{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA266817",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 253,
          "referenceAllele": "D",
          "start": 252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NP_000534.3:p.Asp253His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA266816",
          "hgvs": "NM_000543.5:c.757G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147078"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=99227[alleleid]",
        "alleleId": 99227,
        "preferredName": "NM_000543.5(SMPD1):c.757G>C (p.Asp253His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/93320",
        "RCV": [
          "RCV000175626",
          "RCV000414126",
          "RCV000821795",
          "RCV000984226",
          "RCV001248868"
        ],
        "variationId": 93320
      }
    ]
  },
  "type": "amino-acid"
}