{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826590471",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 66,
          "referenceAllele": "M",
          "start": 65
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NP_001268653.2:p.Met66Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA278433",
          "hgvs": "NM_001281724.3:c.197T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS708150"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=165804[alleleid]",
        "alleleId": 165804,
        "preferredName": "NM_001370658.1(BTD):c.197T>G (p.Met66Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/156000",
        "RCV": [
          "RCV000144056",
          "RCV003323415"
        ],
        "variationId": 156000
      }
    ]
  },
  "type": "amino-acid"
}