{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827012972",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 428,
          "referenceAllele": "R",
          "start": 427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NP_001305760.1:p.Arg428His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA016151",
          "hgvs": "NM_001318831.2:c.1283G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622649"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=184126[alleleid]",
        "alleleId": 184126,
        "preferredName": "NM_000548.5(TSC2):c.1883G>A (p.Arg628His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/186281",
        "RCV": [
          "RCV000165847",
          "RCV000531841",
          "RCV001548583",
          "RCV003995458"
        ],
        "variationId": 186281
      }
    ]
  },
  "type": "amino-acid"
}