{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA104244",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 121,
          "referenceAllele": "M",
          "start": 120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006423",
      "geneNCBI_id": 3868,
      "geneSymbol": "KRT16",
      "hgvs": [
        "NP_005548.2:p.Met121Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA217377",
          "hgvs": "NM_005557.4:c.362T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171183"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=29647[alleleid]",
        "alleleId": 29647,
        "preferredName": "NM_005557.4(KRT16):c.362T>C (p.Met121Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/14608",
        "RCV": [
          "RCV000015712",
          "RCV000057030",
          "RCV002496376"
        ],
        "variationId": 14608
      }
    ]
  },
  "type": "amino-acid"
}