{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827004936",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 1492,
          "referenceAllele": "G",
          "start": 1491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NP_001305756.1:p.Gly1492Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA021000",
          "hgvs": "NM_001318827.2:c.4474G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA394307955",
          "hgvs": "NM_001318827.2:c.4474G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622719"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=58626[alleleid]",
        "alleleId": 58626,
        "preferredName": "NM_000548.5(TSC2):c.4783G>A (p.Gly1595Arg)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2886446[alleleid]",
        "alleleId": 2886446,
        "preferredName": "NM_000548.5(TSC2):c.4783G>C (p.Gly1595Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/49464",
        "RCV": [
          "RCV000042724",
          "RCV001508405",
          "RCV001852888",
          "RCV003162357"
        ],
        "variationId": 49464
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2728549",
        "RCV": [
          "RCV003513445"
        ],
        "variationId": 2728549
      }
    ]
  },
  "type": "amino-acid"
}