{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645482297",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "CNLTS",
          "end": 173,
          "referenceAllele": "",
          "start": 173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004136",
      "geneNCBI_id": 2593,
      "geneSymbol": "GAMT",
      "hgvs": [
        "NP_000147.1:p.Cys169_Ser173dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146706"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=426289[alleleid]",
        "alleleId": 426289,
        "preferredName": "NM_000156.6(GAMT):c.507_521dup (p.Cys169_Ser173dup)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/431959",
        "RCV": [
          "RCV000497566",
          "RCV000695868",
          "RCV002305494",
          "RCV002318603"
        ],
        "variationId": 431959
      }
    ]
  },
  "type": "amino-acid"
}