{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825138190",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 366,
          "referenceAllele": "P",
          "start": 365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NP_000268.1:p.Pro366Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA386493309",
          "hgvs": "NM_000277.3:c.1097C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146824"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=981070[alleleid]",
        "alleleId": 981070,
        "preferredName": "NM_000277.3(PAH):c.1097C>T (p.Pro366Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/993142",
        "RCV": [
          "RCV001284319",
          "RCV002537932"
        ],
        "variationId": 993142
      }
    ]
  },
  "type": "amino-acid"
}