{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828416481",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 201,
          "referenceAllele": "M",
          "start": 200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NP_001357334.1:p.Met201Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA022680",
          "hgvs": "NM_001370405.1:c.603G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA394310621",
          "hgvs": "NM_001370405.1:c.603G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA394310622",
          "hgvs": "NM_001370405.1:c.603G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706301"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=59044[alleleid]",
        "alleleId": 59044,
        "preferredName": "NM_000548.5(TSC2):c.603G>C (p.Met201Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/49882",
        "RCV": [
          "RCV000043148",
          "RCV000691597",
          "RCV001024832"
        ],
        "variationId": 49882
      }
    ]
  },
  "type": "amino-acid"
}