{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA113370",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 348,
          "referenceAllele": "G",
          "start": 347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011571",
      "geneNCBI_id": 23435,
      "geneSymbol": "TARDBP",
      "hgvs": [
        "NP_031401.1:p.Gly348Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA340379",
          "hgvs": "NM_007375.4:c.1042G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172806"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20273[alleleid]",
        "alleleId": 20273,
        "preferredName": "NM_007375.4(TARDBP):c.1042G>T (p.Gly348Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5234",
        "RCV": [
          "RCV000005545",
          "RCV000516886",
          "RCV001851671"
        ],
        "variationId": 5234
      }
    ]
  },
  "type": "amino-acid"
}