{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828448775",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 128,
          "referenceAllele": "R",
          "start": 127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NP_001357681.1:p.Arg128His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA278201",
          "hgvs": "NM_001370752.1:c.383G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS708153"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=36343[alleleid]",
        "alleleId": 36343,
        "preferredName": "NM_001370658.1(BTD):c.383G>A (p.Arg128His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/25005",
        "RCV": [
          "RCV000490188",
          "RCV000021924",
          "RCV003226165",
          "RCV002513163"
        ],
        "variationId": 25005
      }
    ]
  },
  "type": "amino-acid"
}