{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825815235",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 143,
          "referenceAllele": "E",
          "start": 142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NP_001129585.1:p.Glu143Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5293260",
          "hgvs": "NM_001136113.2:c.427G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS153072"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3085668[alleleid]",
        "alleleId": 3085668,
        "preferredName": "NM_001077365.2(POMT1):c.427G>A (p.Glu143Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2923478",
        "RCV": [
          "RCV003780596"
        ],
        "variationId": 2923478
      }
    ]
  },
  "type": "amino-acid"
}