{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828538213",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 48,
          "referenceAllele": "A",
          "start": 47
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NP_001361624.1:p.Ala48Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA203493",
          "hgvs": "NM_001374695.1:c.142G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS708574"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=18282[alleleid]",
        "alleleId": 18282,
        "preferredName": "NM_001077365.2(POMT1):c.598G>C (p.Ala200Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3243",
        "RCV": [
          "RCV000003399",
          "RCV000179928",
          "RCV001264826",
          "RCV001385876",
          "RCV001813942",
          "RCV003234890",
          "RCV003472966"
        ],
        "variationId": 3243
      }
    ]
  },
  "type": "amino-acid"
}