{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA229772",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 267,
          "referenceAllele": "Q",
          "start": 266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NP_000268.1:p.Gln267His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA229771",
          "hgvs": "NM_000277.3:c.801G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA6748841",
          "hgvs": "NM_000277.3:c.801G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146824"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=108576[alleleid]",
        "alleleId": 108576,
        "preferredName": "NM_000277.3(PAH):c.801G>C (p.Gln267His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/102840",
        "RCV": [
          "RCV000089099",
          "RCV000758096"
        ],
        "variationId": 102840
      }
    ]
  },
  "type": "amino-acid"
}