{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828536512",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 495,
          "referenceAllele": "Q",
          "start": 494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NP_001361619.1:p.Gln495His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA116112",
          "hgvs": "NM_001374690.1:c.1485G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA375313581",
          "hgvs": "NM_001374690.1:c.1485G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS708572"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=18285[alleleid]",
        "alleleId": 18285,
        "preferredName": "NM_001077365.2(POMT1):c.1704G>C (p.Gln568His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3246",
        "RCV": [
          "RCV000175324",
          "RCV002286391",
          "RCV003764522",
          "RCV003323349"
        ],
        "variationId": 3246
      }
    ]
  },
  "type": "amino-acid"
}