{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830305455",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Y",
          "end": 650,
          "referenceAllele": "H",
          "start": 649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "NP_694543.1:p.His650Tyr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA259759",
          "hgvs": "NM_152998.3:c.1948C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS182746"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=39155[alleleid]",
        "alleleId": 39155,
        "preferredName": "NM_004456.5(EZH2):c.2080C>T (p.His694Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/30199",
        "RCV": [
          "RCV000023118"
        ],
        "variationId": 30199
      }
    ]
  },
  "type": "amino-acid"
}