{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA101448",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 193,
          "referenceAllele": "R",
          "start": 192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012591",
      "geneNCBI_id": 7389,
      "geneSymbol": "UROD",
      "hgvs": [
        "NP_000365.3:p.Arg193Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10586360",
          "hgvs": "NM_000374.5:c.578G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146918"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=248651[alleleid]",
        "alleleId": 248651,
        "preferredName": "NM_000374.5(UROD):c.578G>C (p.Arg193Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/254172",
        "RCV": [
          "RCV000240668",
          "RCV001857846",
          "RCV002509339"
        ],
        "variationId": 254172
      }
    ]
  },
  "type": "amino-acid"
}