{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA220588",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 281,
          "referenceAllele": "P",
          "start": 280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NP_000268.1:p.Pro281Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA220587",
          "hgvs": "NM_000277.3:c.841C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146824"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=98656[alleleid]",
        "alleleId": 98656,
        "preferredName": "NM_000277.3(PAH):c.841C>T (p.Pro281Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/92749",
        "RCV": [
          "RCV000078533",
          "RCV000721177"
        ],
        "variationId": 92749
      }
    ]
  },
  "type": "amino-acid"
}