{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827177445",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 109,
          "referenceAllele": "Q",
          "start": 108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011132",
      "geneNCBI_id": 6616,
      "geneSymbol": "SNAP25",
      "hgvs": [
        "NP_001309835.1:p.Gln109His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA408266251",
          "hgvs": "NM_001322906.2:c.327G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA408266252",
          "hgvs": "NM_001322906.2:c.327G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS648205"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=797949[alleleid]",
        "alleleId": 797949,
        "preferredName": "NM_130811.4(SNAP25):c.327G>C (p.Gln109His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/809223",
        "RCV": [
          "RCV000997743"
        ],
        "variationId": 809223
      }
    ]
  },
  "type": "amino-acid"
}