{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829991050",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 343,
          "referenceAllele": "V",
          "start": 342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022932",
      "geneNCBI_id": 29925,
      "geneSymbol": "GMPPB",
      "hgvs": [
        "NP_068806.2:p.Val343Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA352826044",
          "hgvs": "NM_021971.4:c.1027G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS708562"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1974995[alleleid]",
        "alleleId": 1974995,
        "preferredName": "NM_021971.4(GMPPB):c.1027G>A (p.Val343Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1918668",
        "RCV": [
          "RCV002602090"
        ],
        "variationId": 1918668
      }
    ]
  },
  "type": "amino-acid"
}