{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826873498",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 130,
          "referenceAllele": "C",
          "start": 129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000613",
      "geneNCBI_id": 348,
      "geneSymbol": "APOE",
      "hgvs": [
        "NP_001289619.1:p.Cys130Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA127512",
          "hgvs": "NM_001302690.2:c.388T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS165793"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=32903[alleleid]",
        "alleleId": 32903,
        "preferredName": "NM_000041.4(APOE):c.388T>C (p.Cys130Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/17864",
        "RCV": [
          "RCV000019448",
          "RCV000292119",
          "RCV000826089",
          "RCV000845581",
          "RCV000991302",
          "RCV001262791",
          "RCV001195807"
        ],
        "variationId": 17864
      }
    ]
  },
  "type": "amino-acid"
}