{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829981395",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1446,
          "referenceAllele": "A",
          "start": 1445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NP_066399.2:p.Ala1446Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA020493",
          "hgvs": "NM_021055.3:c.4336G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622601"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=139127[alleleid]",
        "alleleId": 139127,
        "preferredName": "NM_000548.5(TSC2):c.4465G>A (p.Ala1489Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/135388",
        "RCV": [
          "RCV000122237",
          "RCV000706466",
          "RCV001022523"
        ],
        "variationId": 135388
      }
    ]
  },
  "type": "amino-acid"
}