{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA108118",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 164,
          "referenceAllele": "C",
          "start": 163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003356",
      "geneNCBI_id": 5167,
      "geneSymbol": "ENPP1",
      "hgvs": [
        "NP_006199.2:p.Cys164Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA145331",
          "hgvs": "NM_006208.3:c.491G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA365661596",
          "hgvs": "NM_006208.3:c.490T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171769"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=94332[alleleid]",
        "alleleId": 94332,
        "preferredName": "NM_006208.3(ENPP1):c.491G>C (p.Cys164Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/88751",
        "RCV": [
          "RCV000074402"
        ],
        "variationId": 88751
      }
    ]
  },
  "type": "amino-acid"
}