{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573171137",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 750,
          "referenceAllele": "R",
          "start": 749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "NP_000519.2:p.Arg750Gly"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA404242568",
          "hgvs": "NM_000528.4:c.2248C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147063"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1395423[alleleid]",
        "alleleId": 1395423,
        "preferredName": "NM_000528.4(MAN2B1):c.2248C>G (p.Arg750Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1498522",
        "RCV": [
          "RCV001999253"
        ],
        "variationId": 1498522
      }
    ]
  },
  "type": "amino-acid"
}