{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826365384",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 39,
          "referenceAllele": "S",
          "start": 38
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016255",
      "geneNCBI_id": 343641,
      "geneSymbol": "TGM6",
      "hgvs": [
        "NP_001241663.1:p.Ser39Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA357983",
          "hgvs": "NM_001254734.2:c.115A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS159478"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=226978[alleleid]",
        "alleleId": 226978,
        "preferredName": "NM_198994.3(TGM6):c.115A>T (p.Ser39Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/225059",
        "RCV": [
          "RCV000210538",
          "RCV000993304",
          "RCV001137367",
          "RCV003897460"
        ],
        "variationId": 225059
      }
    ]
  },
  "type": "amino-acid"
}