{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828501505",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 283,
          "referenceAllele": "E",
          "start": 282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NP_001361243.1:p.Glu283Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA151362",
          "hgvs": "NM_001374314.1:c.847G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS709992"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=132587[alleleid]",
        "alleleId": 132587,
        "preferredName": "NM_001032221.6(STXBP1):c.847G>A (p.Glu283Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/127076",
        "RCV": [
          "RCV000114939",
          "RCV000440506",
          "RCV000525775"
        ],
        "variationId": 127076
      }
    ]
  },
  "type": "amino-acid"
}