{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA234972",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 498,
          "referenceAllele": "R",
          "start": 497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NP_000534.3:p.Arg498His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA234971",
          "hgvs": "NM_000543.5:c.1493G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147078"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=177005[alleleid]",
        "alleleId": 177005,
        "preferredName": "NM_000543.5(SMPD1):c.1493G>A (p.Arg498His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/167712",
        "RCV": [
          "RCV000179324",
          "RCV000806406",
          "RCV001527430",
          "RCV001248980",
          "RCV001814072"
        ],
        "variationId": 167712
      }
    ]
  },
  "type": "amino-acid"
}