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  "@id": "http://reg.genome.network/allele/CA251577",
  "communityStandardTitle": [
    "NM_001109809.5(ZFP57):c.783C>A (p.Cys261Ter)"
  ],
  "externalRecords": {
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15754[alleleid]",
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        "preferredName": "NM_001109809.2(ZFP57):c.783C>A (p.Cys261Ter)"
      }
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    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/715",
        "RCV": [
          "RCV000000751"
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        "variationId": 715
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    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.29641105G>T?assembly=hg19",
        "id": "chr6:g.29641105G>T"
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    "MyVariantInfo_hg38": [
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        "@id": "http://myvariant.info/v1/variant/chr6:g.29673328G>T?assembly=hg38",
        "id": "chr6:g.29673328G>T"
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    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/61730328",
        "rs": 61730328
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      "chromosome": "6",
      "coordinates": [
        {
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          "end": 29673328,
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      "referenceGenome": "GRCh38",
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    },
    {
      "chromosome": "6",
      "coordinates": [
        {
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          "end": 29641105,
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      "referenceGenome": "GRCh37",
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    },
    {
      "chromosome": "6",
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        {
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          "start": 29749083
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
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    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS002689"
    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS751829",
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        "maneStatus": "MANE Select",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757599"
    },
    {
      "coordinates": [
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          "start": 530
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      "geneNCBI_id": 346171,
      "geneSymbol": "ZFP57",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000366078.4:p.Cys177_Lys452delinsSerValCysGlyLysSerPheArgAspGlnSerGluLeuLysArgHisGlnLysIleHisGlnAsnGlnGluProValAspGlyAsnGlnGluCysThrLeuArgIleProGlyThrGlnAlaGluPheGlnThrProIleAlaArgSerGlnArgSerIleGlnGlyLeuLeuAspValAsnHisAlaProValAlaArgSerGlnGluProIlePheArgThrGluGlyProMetAlaGlnAsnGlnAlaSerValLeuLysAsnGlnAlaProValThrArgThrGlnAlaProIleThrGlyThrLeuCysGlnAspAlaArgSerAsnSerHisProValLysProSerArgLeuAsnValPheCysCysProHisCysSerLeuThrPheSerLysLysSerTyrLeuSerArgHisGlnLysAlaHisLeuThrGluProProAsnTyrCysPheHisCysSerLysSerPheSerSerPheSerArgLeuValArgHisGlnGlnThrHisTrpLysGlnLysSerTyrLeuCysProIleCysAspLeuSerPheGlyGluLysGluGlyLeuMetAspHisTrpArgGlyTyrLysGlyLysAspLeuCysGlnSerSerHisHisLysCysArgValIleLeuGlyGlnTrpLeuGlyPheSerHisAspValProThrMetAlaGlyGluGluTrpLysHisGlyGlyAspGlnSerProProArgIleHisThrProArgArgArgGlyLeuArgGluLysAlaCysLysGlyAspLysThrLysGluAlaValSerIleLeuLysHisLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271354"
    },
    {
      "coordinates": [
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          "end": 1135,
          "referenceAllele": "C",
          "start": 1134
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      "geneNCBI_id": 346171,
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000366080.1:p.Cys241_Lys516delinsSerValCysGlyLysSerPheArgAspGlnSerGluLeuLysArgHisGlnLysIleHisGlnAsnGlnGluProValAspGlyAsnGlnGluCysThrLeuArgIleProGlyThrGlnAlaGluPheGlnThrProIleAlaArgSerGlnArgSerIleGlnGlyLeuLeuAspValAsnHisAlaProValAlaArgSerGlnGluProIlePheArgThrGluGlyProMetAlaGlnAsnGlnAlaSerValLeuLysAsnGlnAlaProValThrArgThrGlnAlaProIleThrGlyThrLeuCysGlnAspAlaArgSerAsnSerHisProValLysProSerArgLeuAsnValPheCysCysProHisCysSerLeuThrPheSerLysLysSerTyrLeuSerArgHisGlnLysAlaHisLeuThrGluProProAsnTyrCysPheHisCysSerLysSerPheSerSerPheSerArgLeuValArgHisGlnGlnThrHisTrpLysGlnLysSerTyrLeuCysProIleCysAspLeuSerPheGlyGluLysGluGlyLeuMetAspHisTrpArgGlyTyrLysGlyLysAspLeuCysGlnSerSerHisHisLysCysArgValIleLeuGlyGlnTrpLeuGlyPheSerHisAspValProThrMetAlaGlyGluGluTrpLysHisGlyGlyAspGlnSerProProArgIleHisThrProArgArgArgGlyLeuArgGluLysAlaCysLysGlyAspLysThrLysGluAlaValSerIleLeuLysHisLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271355"
