{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916022258",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 505,
          "referenceAllele": "V",
          "start": 504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NP_001305016.1:p.Val505Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA252505",
          "hgvs": "NM_001318087.2:c.1513G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA379375760",
          "hgvs": "NM_001318087.2:c.1513G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS640175"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=18019[alleleid]",
        "alleleId": 18019,
        "preferredName": "NM_000543.5(SMPD1):c.1493G>T (p.Arg498Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1352357[alleleid]",
        "alleleId": 1352357,
        "preferredName": "NM_000543.5(SMPD1):c.1493G>C (p.Arg498Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2980",
        "RCV": [
          "RCV000003114",
          "RCV000192227",
          "RCV000413382",
          "RCV000526587",
          "RCV000984008",
          "RCV004018542"
        ],
        "variationId": 2980
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1507898",
        "RCV": [
          "RCV002013686"
        ],
        "variationId": 1507898
      }
    ]
  },
  "type": "amino-acid"
}