{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828535737",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 304,
          "referenceAllele": "R",
          "start": 303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NP_001361618.1:p.Arg304Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA375308551",
          "hgvs": "NM_001374689.1:c.910C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS708573"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=524591[alleleid]",
        "alleleId": 524591,
        "preferredName": "NM_001077365.2(POMT1):c.927C>T (p.Asn309=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/538728",
        "RCV": [
          "RCV001166679",
          "RCV002533345"
        ],
        "variationId": 538728
      }
    ]
  },
  "type": "amino-acid"
}