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  "communityStandardTitle": [
    "NM_001375808.2(LPIN2):c.1843G>T (p.Glu615Ter)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1075334",
        "RCV": [
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      "hgvs": [
        "XM_005258177.4:c.1954G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258234.1:p.Glu652Ter",
        "hgvsWellDefined": "XP_005258234.1:p.Glu652_Ser933delinsSerIleThrValAspProIleProThrGluProLeuSerHisGlySerThrThrSerTyrLysLysSerLeuArgLeuSerSerAspGlnIleAlaLysLeuLysLeuHisAspGlyProAsnAspValValPheSerIleThrThrGlnTyrGlnGlyThrCysArgCysAlaGlyThrIleTyrLeuTrpAsnTrpAsnAspLysIleIleIleSerAspIleAspGlyThrIleThrLysSerAspAlaLeuGlyGlnIleLeuProGlnLeuGlyLysAspTrpThrHisGlnGlyIleAlaLysLeuTyrHisSerIleAsnGluAsnGlyTyrLysPheLeuTyrCysSerAlaArgAlaIleGlyMetAlaAspMetThrArgGlyTyrLeuHisTrpValAsnAspLysGlyThrIleLeuProArgGlyProLeuMetLeuSerProSerSerLeuPheSerAlaPheHisArgGluValIleGluLysLysProGluLysPheLysIleGluCysLeuAsnAspIleLysAsnLeuPheAlaProSerLysGlnProPheTyrAlaAlaPheGlyAsnArgProAsnAspValTyrAlaTyrThrGlnValGlyValProAspCysArgIlePheThrValAsnProLysGlyGluLeuIleGlnGluArgThrLysGlyAsnLysSerSerTyrHisArgLeuSerGluLeuValGluHisValPheProLeuLeuSerLysGluGlnAsnSerAlaPheProCysProGluPheSerSerPheCysTyrTrpArgAspProIleProGluValAspLeuAspAspLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534793"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2081,
          "referenceAllele": "G",
          "start": 2080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "XM_005258178.3:c.1843G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258235.1:p.Glu615Ter",
        "hgvsWellDefined": "XP_005258235.1:p.Glu615_Ser896delinsSerIleThrValAspProIleProThrGluProLeuSerHisGlySerThrThrSerTyrLysLysSerLeuArgLeuSerSerAspGlnIleAlaLysLeuLysLeuHisAspGlyProAsnAspValValPheSerIleThrThrGlnTyrGlnGlyThrCysArgCysAlaGlyThrIleTyrLeuTrpAsnTrpAsnAspLysIleIleIleSerAspIleAspGlyThrIleThrLysSerAspAlaLeuGlyGlnIleLeuProGlnLeuGlyLysAspTrpThrHisGlnGlyIleAlaLysLeuTyrHisSerIleAsnGluAsnGlyTyrLysPheLeuTyrCysSerAlaArgAlaIleGlyMetAlaAspMetThrArgGlyTyrLeuHisTrpValAsnAspLysGlyThrIleLeuProArgGlyProLeuMetLeuSerProSerSerLeuPheSerAlaPheHisArgGluValIleGluLysLysProGluLysPheLysIleGluCysLeuAsnAspIleLysAsnLeuPheAlaProSerLysGlnProPheTyrAlaAlaPheGlyAsnArgProAsnAspValTyrAlaTyrThrGlnValGlyValProAspCysArgIlePheThrValAsnProLysGlyGluLeuIleGlnGluArgThrLysGlyAsnLysSerSerTyrHisArgLeuSerGluLeuValGluHisValPheProLeuLeuSerLysGluGlnAsnSerAlaPheProCysProGluPheSerSerPheCysTyrTrpArgAspProIleProGluValAspLeuAspAspLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534794"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2016,
          "referenceAllele": "G",
          "start": 2015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "XM_005258179.5:c.1843G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258236.1:p.Glu615Ter",
        "hgvsWellDefined": "XP_005258236.1:p.Glu615_Ser896delinsSerIleThrValAspProIleProThrGluProLeuSerHisGlySerThrThrSerTyrLysLysSerLeuArgLeuSerSerAspGlnIleAlaLysLeuLysLeuHisAspGlyProAsnAspValValPheSerIleThrThrGlnTyrGlnGlyThrCysArgCysAlaGlyThrIleTyrLeuTrpAsnTrpAsnAspLysIleIleIleSerAspIleAspGlyThrIleThrLysSerAspAlaLeuGlyGlnIleLeuProGlnLeuGlyLysAspTrpThrHisGlnGlyIleAlaLysLeuTyrHisSerIleAsnGluAsnGlyTyrLysPheLeuTyrCysSerAlaArgAlaIleGlyMetAlaAspMetThrArgGlyTyrLeuHisTrpValAsnAspLysGlyThrIleLeuProArgGlyProLeuMetLeuSerProSerSerLeuPheSerAlaPheHisArgGluValIleGluLysLysProGluLysPheLysIleGluCysLeuAsnAspIleLysAsnLeuPheAlaProSerLysGlnProPheTyrAlaAlaPheGlyAsnArgProAsnAspValTyrAlaTyrThrGlnValGlyValProAspCysArgIlePheThrValAsnProLysGlyGluLeuIleGlnGluArgThrLysGlyAsnLysSerSerTyrHisArgLeuSerGluLeuValGluHisValPheProLeuLeuSerLysGluGlnAsnSerAlaPheProCysProGluPheSerSerPheCysTyrTrpArgAspProIleProGluValAspLeuAspAspLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534795"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2171,
