{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573067654",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 618,
          "referenceAllele": "V",
          "start": 617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001149",
      "geneNCBI_id": 701,
      "geneSymbol": "BUB1B",
      "hgvs": [
        "NP_001202.5:p.Val618Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA157756",
          "hgvs": "NM_001211.6:c.1853T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS707793"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=137508[alleleid]",
        "alleleId": 137508,
        "preferredName": "NM_001211.6(BUB1B):c.1853T>C (p.Val618Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/133769",
        "RCV": [
          "RCV000120419",
          "RCV000468405",
          "RCV001598627",
          "RCV003315739"
        ],
        "variationId": 133769
      }
    ]
  },
  "type": "amino-acid"
}