{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825955435",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 263,
          "referenceAllele": "T",
          "start": 262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NP_001155899.1:p.Thr263Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA008439",
          "hgvs": "NM_001162427.2:c.788C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS154784"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=151694[alleleid]",
        "alleleId": 151694,
        "preferredName": "NM_000368.5(TSC1):c.941C>T (p.Thr314Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/141980",
        "RCV": [
          "RCV000130736",
          "RCV000726223",
          "RCV000764813",
          "RCV001084392",
          "RCV003998074"
        ],
        "variationId": 141980
      }
    ]
  },
  "type": "amino-acid"
}