{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA117555",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 869,
          "referenceAllele": "I",
          "start": 868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013830",
      "geneNCBI_id": 26047,
      "geneSymbol": "CNTNAP2",
      "hgvs": [
        "NP_054860.1:p.Ile869Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA117554",
          "hgvs": "NM_014141.6:c.2606T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS173472"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20532[alleleid]",
        "alleleId": 20532,
        "preferredName": "NM_014141.6(CNTNAP2):c.2606T>C (p.Ile869Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5493",
        "RCV": [
          "RCV000005828",
          "RCV000711329",
          "RCV001088251",
          "RCV002426491"
        ],
        "variationId": 5493
      }
    ]
  },
  "type": "amino-acid"
}