{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA315697",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 235,
          "referenceAllele": "W",
          "start": 234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021957",
      "geneNCBI_id": 154881,
      "geneSymbol": "KCTD7",
      "hgvs": [
        "NP_694578.1:p.Trp235Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA315696",
          "hgvs": "NM_153033.5:c.704G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS182766"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=202142[alleleid]",
        "alleleId": 202142,
        "preferredName": "NM_153033.5(KCTD7):c.704G>C (p.Trp235Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/206017",
        "RCV": [
          "RCV000188025",
          "RCV001852471"
        ],
        "variationId": 206017
      }
    ]
  },
  "type": "amino-acid"
}