{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825435320",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 428,
          "referenceAllele": "S",
          "start": 427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NP_001070651.1:p.Ser428del"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA014351",
          "hgvs": "NM_001077183.3:c.1283_1285del"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150406"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=58806[alleleid]",
        "alleleId": 58806,
        "preferredName": "NM_000548.5(TSC2):c.1283_1285del (p.Ser428del)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/49644",
        "RCV": [
          "RCV000042906",
          "RCV000190056",
          "RCV000475301",
          "RCV004537172"
        ],
        "variationId": 49644
      }
    ]
  },
  "type": "amino-acid"
}