{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA204454",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 248,
          "referenceAllele": "A",
          "start": 247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003806",
      "geneNCBI_id": 2304,
      "geneSymbol": "FOXE1",
      "hgvs": [
        "NP_004464.2:p.Ala248Gly"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA204453",
          "hgvs": "NM_004473.4:c.743C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170175"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=204978[alleleid]",
        "alleleId": 204978,
        "preferredName": "NM_004473.4(FOXE1):c.743C>G (p.Ala248Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/208453",
        "RCV": [
          "RCV000190467",
          "RCV000988238",
          "RCV003317142"
        ],
        "variationId": 208453
      }
    ]
  },
  "type": "amino-acid"
}