{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830323068",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 39,
          "referenceAllele": "W",
          "start": 38
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "NP_696996.1:p.Trp39Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA347450",
          "hgvs": "NM_153321.3:c.117G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA398271013",
          "hgvs": "NM_153321.3:c.117G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS182851"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=204478[alleleid]",
        "alleleId": 204478,
        "preferredName": "NM_000304.4(PMP22):c.117G>C (p.Trp39Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/208243",
        "RCV": [
          "RCV000195195",
          "RCV000790172"
        ],
        "variationId": 208243
      }
    ]
  },
  "type": "amino-acid"
}