{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828500363",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 283,
          "referenceAllele": "A",
          "start": 282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NP_001361241.1:p.Ala283Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16618741",
          "hgvs": "NM_001374312.2:c.847G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS709975"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=407537[alleleid]",
        "alleleId": 407537,
        "preferredName": "NM_001032221.6(STXBP1):c.889G>A (p.Ala297Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/420158",
        "RCV": [
          "RCV000485374",
          "RCV001851183"
        ],
        "variationId": 420158
      }
    ]
  },
  "type": "amino-acid"
}