{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827005071",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 1533,
          "referenceAllele": "D",
          "start": 1532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NP_001305756.1:p.Asp1533Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA021203",
          "hgvs": "NM_001318827.2:c.4597G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA3044590155",
          "hgvs": "NM_001318827.2:c.4597_4599delinsAAT"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622719"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=59042[alleleid]",
        "alleleId": 59042,
        "preferredName": "NM_000548.5(TSC2):c.4906G>A (p.Asp1636Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/49880",
        "RCV": [
          "RCV000043146",
          "RCV000189937",
          "RCV000644309",
          "RCV001023245"
        ],
        "variationId": 49880
      }
    ]
  },
  "type": "amino-acid"
}