{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825815745",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 500,
          "referenceAllele": "R",
          "start": 499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NP_001129585.1:p.Arg500Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA206170",
          "hgvs": "NM_001136113.2:c.1499G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS153072"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=101358[alleleid]",
        "alleleId": 101358,
        "preferredName": "NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/95459",
        "RCV": [
          "RCV000192982",
          "RCV000443667",
          "RCV000515174",
          "RCV001166758",
          "RCV001085429",
          "RCV001252355",
          "RCV001332898"
        ],
        "variationId": 95459
      }
    ]
  },
  "type": "amino-acid"
}