{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580288066",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 250,
          "referenceAllele": "Q",
          "start": 249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NP_003156.1:p.Gln250Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA374934084",
          "hgvs": "NM_003165.6:c.748C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168978"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1860109[alleleid]",
        "alleleId": 1860109,
        "preferredName": "NM_001032221.6(STXBP1):c.748C>G (p.Gln250Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1803080",
        "RCV": [
          "RCV002466377"
        ],
        "variationId": 1803080
      }
    ]
  },
  "type": "amino-acid"
}