{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827436754",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 401,
          "referenceAllele": "R",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "NP_001335182.1:p.Arg401Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2255316",
          "hgvs": "NM_001348253.2:c.1201C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622590"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3160676[alleleid]",
        "alleleId": 3160676,
        "preferredName": "NM_003042.4(SLC6A1):c.1735C>T (p.Arg579Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3001675",
        "RCV": [
          "RCV003862738"
        ],
        "variationId": 3001675
      }
    ]
  },
  "type": "amino-acid"
}