{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827651195",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 114,
          "referenceAllele": "V",
          "start": 113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018243",
      "geneNCBI_id": 55213,
      "geneSymbol": "RCBTB1",
      "hgvs": [
        "NP_001339435.1:p.Val114Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6982736",
          "hgvs": "NM_001352506.2:c.340G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS647011"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=247428[alleleid]",
        "alleleId": 247428,
        "preferredName": "NM_018191.4(RCBTB1):c.919G>A (p.Val307Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/253016",
        "RCV": [
          "RCV000239609",
          "RCV000258120"
        ],
        "variationId": 253016
      }
    ]
  },
  "type": "amino-acid"
}