ],
        "variationId": 8862
      }
    ]
  },
  "type": "amino-acid"
}