{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139691295",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 162,
          "referenceAllele": "Y",
          "start": 161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001149",
      "geneNCBI_id": 701,
      "geneSymbol": "BUB1B",
      "hgvs": [
        "NP_001202.5:p.Tyr162His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7475493",
          "hgvs": "NM_001211.6:c.484T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS707793"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=842256[alleleid]",
        "alleleId": 842256,
        "preferredName": "NM_001211.6(BUB1B):c.484T>C (p.Tyr162His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/855631",
        "RCV": [
          "RCV002240390"
        ],
        "variationId": 855631
      }
    ]
  },
  "type": "amino-acid"
}