{
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  "@id": "http://reg.genome.network/allele/PA645491928",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 141,
          "referenceAllele": "L",
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      "gene": "http://reg.genome.network/gene/GN029090",
      "geneNCBI_id": 23347,
      "geneSymbol": "SMCHD1",
      "hgvs": [
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      ],
      "matchingRegisteredTranscripts": [
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          "hgvs": "NM_015295.3:c.423G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA401688335",
          "hgvs": "NM_015295.3:c.423G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS174438"
    }
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=362643[alleleid]",
        "alleleId": 362643,
        "preferredName": "NM_015295.3(SMCHD1):c.423G>C (p.Leu141Phe)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=424977[alleleid]",
        "alleleId": 424977,
        "preferredName": "NM_015295.3(SMCHD1):c.423G>T (p.Leu141Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/375762",
        "RCV": [
          "RCV000417278"
        ],
        "variationId": 375762
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/431464",
        "RCV": [
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        ],
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      }
    ]
  },
  "type": "amino-acid"
}