{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828502281",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 500,
          "referenceAllele": "R",
          "start": 499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NP_001361244.1:p.Arg500His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA318888",
          "hgvs": "NM_001374315.2:c.1499G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS709974"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=202325[alleleid]",
        "alleleId": 202325,
        "preferredName": "NM_001032221.6(STXBP1):c.1607G>A (p.Arg536His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/207438",
        "RCV": [
          "RCV000500216",
          "RCV001241309",
          "RCV002317656"
        ],
        "variationId": 207438
      }
    ]
  },
  "type": "amino-acid"
}