{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA658804771",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 842,
          "referenceAllele": "F",
          "start": 841
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      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
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      ],
      "matchingRegisteredTranscripts": [
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          "hgvs": "NM_000271.5:c.2524T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA401793229",
          "hgvs": "NM_000271.5:c.2526T>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA401793230",
          "hgvs": "NM_000271.5:c.2526T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146818"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=490682[alleleid]",
        "alleleId": 490682,
        "preferredName": "NM_000271.5(NPC1):c.2524T>C (p.Phe842Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1992281[alleleid]",
        "alleleId": 1992281,
        "preferredName": "NM_000271.5(NPC1):c.2526T>A (p.Phe842Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/499258",
        "RCV": [
          "RCV000596349",
          "RCV000649025",
          "RCV003952965"
        ],
        "variationId": 499258
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1932106",
        "RCV": [
          "RCV002605692"
        ],
        "variationId": 1932106
      }
    ]
  },
  "type": "amino-acid"
}