{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828502231",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 442,
          "referenceAllele": "W",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NP_001361244.1:p.Trp442Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA374937909",
          "hgvs": "NM_001374315.2:c.1326G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA374937911",
          "hgvs": "NM_001374315.2:c.1326G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS709974"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=585260[alleleid]",
        "alleleId": 585260,
        "preferredName": "NM_001032221.6(STXBP1):c.1434G>C (p.Trp478Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/594197",
        "RCV": [
          "RCV000729430"
        ],
        "variationId": 594197
      }
    ]
  },
  "type": "amino-acid"
}