{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825253114",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 132,
          "referenceAllele": "D",
          "start": 131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017944",
      "geneNCBI_id": 51010,
      "geneSymbol": "EXOSC3",
      "hgvs": [
        "NP_001002269.1:p.Asp132Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA204654",
          "hgvs": "NM_001002269.2:c.395A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147736"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=40348[alleleid]",
        "alleleId": 40348,
        "preferredName": "NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/31688",
        "RCV": [
          "RCV000024366",
          "RCV000190687",
          "RCV000224817",
          "RCV000761614",
          "RCV001836713",
          "RCV003156064"
        ],
        "variationId": 31688
      }
    ]
  },
  "type": "amino-acid"
}