{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827982430",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 226,
          "referenceAllele": "D",
          "start": 225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NP_001341829.1:p.Asp226His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16023183",
          "hgvs": "NM_001354900.2:c.676G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS660145"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=406492[alleleid]",
        "alleleId": 406492,
        "preferredName": "NM_000038.6(APC):c.853G>C (p.Asp285His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/418934",
        "RCV": [
          "RCV000485770",
          "RCV000571343",
          "RCV002526532"
        ],
        "variationId": 418934
      }
    ]
  },
  "type": "amino-acid"
}