{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827003433",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 1064,
          "referenceAllele": "V",
          "start": 1063
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      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
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      ],
      "matchingRegisteredTranscripts": [
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          "hgvs": "NM_001318827.2:c.3190G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA394288578",
          "hgvs": "NM_001318827.2:c.3190G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622719"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=58421[alleleid]",
        "alleleId": 58421,
        "preferredName": "NM_000548.5(TSC2):c.3430G>T (p.Val1144Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2156880[alleleid]",
        "alleleId": 2156880,
        "preferredName": "NM_000548.5(TSC2):c.3430G>C (p.Val1144Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/49259",
        "RCV": [
          "RCV000042518",
          "RCV001057920",
          "RCV001020293"
        ],
        "variationId": 49259
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2095096",
        "RCV": [
          "RCV003013714"
        ],
        "variationId": 2095096
      }
    ]
  },
  "type": "amino-acid"
}