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        "hgvsWellDefined": "NP_001361290.1:p.Arg400_Asn523delinsAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspValProLeuAsnAspMetPheGlyTyrSerThrGluLeuArgSerCysThrGluGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693248"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830048703",
      "coordinates": [
        {
          "allele": "T",
          "end": 1990,
          "referenceAllele": "C",
          "start": 1989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NM_024996.7:c.1882C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_079272.4:p.Arg628Ter",
        "hgvsWellDefined": "NP_079272.4:p.Arg628_Asn751delinsAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspValProLeuAsnAspMetPheGlyTyrSerThrGluLeuArgSerCysThrGluGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698799",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000486715.6:c.1882C>T"
          },
          "RefSeq": {
            "hgvs": "NM_024996.7:c.1882C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000419038.1:p.Arg628Ter"
          },
          "RefSeq": {
            "hgvs": "NP_079272.4:p.Arg628Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1905,
          "referenceAllele": "C",
          "start": 1904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NR_164499.1:n.1905C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705743"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1872,
          "endIntronDirection": "+",
          "endIntronOffset": 2484,
          "referenceAllele": "C",
          "start": 1872,
          "startIntronDirection": "+",
          "startIntronOffset": 2483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NR_164500.1:n.1872+2484C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705744"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1417,
          "endIntronDirection": "+",
          "endIntronOffset": 2484,
          "referenceAllele": "C",
          "start": 1417,
          "startIntronDirection": "+",
          "startIntronOffset": 2483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NR_164501.1:n.1417+2484C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705745"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1869,
          "referenceAllele": "C",
          "start": 1868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NR_164502.1:n.1869C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705746"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573197817",
      "coordinates": [
        {
          "allele": "T",
          "end": 2047,
          "referenceAllele": "C",
          "start": 2046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NM_001308164.2:c.1939C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001295093.1:p.Arg647Ter",
        "hgvsWellDefined": "NP_001295093.1:p.Arg647_Asn770delinsAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspValProLeuAsnAspMetPheGlyTyrSerThrGluLeuArgSerCysThrGluGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717234"
    }
  ],
  "type": "nucleotide"
}