{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA100712",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 239,
          "referenceAllele": "R",
          "start": 238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001967",
      "geneNCBI_id": 1146,
      "geneSymbol": "CHRNG",
      "hgvs": [
        "NP_005190.4:p.Arg239Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA128049",
          "hgvs": "NM_005199.5:c.715C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170850"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=33376[alleleid]",
        "alleleId": 33376,
        "preferredName": "NM_005199.5(CHRNG):c.715C>T (p.Arg239Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/18337",
        "RCV": [
          "RCV000020004",
          "RCV000020003",
          "RCV003556054"
        ],
        "variationId": 18337
      }
    ]
  },
  "type": "amino-acid"
}