{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828091245",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 512,
          "referenceAllele": "L",
          "start": 511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NP_001350457.1:p.Leu512Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA031024",
          "hgvs": "NM_001363528.2:c.1534C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622664"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=203115[alleleid]",
        "alleleId": 203115,
        "preferredName": "NM_000548.5(TSC2):c.1534C>G (p.Leu512Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/207717",
        "RCV": [
          "RCV000189982",
          "RCV001083877",
          "RCV001012067"
        ],
        "variationId": 207717
      }
    ]
  },
  "type": "amino-acid"
}