{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA262368",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 190,
          "referenceAllele": "R",
          "start": 189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NP_000359.1:p.Arg190Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA007774",
          "hgvs": "NM_000368.5:c.569G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2573144299",
          "hgvs": "NM_000368.5:c.569_570delinsCT"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146912"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=58220[alleleid]",
        "alleleId": 58220,
        "preferredName": "NM_000368.5(TSC1):c.569G>C (p.Arg190Pro)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1671861[alleleid]",
        "alleleId": 1671861,
        "preferredName": "NM_000368.5(TSC1):c.569_570delinsCT (p.Arg190Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/49058",
        "RCV": [
          "RCV000042311",
          "RCV000442086"
        ],
        "variationId": 49058
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1679947",
        "RCV": [
          "RCV002236392"
        ],
        "variationId": 1679947
      }
    ]
  },
  "type": "amino-acid"
}