{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827195980",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 424,
          "referenceAllele": "D",
          "start": 423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NP_001310511.1:p.Asp424His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA090886",
          "hgvs": "NM_001323582.1:c.1270G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625294"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=16939[alleleid]",
        "alleleId": 16939,
        "preferredName": "NM_001370658.1(BTD):c.1270G>C (p.Asp424His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1900",
        "RCV": [
          "RCV000001977",
          "RCV000078064",
          "RCV002381235"
        ],
        "variationId": 1900
      }
    ]
  },
  "type": "amino-acid"
}