{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA105408",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 394,
          "referenceAllele": "D",
          "start": 393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NP_000268.1:p.Asp394His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA229371",
          "hgvs": "NM_000277.3:c.1180G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146824"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=108281[alleleid]",
        "alleleId": 108281,
        "preferredName": "NM_000277.3(PAH):c.1180G>C (p.Asp394His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/102545",
        "RCV": [
          "RCV000088779",
          "RCV000714571"
        ],
        "variationId": 102545
      }
    ]
  },
  "type": "amino-acid"
}