{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA096781",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 289,
          "referenceAllele": "C",
          "start": 288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024464",
      "geneNCBI_id": 113189,
      "geneSymbol": "CHST14",
      "hgvs": [
        "NP_569735.1:p.Cys289Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA281531",
          "hgvs": "NM_130468.4:c.866G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA391767623",
          "hgvs": "NM_130468.4:c.865T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180895"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17381[alleleid]",
        "alleleId": 17381,
        "preferredName": "NM_130468.4(CHST14):c.866G>C (p.Cys289Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2342",
        "RCV": [
          "RCV000002432"
        ],
        "variationId": 2342
      }
    ]
  },
  "type": "amino-acid"
}