{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA112169",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 129,
          "referenceAllele": "M",
          "start": 128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006414",
      "geneNCBI_id": 3859,
      "geneSymbol": "KRT12",
      "hgvs": [
        "NP_000214.1:p.Met129Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA119163",
          "hgvs": "NM_000223.4:c.386T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146772"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22966[alleleid]",
        "alleleId": 22966,
        "preferredName": "NM_000223.4(KRT12):c.386T>C (p.Met129Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7927",
        "RCV": [
          "RCV000008389",
          "RCV000056417"
        ],
        "variationId": 7927
      }
    ]
  },
  "type": "amino-acid"
}