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  "@id": "http://reg.genome.network/allele/CA393519620",
  "communityStandardTitle": [
    "NM_000126.4(ETFA):c.7C>T (p.Arg3Ter)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=788891[alleleid]",
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        "preferredName": "NM_000126.4(ETFA):c.7C>T (p.Arg3Ter)"
      }
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    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/800971",
        "RCV": [
          "RCV000985194"
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        "variationId": 800971
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    ],
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      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.76603723G>A?assembly=hg19",
        "id": "chr15:g.76603723G>A"
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    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.76311382G>A?assembly=hg38",
        "id": "chr15:g.76311382G>A"
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    ],
    "dbSNP": [
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/1475984278",
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    {
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    },
    {
      "chromosome": "15",
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      "referenceSequence": "http://reg.genome.network/refseq/RS826116"
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      "referenceSequence": "http://reg.genome.network/refseq/RS829890"
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      "referenceSequence": "http://reg.genome.network/refseq/RS830136"
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      "referenceSequence": "http://reg.genome.network/refseq/RS831019"
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        {
          "allele": "T",
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      "referenceSequence": "http://reg.genome.network/refseq/RS831601"
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        {
          "allele": "T",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375253"
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        {
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        "hgvsWellDefined": "ENSP00000453345.1:p.Arg3_Met303del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375465"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 85,
          "referenceAllele": "C",
          "start": 84
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "ENST00000560726.5:c.-545C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453098.1:n.-545C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375564"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 33,
          "referenceAllele": "C",
          "start": 32
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "ENST00000560899.5:c.-545C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453422.1:n.-545C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375693"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 21,
          "referenceAllele": "C",
          "start": 20
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "ENST00000561092.1:n.21C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS375848"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825047443",
      "coordinates": [
        {
          "allele": "T",
          "end": 88,
          "referenceAllele": "C",
          "start": 87
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "NM_000126.3:c.7C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000117.1:p.Arg3Ter",
        "hgvsWellDefined": "NP_000117.1:p.Arg3_Lys333delinsAlaAlaAlaProGlyGlnLeuArgArgAlaAlaSerLeuLeuArgPheGlnSerThrLeuValIleAlaGluHisAlaAsnAspSerLeuAlaProIleThrLeuAsnThrIleThrAlaAlaThrArgLeuGlyGlyGluValSerCysLeuValAlaGlyThrLysCysAspLysValAlaGlnAspLeuCysLysValAlaGlyIleAlaLysValLeuValAlaGlnHisAspValTyrLysGlyLeuLeuProGluGluLeuThrProLeuIleLeuAlaThrGlnLysGlnPheAsnTyrThrHisIleCysAlaGlyAlaSerAlaPheGlyLysAsnLeuLeuProArgValAlaAlaLysLeuGluValAlaProIleSerAspIleIleAlaIleLysSerProAspThrPheValArgThrIleTyrAlaGlyAsnAlaLeuCysThrValLysCysAspGluLysValLysValPheSerValArgGlyThrSerPheAspAlaAlaAlaThrSerGlyGlySerAlaSerSerGluLysAlaSerSerThrSerProValGluIleSerGluTrpLeuAspGlnLysLeuThrLysSerAspArgProGluLeuThrGlyAlaLysValValValSerGlyGlyArgGlyLeuLysSerGlyGluAsnPheLysLeuLeuTyrAspLeuAlaAspGlnLeuHisAlaAlaValGlyAlaSerArgAlaAlaValAspAlaGlyPheValProAsnAspMetGlnValGlyGlnThrGlyLysIleValAlaProGluLeuTyrIleAlaValGlyIleSerGlyAlaIleGlnHisLeuAlaGlyMetLysAspSerLysThrIleValAlaIleAsnLysAspProGluAlaProIlePheGlnValAlaAspTyrGlyIleValAlaAspLeuPheLysValValProGluMetThrGluIleLeuLysLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006188"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915968480",
