{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916022880",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 992,
          "referenceAllele": "D",
          "start": 991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NP_001305758.1:p.Asp992Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA018744",
          "hgvs": "NM_001318829.2:c.2976C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA394286142",
          "hgvs": "NM_001318829.2:c.2976C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622695"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=58410[alleleid]",
        "alleleId": 58410,
        "preferredName": "NM_000548.5(TSC2):c.3252C>G (p.Asp1084Glu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1459542[alleleid]",
        "alleleId": 1459542,
        "preferredName": "NM_000548.5(TSC2):c.3252C>A (p.Asp1084Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/49248",
        "RCV": [
          "RCV000042507",
          "RCV000229678",
          "RCV003343620"
        ],
        "variationId": 49248
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1348312",
        "RCV": [
          "RCV002044253"
        ],
        "variationId": 1348312
      }
    ]
  },
  "type": "amino-acid"
}