{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA135163",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 142,
          "referenceAllele": "P",
          "start": 141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002810",
      "geneNCBI_id": 1687,
      "geneSymbol": "GSDME",
      "hgvs": [
        "NP_004394.1:p.Pro142Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA135162",
          "hgvs": "NM_004403.3:c.424C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170107"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=54010[alleleid]",
        "alleleId": 54010,
        "preferredName": "NM_001127453.2(GSDME):c.424C>A (p.Pro142Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/44843",
        "RCV": [
          "RCV000037974",
          "RCV000279194",
          "RCV002228127"
        ],
        "variationId": 44843
      }
    ]
  },
  "type": "amino-acid"
}