{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829974330",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 607,
          "referenceAllele": "A",
          "start": 606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NP_066399.2:p.Ala607Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA015881",
          "hgvs": "NM_021055.3:c.1820C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622601"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=139111[alleleid]",
        "alleleId": 139111,
        "preferredName": "NM_000548.5(TSC2):c.1820C>T (p.Ala607Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/135372",
        "RCV": [
          "RCV000122208",
          "RCV000464888",
          "RCV000561143",
          "RCV001086928",
          "RCV003997361"
        ],
        "variationId": 135372
      }
    ]
  },
  "type": "amino-acid"
}