{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826093600",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 749,
          "referenceAllele": "R",
          "start": 748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "NP_001166969.1:p.Arg749Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA339901",
          "hgvs": "NM_001173498.2:c.2245C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS156072"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=16726[alleleid]",
        "alleleId": 16726,
        "preferredName": "NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1687",
        "RCV": [
          "RCV000001755",
          "RCV000622985",
          "RCV001091771"
        ],
        "variationId": 1687
      }
    ]
  },
  "type": "amino-acid"
}