{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA105884",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 269,
          "referenceAllele": "I",
          "start": 268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NP_000268.1:p.Ile269Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA229775",
          "hgvs": "NM_000277.3:c.805A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146824"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=108578[alleleid]",
        "alleleId": 108578,
        "preferredName": "NM_000277.3(PAH):c.805A>C (p.Ile269Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/102842",
        "RCV": [
          "RCV000089101",
          "RCV000281383"
        ],
        "variationId": 102842
      }
    ]
  },
  "type": "amino-acid"
}