{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828095579",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 1724,
          "referenceAllele": "V",
          "start": 1723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NP_001350457.1:p.Val1724Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA022424",
          "hgvs": "NM_001363528.2:c.5170G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622664"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=50186[alleleid]",
        "alleleId": 50186,
        "preferredName": "NM_000548.5(TSC2):c.5368G>A (p.Val1790Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/41747",
        "RCV": [
          "RCV000034664",
          "RCV000567483",
          "RCV001088019",
          "RCV004534725"
        ],
        "variationId": 41747
      }
    ]
  },
  "type": "amino-acid"
}