{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916037847",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 421,
          "referenceAllele": "I",
          "start": 420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NP_001341233.1:p.Ile421Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA229420",
          "hgvs": "NM_001354304.2:c.1262T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625587"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=108318[alleleid]",
        "alleleId": 108318,
        "preferredName": "NM_000277.3(PAH):c.1262T>C (p.Ile421Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/102582",
        "RCV": [
          "RCV000088820",
          "RCV001388783"
        ],
        "variationId": 102582
      }
    ]
  },
  "type": "amino-acid"
}