{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573072290",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 68,
          "referenceAllele": "Q",
          "start": 67
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NP_001357682.1:p.Gln68Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2277272",
          "hgvs": "NM_001370753.1:c.202C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS708152"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=367247[alleleid]",
        "alleleId": 367247,
        "preferredName": "NM_001370658.1(BTD):c.202C>G (p.Gln68Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/385308",
        "RCV": [
          "RCV000755884",
          "RCV000876680",
          "RCV002521735",
          "RCV003912709"
        ],
        "variationId": 385308
      }
    ]
  },
  "type": "amino-acid"
}