{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827020828",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 1657,
          "referenceAllele": "R",
          "start": 1656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NP_001305761.1:p.Arg1657His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA021840",
          "hgvs": "NM_001318832.2:c.4970G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622621"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=59092[alleleid]",
        "alleleId": 59092,
        "preferredName": "NM_000548.5(TSC2):c.5138G>A (p.Arg1713His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/49930",
        "RCV": [
          "RCV000043197",
          "RCV000129852",
          "RCV000254730",
          "RCV000459221",
          "RCV000763367"
        ],
        "variationId": 49930
      }
    ]
  },
  "type": "amino-acid"
}