{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA106643",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 418,
          "referenceAllele": "T",
          "start": 417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NP_000268.1:p.Thr418Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA229418",
          "hgvs": "NM_000277.3:c.1252A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146824"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=108316[alleleid]",
        "alleleId": 108316,
        "preferredName": "NM_000277.3(PAH):c.1252A>C (p.Thr418Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/102580",
        "RCV": [
          "RCV000088818",
          "RCV000672448"
        ],
        "variationId": 102580
      }
    ]
  },
  "type": "amino-acid"
}