{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA207428",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 86,
          "referenceAllele": "K",
          "start": 85
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029521",
      "geneNCBI_id": 113246,
      "geneSymbol": "C12orf57",
      "hgvs": [
        "NP_612434.1:p.Lys86Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA207427",
          "hgvs": "NM_138425.4:c.257A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS181238"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=207996[alleleid]",
        "alleleId": 207996,
        "preferredName": "NM_138425.4(C12orf57):c.257A>G (p.Lys86Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/210548",
        "RCV": [
          "RCV000193738",
          "RCV000532469"
        ],
        "variationId": 210548
      }
    ]
  },
  "type": "amino-acid"
}