{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA101724",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 62,
          "referenceAllele": "P",
          "start": 61
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012591",
      "geneNCBI_id": 7389,
      "geneSymbol": "UROD",
      "hgvs": [
        "NP_000365.3:p.Pro62Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA251374",
          "hgvs": "NM_000374.5:c.185C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146918"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15109[alleleid]",
        "alleleId": 15109,
        "preferredName": "NM_000374.5(UROD):c.185C>T (p.Pro62Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/70",
        "RCV": [
          "RCV000000088",
          "RCV001851501"
        ],
        "variationId": 70
      }
    ]
  },
  "type": "amino-acid"
}