{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA107341",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 479,
          "referenceAllele": "I",
          "start": 478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006412",
      "geneNCBI_id": 3848,
      "geneSymbol": "KRT1",
      "hgvs": [
        "NP_006112.3:p.Ile479Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA126046",
          "hgvs": "NM_006121.4:c.1436T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171693"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=30950[alleleid]",
        "alleleId": 30950,
        "preferredName": "NM_006121.4(KRT1):c.1436T>C (p.Ile479Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/15911",
        "RCV": [
          "RCV000017262",
          "RCV000057063",
          "RCV002463993"
        ],
        "variationId": 15911
      }
    ]
  },
  "type": "amino-acid"
}