{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573067620",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 334,
          "referenceAllele": "P",
          "start": 333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001149",
      "geneNCBI_id": 701,
      "geneSymbol": "BUB1B",
      "hgvs": [
        "NP_001202.5:p.Pro334Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA157787",
          "hgvs": "NM_001211.6:c.1001C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS707793"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=137518[alleleid]",
        "alleleId": 137518,
        "preferredName": "NM_001211.6(BUB1B):c.1001C>T (p.Pro334Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/133779",
        "RCV": [
          "RCV000120430",
          "RCV000763966",
          "RCV001762250",
          "RCV000472793",
          "RCV001543132"
        ],
        "variationId": 133779
      }
    ]
  },
  "type": "amino-acid"
}