{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499234146",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 479,
          "referenceAllele": "R",
          "start": 478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002605",
      "geneNCBI_id": 1593,
      "geneSymbol": "CYP27A1",
      "hgvs": [
        "NP_000775.1:p.Arg479Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2112894",
          "hgvs": "NM_000784.4:c.1435C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2499215672",
          "hgvs": "NM_000784.4:c.1434_1435delinsAA"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147289"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1059186[alleleid]",
        "alleleId": 1059186,
        "preferredName": "NM_000784.4(CYP27A1):c.1434_1435delinsAA (p.Arg479Ser)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1481429[alleleid]",
        "alleleId": 1481429,
        "preferredName": "NM_000784.4(CYP27A1):c.1435C>A (p.Arg479Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1069502",
        "RCV": [
          "RCV001381385"
        ],
        "variationId": 1069502
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1460072",
        "RCV": [
          "RCV001951410"
        ],
        "variationId": 1460072
      }
    ]
  },
  "type": "amino-acid"
}