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      "proteinEffect": {
        "hgvs": "XP_016881587.1:p.Lys709Ter",
        "hgvsWellDefined": "XP_016881587.1:p.Lys709_Ser896delinsAspTrpThrHisGlnGlyIleAlaLysLeuTyrHisSerIleAsnGluAsnGlyTyrLysPheLeuTyrCysSerAlaArgAlaIleGlyMetAlaAspMetThrArgGlyTyrLeuHisTrpValAsnAspLysGlyThrIleLeuProArgGlyProLeuMetLeuSerProSerSerLeuPheSerAlaPheHisArgGluValIleGluLysLysProGluLysPheLysIleGluCysLeuAsnAspIleLysAsnLeuPheAlaProSerLysGlnProPheTyrAlaAlaPheGlyAsnArgProAsnAspValTyrAlaTyrThrGlnValGlyValProAspCysArgIlePheThrValAsnProLysGlyGluLeuIleGlnGluArgThrLysGlyAsnLysSerSerTyrHisArgLeuSerGluLeuValGluHisValPheProLeuLeuSerLysGluGlnAsnSerAlaPheProCysProGluPheSerSerPheCysTyrTrpArgAspProIleProGluValAspLeuAspAspLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576306"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2224,
          "referenceAllele": "A",
          "start": 2223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "XM_017026099.1:c.2125A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881588.1:p.Lys709Ter",
        "hgvsWellDefined": "XP_016881588.1:p.Lys709_Ser896delinsAspTrpThrHisGlnGlyIleAlaLysLeuTyrHisSerIleAsnGluAsnGlyTyrLysPheLeuTyrCysSerAlaArgAlaIleGlyMetAlaAspMetThrArgGlyTyrLeuHisTrpValAsnAspLysGlyThrIleLeuProArgGlyProLeuMetLeuSerProSerSerLeuPheSerAlaPheHisArgGluValIleGluLysLysProGluLysPheLysIleGluCysLeuAsnAspIleLysAsnLeuPheAlaProSerLysGlnProPheTyrAlaAlaPheGlyAsnArgProAsnAspValTyrAlaTyrThrGlnValGlyValProAspCysArgIlePheThrValAsnProLysGlyGluLeuIleGlnGluArgThrLysGlyAsnLysSerSerTyrHisArgLeuSerGluLeuValGluHisValPheProLeuLeuSerLysGluGlnAsnSerAlaPheProCysProGluPheSerSerPheCysTyrTrpArgAspProIleProGluValAspLeuAspAspLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576307"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828629098",
      "coordinates": [
        {
          "allele": "T",
          "end": 2363,
          "referenceAllele": "A",
          "start": 2362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "NM_001375808.1:c.2125A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362737.1:p.Lys709Ter",
        "hgvsWellDefined": "NP_001362737.1:p.Lys709_Ser896delinsAspTrpThrHisGlnGlyIleAlaLysLeuTyrHisSerIleAsnGluAsnGlyTyrLysPheLeuTyrCysSerAlaArgAlaIleGlyMetAlaAspMetThrArgGlyTyrLeuHisTrpValAsnAspLysGlyThrIleLeuProArgGlyProLeuMetLeuSerProSerSerLeuPheSerAlaPheHisArgGluValIleGluLysLysProGluLysPheLysIleGluCysLeuAsnAspIleLysAsnLeuPheAlaProSerLysGlnProPheTyrAlaAlaPheGlyAsnArgProAsnAspValTyrAlaTyrThrGlnValGlyValProAspCysArgIlePheThrValAsnProLysGlyGluLeuIleGlnGluArgThrLysGlyAsnLysSerSerTyrHisArgLeuSerGluLeuValGluHisValPheProLeuLeuSerLysGluGlnAsnSerAlaPheProCysProGluPheSerSerPheCysTyrTrpArgAspProIleProGluValAspLeuAspAspLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693890"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828629573",
      "coordinates": [
        {
          "allele": "T",
          "end": 2242,
          "referenceAllele": "A",
          "start": 2241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "NM_001375809.1:c.2125A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362738.1:p.Lys709Ter",
        "hgvsWellDefined": "NP_001362738.1:p.Lys709_Ser896delinsAspTrpThrHisGlnGlyIleAlaLysLeuTyrHisSerIleAsnGluAsnGlyTyrLysPheLeuTyrCysSerAlaArgAlaIleGlyMetAlaAspMetThrArgGlyTyrLeuHisTrpValAsnAspLysGlyThrIleLeuProArgGlyProLeuMetLeuSerProSerSerLeuPheSerAlaPheHisArgGluValIleGluLysLysProGluLysPheLysIleGluCysLeuAsnAspIleLysAsnLeuPheAlaProSerLysGlnProPheTyrAlaAlaPheGlyAsnArgProAsnAspValTyrAlaTyrThrGlnValGlyValProAspCysArgIlePheThrValAsnProLysGlyGluLeuIleGlnGluArgThrLysGlyAsnLysSerSerTyrHisArgLeuSerGluLeuValGluHisValPheProLeuLeuSerLysGluGlnAsnSerAlaPheProCysProGluPheSerSerPheCysTyrTrpArgAspProIleProGluValAspLeuAspAspLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693891"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828629098",
      "coordinates": [
        {
          "allele": "T",
          "end": 2192,
          "referenceAllele": "A",
          "start": 2191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "NM_001375808.2:c.2125A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362737.1:p.Lys709Ter",
        "hgvsWellDefined": "NP_001362737.1:p.Lys709_Ser896delinsAspTrpThrHisGlnGlyIleAlaLysLeuTyrHisSerIleAsnGluAsnGlyTyrLysPheLeuTyrCysSerAlaArgAlaIleGlyMetAlaAspMetThrArgGlyTyrLeuHisTrpValAsnAspLysGlyThrIleLeuProArgGlyProLeuMetLeuSerProSerSerLeuPheSerAlaPheHisArgGluValIleGluLysLysProGluLysPheLysIleGluCysLeuAsnAspIleLysAsnLeuPheAlaProSerLysGlnProPheTyrAlaAlaPheGlyAsnArgProAsnAspValTyrAlaTyrThrGlnValGlyValProAspCysArgIlePheThrValAsnProLysGlyGluLeuIleGlnGluArgThrLysGlyAsnLysSerSerTyrHisArgLeuSerGluLeuValGluHisValPheProLeuLeuSerLysGluGlnAsnSerAlaPheProCysProGluPheSerSerPheCysTyrTrpArgAspProIleProGluValAspLeuAspAspLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721228",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000677752.1:c.2125A>T"
          },
          "RefSeq": {
            "hgvs": "NM_001375808.2:c.2125A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000504857.1:p.Lys709Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001362737.1:p.Lys709Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}