{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829703380",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 118,
          "referenceAllele": "R",
          "start": 117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012269",
      "geneNCBI_id": 11277,
      "geneSymbol": "TREX1",
      "hgvs": [
        "NP_009179.2:p.Arg118Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2376642",
          "hgvs": "NM_007248.5:c.352C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172706"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=519561[alleleid]",
        "alleleId": 519561,
        "preferredName": "NM_033629.6(TREX1):c.382C>T (p.Arg128Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/535847",
        "RCV": [
          "RCV000644052",
          "RCV004527704"
        ],
        "variationId": 535847
      }
    ]
  },
  "type": "amino-acid"
}