{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826591720",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 189,
          "referenceAllele": "R",
          "start": 188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NP_001268654.1:p.Arg189Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2277351",
          "hgvs": "NM_001281725.2:c.565C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS162154"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=452116[alleleid]",
        "alleleId": 452116,
        "preferredName": "NM_001370658.1(BTD):c.565C>T (p.Arg189Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/458809",
        "RCV": [
          "RCV000537387",
          "RCV001591206",
          "RCV001778993",
          "RCV002527692"
        ],
        "variationId": 458809
      }
    ]
  },
  "type": "amino-acid"
}