          "referenceAllele": "G",
          "start": 2170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "XM_017026098.1:c.1843G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881587.1:p.Glu615Ter",
        "hgvsWellDefined": "XP_016881587.1:p.Glu615_Ser896delinsSerIleThrValAspProIleProThrGluProLeuSerHisGlySerThrThrSerTyrLysLysSerLeuArgLeuSerSerAspGlnIleAlaLysLeuLysLeuHisAspGlyProAsnAspValValPheSerIleThrThrGlnTyrGlnGlyThrCysArgCysAlaGlyThrIleTyrLeuTrpAsnTrpAsnAspLysIleIleIleSerAspIleAspGlyThrIleThrLysSerAspAlaLeuGlyGlnIleLeuProGlnLeuGlyLysAspTrpThrHisGlnGlyIleAlaLysLeuTyrHisSerIleAsnGluAsnGlyTyrLysPheLeuTyrCysSerAlaArgAlaIleGlyMetAlaAspMetThrArgGlyTyrLeuHisTrpValAsnAspLysGlyThrIleLeuProArgGlyProLeuMetLeuSerProSerSerLeuPheSerAlaPheHisArgGluValIleGluLysLysProGluLysPheLysIleGluCysLeuAsnAspIleLysAsnLeuPheAlaProSerLysGlnProPheTyrAlaAlaPheGlyAsnArgProAsnAspValTyrAlaTyrThrGlnValGlyValProAspCysArgIlePheThrValAsnProLysGlyGluLeuIleGlnGluArgThrLysGlyAsnLysSerSerTyrHisArgLeuSerGluLeuValGluHisValPheProLeuLeuSerLysGluGlnAsnSerAlaPheProCysProGluPheSerSerPheCysTyrTrpArgAspProIleProGluValAspLeuAspAspLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576306"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1942,
          "referenceAllele": "G",
          "start": 1941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "XM_017026099.1:c.1843G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881588.1:p.Glu615Ter",
        "hgvsWellDefined": "XP_016881588.1:p.Glu615_Ser896delinsSerIleThrValAspProIleProThrGluProLeuSerHisGlySerThrThrSerTyrLysLysSerLeuArgLeuSerSerAspGlnIleAlaLysLeuLysLeuHisAspGlyProAsnAspValValPheSerIleThrThrGlnTyrGlnGlyThrCysArgCysAlaGlyThrIleTyrLeuTrpAsnTrpAsnAspLysIleIleIleSerAspIleAspGlyThrIleThrLysSerAspAlaLeuGlyGlnIleLeuProGlnLeuGlyLysAspTrpThrHisGlnGlyIleAlaLysLeuTyrHisSerIleAsnGluAsnGlyTyrLysPheLeuTyrCysSerAlaArgAlaIleGlyMetAlaAspMetThrArgGlyTyrLeuHisTrpValAsnAspLysGlyThrIleLeuProArgGlyProLeuMetLeuSerProSerSerLeuPheSerAlaPheHisArgGluValIleGluLysLysProGluLysPheLysIleGluCysLeuAsnAspIleLysAsnLeuPheAlaProSerLysGlnProPheTyrAlaAlaPheGlyAsnArgProAsnAspValTyrAlaTyrThrGlnValGlyValProAspCysArgIlePheThrValAsnProLysGlyGluLeuIleGlnGluArgThrLysGlyAsnLysSerSerTyrHisArgLeuSerGluLeuValGluHisValPheProLeuLeuSerLysGluGlnAsnSerAlaPheProCysProGluPheSerSerPheCysTyrTrpArgAspProIleProGluValAspLeuAspAspLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576307"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828629050",
      "coordinates": [
        {
          "allele": "T",
          "end": 2081,
          "referenceAllele": "G",
          "start": 2080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "NM_001375808.1:c.1843G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362737.1:p.Glu615Ter",
