{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573075788",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 1938,
          "referenceAllele": "C",
          "start": 1937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054857",
      "geneNCBI_id": 116804918,
      "geneSymbol": "TBCEL-TECTA",
      "hgvs": [
        "NP_001365690.1:p.Cys1938Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA254068",
          "hgvs": "NM_001378761.1:c.5813G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA383029219",
          "hgvs": "NM_001378761.1:c.5812T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS736774"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22056[alleleid]",
        "alleleId": 22056,
        "preferredName": "NM_005422.4(TECTA):c.4856G>C (p.Cys1619Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7017",
        "RCV": [
          "RCV000007432"
        ],
        "variationId": 7017
      }
    ]
  },
  "type": "amino-acid"
}