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        "hgvsWellDefined": "NP_001371087.1:p.Glu432_Phe489delinsPheTyrMetArgGlnThrGlyProIleSerAlaThrLeuValMetThrArgProIleLysGlyProArgGluIleGlnLeuAspLeuGluMetIleThrValAsnThrValIleAsnPheArgGlySerSerValIleArgLeuArgIleTyrValSerGlnTyrProPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722672"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828938094",
      "coordinates": [
        {
          "allele": "T",
          "end": 1476,
          "referenceAllele": "G",
          "start": 1475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003602",
      "geneNCBI_id": 10516,
      "geneSymbol": "FBLN5",
      "hgvs": [
        "NM_001384159.1:c.1222G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001371088.1:p.Glu408Ter",
        "hgvsWellDefined": "NP_001371088.1:p.Glu408_Phe465delinsPheTyrMetArgGlnThrGlyProIleSerAlaThrLeuValMetThrArgProIleLysGlyProArgGluIleGlnLeuAspLeuGluMetIleThrValAsnThrValIleAsnPheArgGlySerSerValIleArgLeuArgIleTyrValSerGlnTyrProPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722673"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828938425",
      "coordinates": [
        {
          "allele": "T",
          "end": 1636,
          "referenceAllele": "G",
          "start": 1635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003602",
      "geneNCBI_id": 10516,
      "geneSymbol": "FBLN5",
      "hgvs": [
        "NM_001384160.1:c.1171G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001371089.1:p.Glu391Ter",
        "hgvsWellDefined": "NP_001371089.1:p.Glu391_Trp464delinsPheTyrMetArgArgAlaPheSerThrThrAlaTyrGluAlaSerSerGlnAlaLeuSerValGluLysGlnThrGlyCysGlyLeuCysProGlyGlyThrHisThrHisLeuSerGlyGluGlyGluAsnAsnLeuAlaAsnThrThrGlnSerGlyAspSerGlnValLysSerArgProMetGlyCysLysArgAlaProSerValProProTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722674"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828938672",
      "coordinates": [
        {
          "allele": "T",
          "end": 1737,
          "referenceAllele": "G",
          "start": 1736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003602",
      "geneNCBI_id": 10516,
      "geneSymbol": "FBLN5",
      "hgvs": [
        "NM_001384161.1:c.1003G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001371090.1:p.Glu335Ter",
        "hgvsWellDefined": "NP_001371090.1:p.Glu335_Trp408delinsPheTyrMetArgArgAlaPheSerThrThrAlaTyrGluAlaSerSerGlnAlaLeuSerValGluLysGlnThrGlyCysGlyLeuCysProGlyGlyThrHisThrHisLeuSerGlyGluGlyGluAsnAsnLeuAlaAsnThrThrGlnSerGlyAspSerGlnValLysSerArgProMetGlyCysLysArgAlaProSerValProProTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722675"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828938899",
      "coordinates": [
        {
          "allele": "T",
          "end": 1737,
          "referenceAllele": "G",
          "start": 1736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003602",
      "geneNCBI_id": 10516,
      "geneSymbol": "FBLN5",
      "hgvs": [
        "NM_001384162.1:c.1003G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001371091.1:p.Glu335Ter",
        "hgvsWellDefined": "NP_001371091.1:p.Glu335_Phe392delinsPheTyrMetArgGlnThrGlyProIleSerAlaThrLeuValMetThrArgProIleLysGlyProArgGluIleGlnLeuAspLeuGluMetIleThrValAsnThrValIleAsnPheArgGlySerSerValIleArgLeuArgIleTyrValSerGlnTyrProPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722676"
    },
    {
      "@id": "http://reg.genome.network/allele/PA342097",
      "coordinates": [
        {
          "allele": "T",
          "end": 1636,
          "referenceAllele": "G",
          "start": 1635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003602",
      "geneNCBI_id": 10516,
      "geneSymbol": "FBLN5",
      "hgvs": [
        "NM_006329.4:c.1171G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006320.2:p.Glu391Ter",
        "hgvsWellDefined": "NP_006320.2:p.Glu391_Phe448delinsPheTyrMetArgGlnThrGlyProIleSerAlaThrLeuValMetThrArgProIleLysGlyProArgGluIleGlnLeuAspLeuGluMetIleThrValAsnThrValIleAsnPheArgGlySerSerValIleArgLeuArgIleTyrValSerGlnTyrProPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727720",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000342058.9:c.1171G>T"
          },
          "RefSeq": {
            "hgvs": "NM_006329.4:c.1171G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000345008.4:p.Glu391Ter"
          },
          "RefSeq": {
            "hgvs": "NP_006320.2:p.Glu391Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}