{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139703631",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 188,
          "referenceAllele": "A",
          "start": 187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003811",
      "geneNCBI_id": 2290,
      "geneSymbol": "FOXG1",
      "hgvs": [
        "NP_005240.3:p.Ala188Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA389475369",
          "hgvs": "NM_005249.5:c.563C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170896"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=917786[alleleid]",
        "alleleId": 917786,
        "preferredName": "NM_005249.5(FOXG1):c.563C>A (p.Ala188Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/929466",
        "RCV": [
          "RCV001194653"
        ],
        "variationId": 929466
      }
    ]
  },
  "type": "amino-acid"
}