{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828508971",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 261,
          "referenceAllele": "P",
          "start": 260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003579",
      "geneNCBI_id": 2184,
      "geneSymbol": "FAH",
      "hgvs": [
        "NP_001361306.1:p.Pro261Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA233969",
          "hgvs": "NM_001374377.1:c.782C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS707559"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=33910[alleleid]",
        "alleleId": 33910,
        "preferredName": "NM_000137.4(FAH):c.782C>T (p.Pro261Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/21058",
        "RCV": [
          "RCV000020129",
          "RCV000153220"
        ],
        "variationId": 21058
      }
    ]
  },
  "type": "amino-acid"
}