        "hgvsWellDefined": "NP_001362737.1:p.Glu615_Ser896delinsSerIleThrValAspProIleProThrGluProLeuSerHisGlySerThrThrSerTyrLysLysSerLeuArgLeuSerSerAspGlnIleAlaLysLeuLysLeuHisAspGlyProAsnAspValValPheSerIleThrThrGlnTyrGlnGlyThrCysArgCysAlaGlyThrIleTyrLeuTrpAsnTrpAsnAspLysIleIleIleSerAspIleAspGlyThrIleThrLysSerAspAlaLeuGlyGlnIleLeuProGlnLeuGlyLysAspTrpThrHisGlnGlyIleAlaLysLeuTyrHisSerIleAsnGluAsnGlyTyrLysPheLeuTyrCysSerAlaArgAlaIleGlyMetAlaAspMetThrArgGlyTyrLeuHisTrpValAsnAspLysGlyThrIleLeuProArgGlyProLeuMetLeuSerProSerSerLeuPheSerAlaPheHisArgGluValIleGluLysLysProGluLysPheLysIleGluCysLeuAsnAspIleLysAsnLeuPheAlaProSerLysGlnProPheTyrAlaAlaPheGlyAsnArgProAsnAspValTyrAlaTyrThrGlnValGlyValProAspCysArgIlePheThrValAsnProLysGlyGluLeuIleGlnGluArgThrLysGlyAsnLysSerSerTyrHisArgLeuSerGluLeuValGluHisValPheProLeuLeuSerLysGluGlnAsnSerAlaPheProCysProGluPheSerSerPheCysTyrTrpArgAspProIleProGluValAspLeuAspAspLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693890"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828629525",
      "coordinates": [
        {
          "allele": "T",
          "end": 1960,
          "referenceAllele": "G",
          "start": 1959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "NM_001375809.1:c.1843G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362738.1:p.Glu615Ter",
        "hgvsWellDefined": "NP_001362738.1:p.Glu615_Ser896delinsSerIleThrValAspProIleProThrGluProLeuSerHisGlySerThrThrSerTyrLysLysSerLeuArgLeuSerSerAspGlnIleAlaLysLeuLysLeuHisAspGlyProAsnAspValValPheSerIleThrThrGlnTyrGlnGlyThrCysArgCysAlaGlyThrIleTyrLeuTrpAsnTrpAsnAspLysIleIleIleSerAspIleAspGlyThrIleThrLysSerAspAlaLeuGlyGlnIleLeuProGlnLeuGlyLysAspTrpThrHisGlnGlyIleAlaLysLeuTyrHisSerIleAsnGluAsnGlyTyrLysPheLeuTyrCysSerAlaArgAlaIleGlyMetAlaAspMetThrArgGlyTyrLeuHisTrpValAsnAspLysGlyThrIleLeuProArgGlyProLeuMetLeuSerProSerSerLeuPheSerAlaPheHisArgGluValIleGluLysLysProGluLysPheLysIleGluCysLeuAsnAspIleLysAsnLeuPheAlaProSerLysGlnProPheTyrAlaAlaPheGlyAsnArgProAsnAspValTyrAlaTyrThrGlnValGlyValProAspCysArgIlePheThrValAsnProLysGlyGluLeuIleGlnGluArgThrLysGlyAsnLysSerSerTyrHisArgLeuSerGluLeuValGluHisValPheProLeuLeuSerLysGluGlnAsnSerAlaPheProCysProGluPheSerSerPheCysTyrTrpArgAspProIleProGluValAspLeuAspAspLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693891"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828629050",
      "coordinates": [
        {
          "allele": "T",
          "end": 1910,
          "referenceAllele": "G",
          "start": 1909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "NM_001375808.2:c.1843G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362737.1:p.Glu615Ter",
        "hgvsWellDefined": "NP_001362737.1:p.Glu615_Ser896delinsSerIleThrValAspProIleProThrGluProLeuSerHisGlySerThrThrSerTyrLysLysSerLeuArgLeuSerSerAspGlnIleAlaLysLeuLysLeuHisAspGlyProAsnAspValValPheSerIleThrThrGlnTyrGlnGlyThrCysArgCysAlaGlyThrIleTyrLeuTrpAsnTrpAsnAspLysIleIleIleSerAspIleAspGlyThrIleThrLysSerAspAlaLeuGlyGlnIleLeuProGlnLeuGlyLysAspTrpThrHisGlnGlyIleAlaLysLeuTyrHisSerIleAsnGluAsnGlyTyrLysPheLeuTyrCysSerAlaArgAlaIleGlyMetAlaAspMetThrArgGlyTyrLeuHisTrpValAsnAspLysGlyThrIleLeuProArgGlyProLeuMetLeuSerProSerSerLeuPheSerAlaPheHisArgGluValIleGluLysLysProGluLysPheLysIleGluCysLeuAsnAspIleLysAsnLeuPheAlaProSerLysGlnProPheTyrAlaAlaPheGlyAsnArgProAsnAspValTyrAlaTyrThrGlnValGlyValProAspCysArgIlePheThrValAsnProLysGlyGluLeuIleGlnGluArgThrLysGlyAsnLysSerSerTyrHisArgLeuSerGluLeuValGluHisValPheProLeuLeuSerLysGluGlnAsnSerAlaPheProCysProGluPheSerSerPheCysTyrTrpArgAspProIleProGluValAspLeuAspAspLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721228",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000677752.1:c.1843G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001375808.2:c.1843G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000504857.1:p.Glu615Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001362737.1:p.Glu615Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}