{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916037818",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 395,
          "referenceAllele": "A",
          "start": 394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NP_001341233.1:p.Ala395Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA229374",
          "hgvs": "NM_001354304.2:c.1184C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625587"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=108284[alleleid]",
        "alleleId": 108284,
        "preferredName": "NM_000277.3(PAH):c.1184C>A (p.Ala395Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/102548",
        "RCV": [
          "RCV000088782",
          "RCV002509213"
        ],
        "variationId": 102548
      }
    ]
  },
  "type": "amino-acid"
}