{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA248450",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Y",
          "end": 49,
          "referenceAllele": "C",
          "start": 48
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027960",
      "geneNCBI_id": 340024,
      "geneSymbol": "SLC6A19",
      "hgvs": [
        "NP_001003841.1:p.Cys49Tyr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA248449",
          "hgvs": "NM_001003841.3:c.146G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147861"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=204445[alleleid]",
        "alleleId": 204445,
        "preferredName": "NM_001003841.3(SLC6A19):c.146G>A (p.Cys49Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/208186",
        "RCV": [
          "RCV000190382"
        ],
        "variationId": 208186
      }
    ]
  },
  "type": "amino-acid"
}