{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645471760",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 716,
          "referenceAllele": "R",
          "start": 715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "NP_006763.2:p.Arg716Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16611900",
          "hgvs": "NM_006772.3:c.2147G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172291"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=395101[alleleid]",
        "alleleId": 395101,
        "preferredName": "NM_006772.3(SYNGAP1):c.2147G>A (p.Arg716Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/411585",
        "RCV": [
          "RCV000459972"
        ],
        "variationId": 411585
      }
    ]
  },
  "type": "amino-acid"
}