{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826978787",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 304,
          "referenceAllele": "L",
          "start": 303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NP_001305016.1:p.Leu304Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA221154",
          "hgvs": "NM_001318087.2:c.911T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS640175"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=18028[alleleid]",
        "alleleId": 18028,
        "preferredName": "NM_000543.5(SMPD1):c.911T>C (p.Leu304Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2989",
        "RCV": [
          "RCV000003123",
          "RCV000175622",
          "RCV000192222",
          "RCV000984009",
          "RCV001380607"
        ],
        "variationId": 2989
      }
    ]
  },
  "type": "amino-acid"
}