{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499251811",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Y",
          "end": 167,
          "referenceAllele": "N",
          "start": 166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NP_001341233.1:p.Asn167Tyr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16020802",
          "hgvs": "NM_001354304.2:c.499A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625587"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1053686[alleleid]",
        "alleleId": 1053686,
        "preferredName": "NM_000277.3(PAH):c.499A>T (p.Asn167Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1065373",
        "RCV": [
          "RCV001375887"
        ],
        "variationId": 1065373
      }
    ]
  },
  "type": "amino-acid"
}