{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825566173",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 73,
          "referenceAllele": "R",
          "start": 72
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007323",
      "geneNCBI_id": 10801,
      "geneSymbol": "SEPTIN9",
      "hgvs": [
        "NP_001106964.1:p.Arg73Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8793269",
          "hgvs": "NM_001113492.2:c.218G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS151730"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=340486[alleleid]",
        "alleleId": 340486,
        "preferredName": "NM_001113491.2(SEPTIN9):c.710G>A (p.Arg237Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/325548",
        "RCV": [
          "RCV000365616",
          "RCV000890177",
          "RCV001795945",
          "RCV003940292",
          "RCV004021716"
        ],
        "variationId": 325548
      }
    ]
  },
  "type": "amino-acid"
}