{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826979222",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 295,
          "referenceAllele": "R",
          "start": 294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NP_001305017.1:p.Arg295His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA274179",
          "hgvs": "NM_001318088.2:c.884G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS657513"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=186828[alleleid]",
        "alleleId": 186828,
        "preferredName": "NM_000543.5(SMPD1):c.1805G>A (p.Arg602His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/188955",
        "RCV": [
          "RCV000169329",
          "RCV001208506",
          "RCV001781526",
          "RCV001248877"
        ],
        "variationId": 188955
      }
    ]
  },
  "type": "amino-acid"
}