{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA915986649",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 116,
          "referenceAllele": "L",
          "start": 115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NP_001155898.1:p.Leu116Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA007386",
          "hgvs": "NM_001162426.2:c.346T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS154783"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=75743[alleleid]",
        "alleleId": 75743,
        "preferredName": "NM_000368.5(TSC1):c.346T>G (p.Leu116Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/64814",
        "RCV": [
          "RCV000055005",
          "RCV000055027",
          "RCV000122184",
          "RCV000163292",
          "RCV000372436",
          "RCV000725839",
          "RCV001080106",
          "RCV003934997"
        ],
        "variationId": 64814
      }
    ]
  },
  "type": "amino-acid"
}