{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827715928",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 344,
          "referenceAllele": "G",
          "start": 343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NP_001340127.2:p.Gly344Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5293544",
          "hgvs": "NM_001353198.2:c.1030G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA375309062",
          "hgvs": "NM_001353198.2:c.1030G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS708567"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=269292[alleleid]",
        "alleleId": 269292,
        "preferredName": "NM_001077365.2(POMT1):c.1126G>A (p.Gly376Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/285055",
        "RCV": [
          "RCV000338793",
          "RCV000376051",
          "RCV000530614",
          "RCV004535339"
        ],
        "variationId": 285055
      }
    ]
  },
  "type": "amino-acid"
}