{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828410125",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 132,
          "referenceAllele": "S",
          "start": 131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NP_001357333.1:p.Ser132Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA019748",
          "hgvs": "NM_001370404.1:c.395C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706316"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=59196[alleleid]",
        "alleleId": 59196,
        "preferredName": "NM_000548.5(TSC2):c.395C>G (p.Ser132Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/50034",
        "RCV": [
          "RCV000043300",
          "RCV000464621",
          "RCV000421754",
          "RCV002354225"
        ],
        "variationId": 50034
      }
    ]
  },
  "type": "amino-acid"
}