{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826000264",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 312,
          "referenceAllele": "V",
          "start": 311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "NP_001158147.1:p.Val312Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA351631168",
          "hgvs": "NM_001164675.2:c.935T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS155084"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1351508[alleleid]",
        "alleleId": 1351508,
        "preferredName": "NM_182760.4(SUMF1):c.935T>C (p.Val312Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1450987",
        "RCV": [
          "RCV001993042"
        ],
        "variationId": 1450987
      }
    ]
  },
  "type": "amino-acid"
}