{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829977276",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 889,
          "referenceAllele": "A",
          "start": 888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NP_066399.2:p.Ala889Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA017841",
          "hgvs": "NM_021055.3:c.2666C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622601"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=58748[alleleid]",
        "alleleId": 58748,
        "preferredName": "NM_000548.5(TSC2):c.2666C>T (p.Ala889Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/49586",
        "RCV": [
          "RCV000042847",
          "RCV000201152",
          "RCV002433527"
        ],
        "variationId": 49586
      }
    ]
  },
  "type": "amino-acid"
}