{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA162885",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 48,
          "referenceAllele": "L",
          "start": 47
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "NP_004619.3:p.Leu48Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA162883",
          "hgvs": "NM_004628.4:c.142C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170323"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=139214[alleleid]",
        "alleleId": 139214,
        "preferredName": "NM_004628.5(XPC):c.142C>T (p.Leu48Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/135475",
        "RCV": [
          "RCV000122333",
          "RCV000348650",
          "RCV001521210",
          "RCV003315791"
        ],
        "variationId": 135475
      }
    ]
  },
  "type": "amino-acid"
}