{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580369730",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 1905,
          "referenceAllele": "G",
          "start": 1904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018420",
      "geneNCBI_id": 29072,
      "geneSymbol": "SETD2",
      "hgvs": [
        "NP_054878.5:p.Gly1905Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA352534655",
          "hgvs": "NM_014159.7:c.5713G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS173482"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1860843[alleleid]",
        "alleleId": 1860843,
        "preferredName": "NM_014159.7(SETD2):c.5713G>A (p.Gly1905Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1803818",
        "RCV": [
          "RCV002468443",
          "RCV003138280"
        ],
        "variationId": 1803818
      }
    ]
  },
  "type": "amino-acid"
}