{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827713708",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 410,
          "referenceAllele": "W",
          "start": 409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NP_001340123.1:p.Trp410Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5293687",
          "hgvs": "NM_001353194.2:c.1229G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625744"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=458960[alleleid]",
        "alleleId": 458960,
        "preferredName": "NM_001077365.2(POMT1):c.1391G>C (p.Trp464Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/471375",
        "RCV": [
          "RCV000558807",
          "RCV003459248"
        ],
        "variationId": 471375
      }
    ]
  },
  "type": "amino-acid"
}