{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827000690",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 245,
          "referenceAllele": "D",
          "start": 244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NP_001305756.1:p.Asp245Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA023019",
          "hgvs": "NM_001318827.2:c.735C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA394313575",
          "hgvs": "NM_001318827.2:c.735C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622719"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=139118[alleleid]",
        "alleleId": 139118,
        "preferredName": "NM_000548.5(TSC2):c.846C>A (p.Asp282Glu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2855121[alleleid]",
        "alleleId": 2855121,
        "preferredName": "NM_000548.5(TSC2):c.846C>G (p.Asp282Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/135379",
        "RCV": [
          "RCV000122220",
          "RCV000550508",
          "RCV001017849",
          "RCV003997364"
        ],
        "variationId": 135379
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2698830",
        "RCV": [
          "RCV003512381"
        ],
        "variationId": 2698830
      }
    ]
  },
  "type": "amino-acid"
}