{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829982769",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 1630,
          "referenceAllele": "V",
          "start": 1629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NP_066399.2:p.Val1630Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA021508",
          "hgvs": "NM_021055.3:c.4888G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622601"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=76084[alleleid]",
        "alleleId": 76084,
        "preferredName": "NM_000548.5(TSC2):c.5017G>T (p.Val1673Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/65153",
        "RCV": [
          "RCV000055369",
          "RCV002336203",
          "RCV001342211"
        ],
        "variationId": 65153
      }
    ]
  },
  "type": "amino-acid"
}