{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA109833",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 494,
          "referenceAllele": "T",
          "start": 493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011782",
      "geneNCBI_id": 7054,
      "geneSymbol": "TH",
      "hgvs": [
        "NP_954986.2:p.Thr494Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA278130",
          "hgvs": "NM_199292.3:c.1481C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS185416"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=27365[alleleid]",
        "alleleId": 27365,
        "preferredName": "NM_000360.4(TH):c.1388C>T (p.Thr463Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/12326",
        "RCV": [
          "RCV000013119",
          "RCV000622283"
        ],
        "variationId": 12326
      }
    ]
  },
  "type": "amino-acid"
}