{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828536196",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 105,
          "referenceAllele": "R",
          "start": 104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NP_001361619.1:p.Arg105Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA375306235",
          "hgvs": "NM_001374690.1:c.313C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS708572"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1475908[alleleid]",
        "alleleId": 1475908,
        "preferredName": "NM_001077365.2(POMT1):c.313C>T (p.Arg105Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1497287",
        "RCV": [
          "RCV002019789",
          "RCV003464372"
        ],
        "variationId": 1497287
      }
    ]
  },
  "type": "amino-acid"
}