{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2741940696",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 418,
          "referenceAllele": "S",
          "start": 417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "NP_054728.2:p.Ser418Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA412947192",
          "hgvs": "NM_014009.4:c.1253G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS173407"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2903943[alleleid]",
        "alleleId": 2903943,
        "preferredName": "NM_014009.4(FOXP3):c.1253G>C (p.Ser418Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2745750",
        "RCV": [
          "RCV003511591"
        ],
        "variationId": 2745750
      }
    ]
  },
  "type": "amino-acid"
}