{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA319241",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 574,
          "referenceAllele": "T",
          "start": 573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NP_000359.1:p.Thr574Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA029589",
          "hgvs": "NM_000368.5:c.1721C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA375363989",
          "hgvs": "NM_000368.5:c.1720A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146912"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=202482[alleleid]",
        "alleleId": 202482,
        "preferredName": "NM_000368.5(TSC1):c.1721C>G (p.Thr574Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/207609",
        "RCV": [
          "RCV000189813",
          "RCV000574453",
          "RCV001082340"
        ],
        "variationId": 207609
      }
    ]
  },
  "type": "amino-acid"
}