{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA229872",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 320,
          "referenceAllele": "K",
          "start": 319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NP_000268.1:p.Lys320Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA229871",
          "hgvs": "NM_000277.3:c.960G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA386291550",
          "hgvs": "NM_000277.3:c.960G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146824"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=108646[alleleid]",
        "alleleId": 108646,
        "preferredName": "NM_000277.3(PAH):c.960G>C (p.Lys320Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/102910",
        "RCV": [
          "RCV000089174",
          "RCV000666332"
        ],
        "variationId": 102910
      }
    ]
  },
  "type": "amino-acid"
}