{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580132690",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 113,
          "referenceAllele": "A",
          "start": 112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026226",
      "geneNCBI_id": 390992,
      "geneSymbol": "HES3",
      "hgvs": [
        "NP_001019769.1:p.Ala113Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA338087974",
          "hgvs": "NM_001024598.4:c.338C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS149240"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2236328[alleleid]",
        "alleleId": 2236328,
        "preferredName": "NM_001024598.4(HES3):c.338C>A (p.Ala113Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2254258",
        "RCV": [
          "RCV004108021"
        ],
        "variationId": 2254258
      }
    ]
  },
  "type": "amino-acid"
}