{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825547568",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 438,
          "referenceAllele": "E",
          "start": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017791",
      "geneNCBI_id": 11138,
      "geneSymbol": "TBC1D8",
      "hgvs": [
        "NP_001095896.1:p.Glu438Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1805096",
          "hgvs": "NM_001102426.3:c.1312G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS151460"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2211589[alleleid]",
        "alleleId": 2211589,
        "preferredName": "NM_001330348.2(TBC1D8):c.1357G>A (p.Glu453Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2224282",
        "RCV": [
          "RCV004084487"
        ],
        "variationId": 2224282
      }
    ]
  },
  "type": "amino-acid"
}