{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828410454",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 237,
          "referenceAllele": "P",
          "start": 236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NP_001357333.1:p.Pro237Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA056182",
          "hgvs": "NM_001370404.1:c.710C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706316"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=203096[alleleid]",
        "alleleId": 203096,
        "preferredName": "NM_000548.5(TSC2):c.710C>T (p.Pro237Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/207769",
        "RCV": [
          "RCV000190052",
          "RCV000227699",
          "RCV001026051",
          "RCV004537600"
        ],
        "variationId": 207769
      }
    ]
  },
  "type": "amino-acid"
}