{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA348786",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 166,
          "referenceAllele": "R",
          "start": 165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003113",
      "geneNCBI_id": 1869,
      "geneSymbol": "E2F1",
      "hgvs": [
        "NP_005216.1:p.Arg166His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA348785",
          "hgvs": "NM_005225.3:c.497G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170873"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=220999[alleleid]",
        "alleleId": 220999,
        "preferredName": "NM_005225.3(E2F1):c.497G>A (p.Arg166His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/219310",
        "RCV": [
          "RCV000204567"
        ],
        "variationId": 219310
      }
    ]
  },
  "type": "amino-acid"
}