{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA248384",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 126,
          "referenceAllele": "I",
          "start": 125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003800",
      "geneNCBI_id": 2296,
      "geneSymbol": "FOXC1",
      "hgvs": [
        "NP_001444.2:p.Ile126Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA248383",
          "hgvs": "NM_001453.3:c.377T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167384"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=106554[alleleid]",
        "alleleId": 106554,
        "preferredName": "NM_001453.3(FOXC1):c.377T>G (p.Ile126Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/100688",
        "RCV": [
          "RCV000190253"
        ],
        "variationId": 100688
      }
    ]
  },
  "type": "amino-acid"
}