{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826264136",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 727,
          "referenceAllele": "Y",
          "start": 726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "NP_001190177.1:p.Tyr727His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16618392",
          "hgvs": "NM_001203248.2:c.2179T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS157926"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=407044[alleleid]",
        "alleleId": 407044,
        "preferredName": "NM_004456.5(EZH2):c.2221T>C (p.Tyr741His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/421581",
        "RCV": [
          "RCV000485321"
        ],
        "variationId": 421581
      }
    ]
  },
  "type": "amino-acid"
}