{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA262717",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 1503,
          "referenceAllele": "Q",
          "start": 1502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NP_000539.2:p.Gln1503His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA020576",
          "hgvs": "NM_000548.5:c.4509G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA394302743",
          "hgvs": "NM_000548.5:c.4509G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147083"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=58660[alleleid]",
        "alleleId": 58660,
        "preferredName": "NM_000548.5(TSC2):c.4509G>T (p.Gln1503His)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1396534[alleleid]",
        "alleleId": 1396534,
        "preferredName": "NM_000548.5(TSC2):c.4509G>C (p.Gln1503His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/49498",
        "RCV": [
          "RCV000042758",
          "RCV002250506"
        ],
        "variationId": 49498
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1390361",
        "RCV": [
          "RCV001889529"
        ],
        "variationId": 1390361
      }
    ]
  },
  "type": "amino-acid"
}