{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA091551",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 43,
          "referenceAllele": "R",
          "start": 42
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000613",
      "geneNCBI_id": 348,
      "geneSymbol": "APOE",
      "hgvs": [
        "NP_000032.1:p.Arg43Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA127525",
          "hgvs": "NM_000041.4:c.127C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146594"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=32919[alleleid]",
        "alleleId": 32919,
        "preferredName": "NM_000041.4(APOE):c.127C>T (p.Arg43Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/17880",
        "RCV": [
          "RCV000019468",
          "RCV002496418"
        ],
        "variationId": 17880
      }
    ]
  },
  "type": "amino-acid"
}