{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825999813",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 254,
          "referenceAllele": "A",
          "start": 253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "NP_001158146.1:p.Ala254Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA115674",
          "hgvs": "NM_001164674.2:c.761C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS155083"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17708[alleleid]",
        "alleleId": 17708,
        "preferredName": "NM_182760.4(SUMF1):c.836C>T (p.Ala279Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2669",
        "RCV": [
          "RCV000002788",
          "RCV000082716"
        ],
        "variationId": 2669
      }
    ]
  },
  "type": "amino-acid"
}