{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828537928",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 336,
          "referenceAllele": "V",
          "start": 335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NP_001361622.1:p.Val336Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA200794964",
          "hgvs": "NM_001374693.1:c.1006G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS708570"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=901199[alleleid]",
        "alleleId": 901199,
        "preferredName": "NM_001077365.2(POMT1):c.1357G>A (p.Val453Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/912851",
        "RCV": [
          "RCV001166234",
          "RCV001371364",
          "RCV002254953"
        ],
        "variationId": 912851
      }
    ]
  },
  "type": "amino-acid"
}