{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827927646",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 334,
          "referenceAllele": "P",
          "start": 333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "NP_001341656.1:p.Pro334His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA162922",
          "hgvs": "NM_001354727.2:c.1001C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622952"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15292[alleleid]",
        "alleleId": 15292,
        "preferredName": "NM_004628.5(XPC):c.1001C>A (p.Pro334His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/253",
        "RCV": [
          "RCV000000277",
          "RCV000122346",
          "RCV000885048",
          "RCV002257356",
          "RCV003904788"
        ],
        "variationId": 253
      }
    ]
  },
  "type": "amino-acid"
}