{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA093554",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 456,
          "referenceAllele": "Q",
          "start": 455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NP_000051.1:p.Gln456His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA285304",
          "hgvs": "NM_000060.4:c.1368A>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA351608648",
          "hgvs": "NM_000060.4:c.1368A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146612"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=16941[alleleid]",
        "alleleId": 16941,
        "preferredName": "NM_001370658.1(BTD):c.1308A>C (p.Gln436His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1902",
        "RCV": [
          "RCV000001979",
          "RCV000078065",
          "RCV001251700",
          "RCV004018539"
        ],
        "variationId": 1902
      }
    ]
  },
  "type": "amino-acid"
}