{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825439357",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1624,
          "referenceAllele": "M",
          "start": 1623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NP_001070651.1:p.Met1624Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA021670",
          "hgvs": "NM_001077183.3:c.4871T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150406"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=76077[alleleid]",
        "alleleId": 76077,
        "preferredName": "NM_000548.5(TSC2):c.5072T>C (p.Met1691Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/65146",
        "RCV": [
          "RCV000055361",
          "RCV000644174",
          "RCV002336202",
          "RCV003996478",
          "RCV004537241"
        ],
        "variationId": 65146
      }
    ]
  },
  "type": "amino-acid"
}