{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825956616",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 590,
          "referenceAllele": "P",
          "start": 589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NP_001155899.1:p.Pro590His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA005606",
          "hgvs": "NM_001162427.2:c.1769C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS154784"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=75744[alleleid]",
        "alleleId": 75744,
        "preferredName": "NM_000368.5(TSC1):c.1922C>A (p.Pro641His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/64815",
        "RCV": [
          "RCV000055006",
          "RCV001013706",
          "RCV000555785"
        ],
        "variationId": 64815
      }
    ]
  },
  "type": "amino-acid"
}