{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829645498",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 189,
          "referenceAllele": "T",
          "start": 188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007323",
      "geneNCBI_id": 10801,
      "geneSymbol": "SEPTIN9",
      "hgvs": [
        "NP_006631.2:p.Thr189Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8793254",
          "hgvs": "NM_006640.5:c.565A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172172"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=741066[alleleid]",
        "alleleId": 741066,
        "preferredName": "NM_001113491.2(SEPTIN9):c.619A>G (p.Thr207Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/734847",
        "RCV": [
          "RCV000910308",
          "RCV004028977"
        ],
        "variationId": 734847
      }
    ]
  },
  "type": "amino-acid"
}