{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830462138",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 241,
          "referenceAllele": "R",
          "start": 240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018249",
      "geneNCBI_id": 284252,
      "geneSymbol": "KCTD1",
      "hgvs": [
        "NP_945342.1:p.Arg241Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8922204",
          "hgvs": "NM_198991.4:c.721C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS185313"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3129963[alleleid]",
        "alleleId": 3129963,
        "preferredName": "NM_001142730.3(KCTD1):c.2545C>T (p.Arg849Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2973468",
        "RCV": [
          "RCV003830562"
        ],
        "variationId": 2973468
      }
    ]
  },
  "type": "amino-acid"
}