{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828537870",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 272,
          "referenceAllele": "Y",
          "start": 271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NP_001361622.1:p.Tyr272Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA222987",
          "hgvs": "NM_001374693.1:c.815A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS708570"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=101349[alleleid]",
        "alleleId": 101349,
        "preferredName": "NM_001077365.2(POMT1):c.977A>G (p.Tyr326Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/95450",
        "RCV": [
          "RCV000081475"
        ],
        "variationId": 95450
      }
    ]
  },
  "type": "amino-acid"
}