{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573312278",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 78,
          "referenceAllele": "G",
          "start": 77
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "NP_877437.2:p.Gly78Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2230684",
          "hgvs": "NM_182760.4:c.233G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184629"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1499994[alleleid]",
        "alleleId": 1499994,
        "preferredName": "NM_182760.4(SUMF1):c.233G>A (p.Gly78Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1381152",
        "RCV": [
          "RCV001895222",
          "RCV002552328"
        ],
        "variationId": 1381152
      }
    ]
  },
  "type": "amino-acid"
}