{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826835874",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 862,
          "referenceAllele": "Q",
          "start": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "NP_001280486.1:p.Gln862His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8051915",
          "hgvs": "NM_001293557.2:c.2586A>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA395874357",
          "hgvs": "NM_001293557.2:c.2586A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS165003"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=770944[alleleid]",
        "alleleId": 770944,
        "preferredName": "NM_001370466.1(NOD2):c.2586A>C (p.Gln862His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/765296",
        "RCV": [
          "RCV001418943",
          "RCV002544606"
        ],
        "variationId": 765296
      }
    ]
  },
  "type": "amino-acid"
}