{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827007527",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 621,
          "referenceAllele": "P",
          "start": 620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NP_001305758.1:p.Pro621Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA016425",
          "hgvs": "NM_001318829.2:c.1862C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622695"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=76317[alleleid]",
        "alleleId": 76317,
        "preferredName": "NM_000548.5(TSC2):c.2009C>T (p.Pro670Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/65383",
        "RCV": [
          "RCV000055611",
          "RCV000189898",
          "RCV000204401",
          "RCV000567608",
          "RCV004542724"
        ],
        "variationId": 65383
      }
    ]
  },
  "type": "amino-acid"
}