{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA255864",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 251,
          "referenceAllele": "E",
          "start": 250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "NP_054728.2:p.Glu251del"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA255861",
          "hgvs": "NM_014009.4:c.751_753del"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS173407"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=26452[alleleid]",
        "alleleId": 26452,
        "preferredName": "NM_014009.4(FOXP3):c.751_753del (p.Glu251del)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/11413",
        "RCV": [
          "RCV000012166"
        ],
        "variationId": 11413
      }
    ]
  },
  "type": "amino-acid"
}