{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830305483",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 707,
          "referenceAllele": "DYRYSQADALKYVGIEREMEIP",
          "start": 685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "NP_694543.1:p.Asp686Ter"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA277020",
          "hgvs": "NM_152998.3:c.2055dup"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS182746"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=207471[alleleid]",
        "alleleId": 207471,
        "preferredName": "NM_004456.5(EZH2):c.2187dup (p.Asp730Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/210967",
        "RCV": [
          "RCV000192778",
          "RCV001778781"
        ],
        "variationId": 210967
      }
    ]
  },
  "type": "amino-acid"
}