{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA253471",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 207,
          "referenceAllele": "R",
          "start": 206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NP_598408.1:p.Arg207Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA253467",
          "hgvs": "NM_133647.2:c.619C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS181097"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20370[alleleid]",
        "alleleId": 20370,
        "preferredName": "NM_001365088.1(SLC12A6):c.619C>T (p.Arg207Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5331",
        "RCV": [
          "RCV000005657",
          "RCV000790223",
          "RCV002512812"
        ],
        "variationId": 5331
      }
    ]
  },
  "type": "amino-acid"
}