{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA658819850",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 73,
          "referenceAllele": "P",
          "start": 72
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012269",
      "geneNCBI_id": 11277,
      "geneSymbol": "TREX1",
      "hgvs": [
        "NP_338599.1:p.Pro73Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2376601",
          "hgvs": "NM_033629.6:c.218C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180323"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=513538[alleleid]",
        "alleleId": 513538,
        "preferredName": "NM_033629.6(TREX1):c.218C>T (p.Pro73Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/522920",
        "RCV": [
          "RCV000626116",
          "RCV000656254",
          "RCV001219467",
          "RCV000764509"
        ],
        "variationId": 522920
      }
    ]
  },
  "type": "amino-acid"
}