{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828417385",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 478,
          "referenceAllele": "Q",
          "start": 477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NP_001357334.1:p.Gln478Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA394324088",
          "hgvs": "NM_001370405.1:c.1432C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706301"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=812509[alleleid]",
        "alleleId": 812509,
        "preferredName": "NM_000548.5(TSC2):c.1432C>G (p.Gln478Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/819200",
        "RCV": [
          "RCV001011553"
        ],
        "variationId": 819200
      }
    ]
  },
  "type": "amino-acid"
}