{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827659416",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 188,
          "referenceAllele": "R",
          "start": 187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006601",
      "geneNCBI_id": 3981,
      "geneSymbol": "LIG4",
      "hgvs": [
        "NP_001339527.1:p.Arg188Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7043827",
          "hgvs": "NM_001352598.2:c.563G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625429"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=333409[alleleid]",
        "alleleId": 333409,
        "preferredName": "NM_206937.2(LIG4):c.563G>A (p.Arg188Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/310990",
        "RCV": [
          "RCV000302024",
          "RCV000359181",
          "RCV000481605",
          "RCV002520852"
        ],
        "variationId": 310990
      }
    ]
  },
  "type": "amino-acid"
}