{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA106581",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 87,
          "referenceAllele": "S",
          "start": 86
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NP_000268.1:p.Ser87Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA114359",
          "hgvs": "NM_000277.3:c.261C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA16020758",
          "hgvs": "NM_000277.3:c.259A>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA386304103",
          "hgvs": "NM_000277.3:c.261C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146824"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15622[alleleid]",
        "alleleId": 15622,
        "preferredName": "NM_000277.3(PAH):c.261C>A (p.Ser87Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/583",
        "RCV": [
          "RCV000000613",
          "RCV000088884",
          "RCV000763293",
          "RCV002512609",
          "RCV003934787"
        ],
        "variationId": 583
      }
    ]
  },
  "type": "amino-acid"
}