{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828536330",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 283,
          "referenceAllele": "S",
          "start": 282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NP_001361619.1:p.Ser283Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5293451",
          "hgvs": "NM_001374690.1:c.847A>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA375307957",
          "hgvs": "NM_001374690.1:c.849C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA375307958",
          "hgvs": "NM_001374690.1:c.849C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS708572"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=271145[alleleid]",
        "alleleId": 271145,
        "preferredName": "NM_001077365.2(POMT1):c.847A>C (p.Ser283Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/286908",
        "RCV": [
          "RCV000712829",
          "RCV000764805",
          "RCV001041917",
          "RCV003454804",
          "RCV004021212"
        ],
        "variationId": 286908
      }
    ]
  },
  "type": "amino-acid"
}