{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA116674",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 114,
          "referenceAllele": "R",
          "start": 113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012269",
      "geneNCBI_id": 11277,
      "geneSymbol": "TREX1",
      "hgvs": [
        "NP_338599.1:p.Arg114His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA116673",
          "hgvs": "NM_033629.6:c.341G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180323"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19218[alleleid]",
        "alleleId": 19218,
        "preferredName": "NM_033629.6(TREX1):c.341G>A (p.Arg114His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4179",
        "RCV": [
          "RCV000004396",
          "RCV000004397",
          "RCV000388382",
          "RCV000256102",
          "RCV000850611",
          "RCV001266495",
          "RCV002281693",
          "RCV004540989"
        ],
        "variationId": 4179
      }
    ]
  },
  "type": "amino-acid"
}