{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139745923",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 393,
          "referenceAllele": "R",
          "start": 392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "NP_071445.1:p.Arg393Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8051484",
          "hgvs": "NM_022162.3:c.1177C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177781"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=843940[alleleid]",
        "alleleId": 843940,
        "preferredName": "NM_001370466.1(NOD2):c.1096C>T (p.Arg366Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/853895",
        "RCV": [
          "RCV002554411"
        ],
        "variationId": 853895
      }
    ]
  },
  "type": "amino-acid"
}