{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827717111",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 374,
          "referenceAllele": "E",
          "start": 373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NP_001340129.1:p.Glu374Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA375312967",
          "hgvs": "NM_001353200.2:c.1120G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625738"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1028936[alleleid]",
        "alleleId": 1028936,
        "preferredName": "NM_001077365.2(POMT1):c.1576G>A (p.Glu526Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1046331",
        "RCV": [
          "RCV001350879",
          "RCV001773704"
        ],
        "variationId": 1046331
      }
    ]
  },
  "type": "amino-acid"
}