{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826590367",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 523,
          "referenceAllele": "D",
          "start": 522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NP_001268652.2:p.Asp523Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA220321",
          "hgvs": "NM_001281723.3:c.1569C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA351962595",
          "hgvs": "NM_001281723.3:c.1569C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS708151"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=36437[alleleid]",
        "alleleId": 36437,
        "preferredName": "NM_001370658.1(BTD):c.1569C>A (p.Asp523Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/25103",
        "RCV": [
          "RCV000022028",
          "RCV000078071"
        ],
        "variationId": 25103
      }
    ]
  },
  "type": "amino-acid"
}