{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828535845",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 440,
          "referenceAllele": "R",
          "start": 439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NP_001361618.1:p.Arg440Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5293658",
          "hgvs": "NM_001374689.1:c.1318C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS708573"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=524386[alleleid]",
        "alleleId": 524386,
        "preferredName": "NM_001077365.2(POMT1):c.1330C>T (p.Arg444Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/538722",
        "RCV": [
          "RCV000648158",
          "RCV000733057",
          "RCV004544878"
        ],
        "variationId": 538722
      }
    ]
  },
  "type": "amino-acid"
}