{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828090182",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 187,
          "referenceAllele": "N",
          "start": 186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NP_001350457.1:p.Asn187Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA022534",
          "hgvs": "NM_001363528.2:c.560A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622664"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=184112[alleleid]",
        "alleleId": 184112,
        "preferredName": "NM_000548.5(TSC2):c.560A>G (p.Asn187Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/184186",
        "RCV": [
          "RCV000163373",
          "RCV000190050",
          "RCV000765260",
          "RCV001086110",
          "RCV003995252"
        ],
        "variationId": 184186
      }
    ]
  },
  "type": "amino-acid"
}