{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829703393",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 124,
          "referenceAllele": "L",
          "start": 123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012269",
      "geneNCBI_id": 11277,
      "geneSymbol": "TREX1",
      "hgvs": [
        "NP_009179.2:p.Leu124Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA352618029",
          "hgvs": "NM_007248.5:c.370C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172706"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3114286[alleleid]",
        "alleleId": 3114286,
        "preferredName": "NM_033629.6(TREX1):c.400C>A (p.Leu134Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2951438",
        "RCV": [
          "RCV003805140"
        ],
        "variationId": 2951438
      }
    ]
  },
  "type": "amino-acid"
}