{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825958001",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 1057,
          "referenceAllele": "G",
          "start": 1056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NP_001155899.1:p.Gly1057Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA007317",
          "hgvs": "NM_001162427.2:c.3169G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS154784"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=58185[alleleid]",
        "alleleId": 58185,
        "preferredName": "NM_000368.5(TSC1):c.3322G>A (p.Gly1108Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/49023",
        "RCV": [
          "RCV000042274",
          "RCV000189829",
          "RCV000642032",
          "RCV001019989",
          "RCV004546423"
        ],
        "variationId": 49023
      }
    ]
  },
  "type": "amino-acid"
}