{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645471523",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 308,
          "referenceAllele": "W",
          "start": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "NP_006763.2:p.Trp308Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16605532",
          "hgvs": "NM_006772.3:c.922T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA363685104",
          "hgvs": "NM_006772.3:c.922T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172291"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=370419[alleleid]",
        "alleleId": 370419,
        "preferredName": "NM_006772.3(SYNGAP1):c.922T>C (p.Trp308Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/391294",
        "RCV": [
          "RCV000433653"
        ],
        "variationId": 391294
      }
    ]
  },
  "type": "amino-acid"
}