{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826263756",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 641,
          "referenceAllele": "Y",
          "start": 640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "NP_001190176.1:p.Tyr641Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16602671",
          "hgvs": "NM_001203247.2:c.1922A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS157925"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=363097[alleleid]",
        "alleleId": 363097,
        "preferredName": "NM_004456.5(EZH2):c.1937A>C (p.Tyr646Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/376218",
        "RCV": [
          "RCV000423969",
          "RCV000433156",
          "RCV000441670"
        ],
        "variationId": 376218
      }
    ]
  },
  "type": "amino-acid"
}