{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828508803",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 64,
          "referenceAllele": "Q",
          "start": 63
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003579",
      "geneNCBI_id": 2184,
      "geneSymbol": "FAH",
      "hgvs": [
        "NP_001361306.1:p.Gln64His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA233966",
          "hgvs": "NM_001374377.1:c.192G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA393618043",
          "hgvs": "NM_001374377.1:c.192G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS707559"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=33906[alleleid]",
        "alleleId": 33906,
        "preferredName": "NM_000137.4(FAH):c.192G>T (p.Gln64His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/21054",
        "RCV": [
          "RCV000020126",
          "RCV000153218",
          "RCV003445079"
        ],
        "variationId": 21054
      }
    ]
  },
  "type": "amino-acid"
}