{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573067687",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 921,
          "referenceAllele": "Q",
          "start": 920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001149",
      "geneNCBI_id": 701,
      "geneSymbol": "BUB1B",
      "hgvs": [
        "NP_001202.5:p.Gln921His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA118491",
          "hgvs": "NM_001211.6:c.2763G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA391687887",
          "hgvs": "NM_001211.6:c.2763G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS707793"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=21801[alleleid]",
        "alleleId": 21801,
        "preferredName": "NM_001211.6(BUB1B):c.2763G>C (p.Gln921His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/6762",
        "RCV": [
          "RCV000007156",
          "RCV000007157",
          "RCV001552489",
          "RCV004018580"
        ],
        "variationId": 6762
      }
    ]
  },
  "type": "amino-acid"
}