{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573072897",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 233,
          "referenceAllele": "D",
          "start": 232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003579",
      "geneNCBI_id": 2184,
      "geneSymbol": "FAH",
      "hgvs": [
        "NP_001361309.1:p.Asp233Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA341565",
          "hgvs": "NM_001374380.1:c.698A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706310"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=33909[alleleid]",
        "alleleId": 33909,
        "preferredName": "NM_000137.4(FAH):c.698A>T (p.Asp233Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/21057",
        "RCV": [
          "RCV000020128"
        ],
        "variationId": 21057
      }
    ]
  },
  "type": "amino-acid"
}