      "coordinates": [
        {
          "allele": "T",
          "end": 88,
          "referenceAllele": "C",
          "start": 87
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "NM_001127716.1:c.7C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121188.1:p.Arg3Ter",
        "hgvsWellDefined": "NP_001121188.1:p.Arg3_Lys284delinsAlaAlaAlaProGlyGlnLeuArgArgAlaValAlaGlnAspLeuCysLysValAlaGlyIleAlaLysValLeuValAlaGlnHisAspValTyrLysGlyLeuLeuProGluGluLeuThrProLeuIleLeuAlaThrGlnLysGlnPheAsnTyrThrHisIleCysAlaGlyAlaSerAlaPheGlyLysAsnLeuLeuProArgValAlaAlaLysLeuGluValAlaProIleSerAspIleIleAlaIleLysSerProAspThrPheValArgThrIleTyrAlaGlyAsnAlaLeuCysThrValLysCysAspGluLysValLysValPheSerValArgGlyThrSerPheAspAlaAlaAlaThrSerGlyGlySerAlaSerSerGluLysAlaSerSerThrSerProValGluIleSerGluTrpLeuAspGlnLysLeuThrLysSerAspArgProGluLeuThrGlyAlaLysValValValSerGlyGlyArgGlyLeuLysSerGlyGluAsnPheLysLeuLeuTyrAspLeuAlaAspGlnLeuHisAlaAlaValGlyAlaSerArgAlaAlaValAspAlaGlyPheValProAsnAspMetGlnValGlyGlnThrGlyLysIleValAlaProGluLeuTyrIleAlaValGlyIleSerGlyAlaIleGlnHisLeuAlaGlyMetLysAspSerLysThrIleValAlaIleAsnLysAspProGluAlaProIlePheGlnValAlaAspTyrGlyIleValAlaAspLeuPheLysValValProGluMetThrGluIleLeuLysLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011697"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 62,
          "referenceAllele": "C",
          "start": 61
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "XR_931766.1:n.62C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127856"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 88,
          "referenceAllele": "C",
          "start": 87
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "XR_931766.3:n.88C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610011"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825047443",
      "coordinates": [
        {
          "allele": "T",
          "end": 88,
          "referenceAllele": "C",
          "start": 87
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "NM_000126.4:c.7C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000117.1:p.Arg3Ter",
        "hgvsWellDefined": "NP_000117.1:p.Arg3_Lys333delinsAlaAlaAlaProGlyGlnLeuArgArgAlaAlaSerLeuLeuArgPheGlnSerThrLeuValIleAlaGluHisAlaAsnAspSerLeuAlaProIleThrLeuAsnThrIleThrAlaAlaThrArgLeuGlyGlyGluValSerCysLeuValAlaGlyThrLysCysAspLysValAlaGlnAspLeuCysLysValAlaGlyIleAlaLysValLeuValAlaGlnHisAspValTyrLysGlyLeuLeuProGluGluLeuThrProLeuIleLeuAlaThrGlnLysGlnPheAsnTyrThrHisIleCysAlaGlyAlaSerAlaPheGlyLysAsnLeuLeuProArgValAlaAlaLysLeuGluValAlaProIleSerAspIleIleAlaIleLysSerProAspThrPheValArgThrIleTyrAlaGlyAsnAlaLeuCysThrValLysCysAspGluLysValLysValPheSerValArgGlyThrSerPheAspAlaAlaAlaThrSerGlyGlySerAlaSerSerGluLysAlaSerSerThrSerProValGluIleSerGluTrpLeuAspGlnLysLeuThrLysSerAspArgProGluLeuThrGlyAlaLysValValValSerGlyGlyArgGlyLeuLysSerGlyGluAsnPheLysLeuLeuTyrAspLeuAlaAspGlnLeuHisAlaAlaValGlyAlaSerArgAlaAlaValAspAlaGlyPheValProAsnAspMetGlnValGlyGlnThrGlyLysIleValAlaProGluLeuTyrIleAlaValGlyIleSerGlyAlaIleGlnHisLeuAlaGlyMetLysAspSerLysThrIleValAlaIleAsnLysAspProGluAlaProIlePheGlnValAlaAspTyrGlyIleValAlaAspLeuPheLysValValProGluMetThrGluIleLeuLysLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662323",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000557943.6:c.7C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000126.4:c.7C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000452762.1:p.Arg3Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000117.1:p.Arg3Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA915968480",
      "coordinates": [
        {
          "allele": "T",
          "end": 88,
          "referenceAllele": "C",
          "start": 87
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "NM_001127716.2:c.7C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121188.1:p.Arg3Ter",
        "hgvsWellDefined": "NP_001121188.1:p.Arg3_Lys284delinsAlaAlaAlaProGlyGlnLeuArgArgAlaValAlaGlnAspLeuCysLysValAlaGlyIleAlaLysValLeuValAlaGlnHisAspValTyrLysGlyLeuLeuProGluGluLeuThrProLeuIleLeuAlaThrGlnLysGlnPheAsnTyrThrHisIleCysAlaGlyAlaSerAlaPheGlyLysAsnLeuLeuProArgValAlaAlaLysLeuGluValAlaProIleSerAspIleIleAlaIleLysSerProAspThrPheValArgThrIleTyrAlaGlyAsnAlaLeuCysThrValLysCysAspGluLysValLysValPheSerValArgGlyThrSerPheAspAlaAlaAlaThrSerGlyGlySerAlaSerSerGluLysAlaSerSerThrSerProValGluIleSerGluTrpLeuAspGlnLysLeuThrLysSerAspArgProGluLeuThrGlyAlaLysValValValSerGlyGlyArgGlyLeuLysSerGlyGluAsnPheLysLeuLeuTyrAspLeuAlaAspGlnLeuHisAlaAlaValGlyAlaSerArgAlaAlaValAspAlaGlyPheValProAsnAspMetGlnValGlyGlnThrGlyLysIleValAlaProGluLeuTyrIleAlaValGlyIleSerGlyAlaIleGlnHisLeuAlaGlyMetLysAspSerLysThrIleValAlaIleAsnLysAspProGluAlaProIlePheGlnValAlaAspTyrGlyIleValAlaAspLeuPheLysValValProGluMetThrGluIleLeuLysLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712230"
    }
  ],
  "type": "nucleotide"
}