{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA658829232",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 5,
          "referenceAllele": "A",
          "start": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017944",
      "geneNCBI_id": 51010,
      "geneSymbol": "EXOSC3",
      "hgvs": [
        "NP_057126.2:p.Ala5Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5062882",
          "hgvs": "NM_016042.4:c.13G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS174921"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=536776[alleleid]",
        "alleleId": 536776,
        "preferredName": "NM_016042.4(EXOSC3):c.13G>T (p.Ala5Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/546514",
        "RCV": [
          "RCV000658406",
          "RCV001165974"
        ],
        "variationId": 546514
      }
    ]
  },
  "type": "amino-acid"
}