{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826836754",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 87,
          "referenceAllele": "R",
          "start": 86
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007323",
      "geneNCBI_id": 10801,
      "geneSymbol": "SEPTIN9",
      "hgvs": [
        "NP_001280624.1:p.Arg87Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA340468",
          "hgvs": "NM_001293695.2:c.259C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS165014"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20902[alleleid]",
        "alleleId": 20902,
        "preferredName": "NM_001113491.2(SEPTIN9):c.316C>T (p.Arg106Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5863",
        "RCV": [
          "RCV000006221",
          "RCV000516514",
          "RCV004018574"
        ],
        "variationId": 5863
      }
    ]
  },
  "type": "amino-acid"
}