{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916043405",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 247,
          "referenceAllele": "S",
          "start": 246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001786",
      "geneNCBI_id": 1028,
      "geneSymbol": "CDKN1C",
      "hgvs": [
        "NP_001349403.1:p.Ser247Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16613538",
          "hgvs": "NM_001362474.2:c.740C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS660323"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=398536[alleleid]",
        "alleleId": 398536,
        "preferredName": "NM_001122630.2(CDKN1C):c.707C>T (p.Ser236Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/404242",
        "RCV": [
          "RCV000476304"
        ],
        "variationId": 404242
      }
    ]
  },
  "type": "amino-acid"
}