{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA162849",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 228,
          "referenceAllele": "R",
          "start": 227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012814",
      "geneNCBI_id": 7507,
      "geneSymbol": "XPA",
      "hgvs": [
        "NP_000371.1:p.Arg228Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA162847",
          "hgvs": "NM_000380.4:c.683G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146924"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=139202[alleleid]",
        "alleleId": 139202,
        "preferredName": "NM_000380.4(XPA):c.683G>A (p.Arg228Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/135463",
        "RCV": [
          "RCV000122321",
          "RCV000665473",
          "RCV002260991",
          "RCV002257444"
        ],
        "variationId": 135463
      }
    ]
  },
  "type": "amino-acid"
}