{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580142578",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 428,
          "referenceAllele": "G",
          "start": 427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010808",
      "geneNCBI_id": 8910,
      "geneSymbol": "SGCE",
      "hgvs": [
        "NP_001092871.1:p.Gly428Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA162919570",
          "hgvs": "NM_001099401.2:c.1282G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA368228719",
          "hgvs": "NM_001099401.2:c.1282G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS151212"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1690792[alleleid]",
        "alleleId": 1690792,
        "preferredName": "NM_003919.3(SGCE):c.1253+799G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1698413",
        "RCV": [
          "RCV002295365",
          "RCV003926359"
        ],
        "variationId": 1698413
      }
    ]
  },
  "type": "amino-acid"
}