{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827013702",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 626,
          "referenceAllele": "L",
          "start": 625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NP_001305760.1:p.Leu626Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA017492",
          "hgvs": "NM_001318831.2:c.1876C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622649"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=50171[alleleid]",
        "alleleId": 50171,
        "preferredName": "NM_000548.5(TSC2):c.2476C>A (p.Leu826Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/41732",
        "RCV": [
          "RCV000034649",
          "RCV000054857",
          "RCV000163390",
          "RCV000176271",
          "RCV000989426"
        ],
        "variationId": 41732
      }
    ]
  },
  "type": "amino-acid"
}