    },
    {
      "coordinates": [
        {
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          "end": 934,
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        }
      ],
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000418259.1:p.Cys261_Lys536delinsSerValCysGlyLysSerPheArgAspGlnSerGluLeuLysArgHisGlnLysIleHisGlnAsnGlnGluProValAspGlyAsnGlnGluCysThrLeuArgIleProGlyThrGlnAlaGluPheGlnThrProIleAlaArgSerGlnArgSerIleGlnGlyLeuLeuAspValAsnHisAlaProValAlaArgSerGlnGluProIlePheArgThrGluGlyProMetAlaGlnAsnGlnAlaSerValLeuLysAsnGlnAlaProValThrArgThrGlnAlaProIleThrGlyThrLeuCysGlnAspAlaArgSerAsnSerHisProValLysProSerArgLeuAsnValPheCysCysProHisCysSerLeuThrPheSerLysLysSerTyrLeuSerArgHisGlnLysAlaHisLeuThrGluProProAsnTyrCysPheHisCysSerLysSerPheSerSerPheSerArgLeuValArgHisGlnGlnThrHisTrpLysGlnLysSerTyrLeuCysProIleCysAspLeuSerPheGlyGluLysGluGlyLeuMetAspHisTrpArgGlyTyrLysGlyLysAspLeuCysGlnSerSerHisHisLysCysArgValIleLeuGlyGlnTrpLeuGlyPheSerHisAspValProThrMetAlaGlyGluGluTrpLysHisGlyGlyAspGlnSerProProArgIleHisThrProArgArgArgGlyLeuArgGluLysAlaCysLysGlyAspLysThrLysGluAlaValSerIleLeuLysHisLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS326966"
    },
    {
      "@id": "http://reg.genome.network/allele/PA251578",
      "coordinates": [
        {
          "allele": "A",
          "end": 934,
          "referenceAllele": "C",
          "start": 933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018791",
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      "geneSymbol": "ZFP57",
      "hgvs": [
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_001103279.2:p.Cys261_Lys536delinsSerValCysGlyLysSerPheArgAspGlnSerGluLeuLysArgHisGlnLysIleHisGlnAsnGlnGluProValAspGlyAsnGlnGluCysThrLeuArgIleProGlyThrGlnAlaGluPheGlnThrProIleAlaArgSerGlnArgSerIleGlnGlyLeuLeuAspValAsnHisAlaProValAlaArgSerGlnGluProIlePheArgThrGluGlyProMetAlaGlnAsnGlnAlaSerValLeuLysAsnGlnAlaProValThrArgThrGlnAlaProIleThrGlyThrLeuCysGlnAspAlaArgSerAsnSerHisProValLysProSerArgLeuAsnValPheCysCysProHisCysSerLeuThrPheSerLysLysSerTyrLeuSerArgHisGlnLysAlaHisLeuThrGluProProAsnTyrCysPheHisCysSerLysSerPheSerSerPheSerArgLeuValArgHisGlnGlnThrHisTrpLysGlnLysSerTyrLeuCysProIleCysAspLeuSerPheGlyGluLysGluGlyLeuMetAspHisTrpArgGlyTyrLysGlyLysAspLeuCysGlnSerSerHisHisLysCysArgValIleLeuGlyGlnTrpLeuGlyPheSerHisAspValProThrMetAlaGlyGluGluTrpLysHisGlyGlyAspGlnSerProProArgIleHisThrProArgArgArgGlyLeuArgGluLysAlaCysLysGlyAspLysThrLysGluAlaValSerIleLeuLysHisLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011142"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 745,
          "referenceAllele": "C",
          "start": 744
        }
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      "geneSymbol": "ZFP57",
      "hgvs": [
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "XP_006715150.1:p.Cys189_Lys464delinsSerValCysGlyLysSerPheArgAspGlnSerGluLeuLysArgHisGlnLysIleHisGlnAsnGlnGluProValAspGlyAsnGlnGluCysThrLeuArgIleProGlyThrGlnAlaGluPheGlnThrProIleAlaArgSerGlnArgSerIleGlnGlyLeuLeuAspValAsnHisAlaProValAlaArgSerGlnGluProIlePheArgThrGluGlyProMetAlaGlnAsnGlnAlaSerValLeuLysAsnGlnAlaProValThrArgThrGlnAlaProIleThrGlyThrLeuCysGlnAspAlaArgSerAsnSerHisProValLysProSerArgLeuAsnValPheCysCysProHisCysSerLeuThrPheSerLysLysSerTyrLeuSerArgHisGlnLysAlaHisLeuThrGluProProAsnTyrCysPheHisCysSerLysSerPheSerSerPheSerArgLeuValArgHisGlnGlnThrHisTrpLysGlnLysSerTyrLeuCysProIleCysAspLeuSerPheGlyGluLysGluGlyLeuMetAspHisTrpArgGlyTyrLysGlyLysAspLeuCysGlnSerSerHisHisLysCysArgValIleLeuGlyGlnTrpLeuGlyPheSerHisAspValProThrMetAlaGlyGluGluTrpLysHisGlyGlyAspGlnSerProProArgIleHisThrProArgArgArgGlyLeuArgGluLysAlaCysLysGlyAspLysThrLysGluAlaValSerIleLeuLysHisLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071008"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1231,
          "referenceAllele": "C",
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        }
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      "hgvs": [
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "XP_011512872.1:p.Cys261_Lys536delinsSerValCysGlyLysSerPheArgAspGlnSerGluLeuLysArgHisGlnLysIleHisGlnAsnGlnGluProValAspGlyAsnGlnGluCysThrLeuArgIleProGlyThrGlnAlaGluPheGlnThrProIleAlaArgSerGlnArgSerIleGlnGlyLeuLeuAspValAsnHisAlaProValAlaArgSerGlnGluProIlePheArgThrGluGlyProMetAlaGlnAsnGlnAlaSerValLeuLysAsnGlnAlaProValThrArgThrGlnAlaProIleThrGlyThrLeuCysGlnAspAlaArgSerAsnSerHisProValLysProSerArgLeuAsnValPheCysCysProHisCysSerLeuThrPheSerLysLysSerTyrLeuSerArgHisGlnLysAlaHisLeuThrGluProProAsnTyrCysPheHisCysSerLysSerPheSerSerPheSerArgLeuValArgHisGlnGlnThrHisTrpLysGlnLysSerTyrLeuCysProIleCysAspLeuSerPheGlyGluLysGluGlyLeuMetAspHisTrpArgGlyTyrLysGlyLysAspLeuCysGlnSerSerHisHisLysCysArgValIleLeuGlyGlnTrpLeuGlyPheSerHisAspValProThrMetAlaGlyGluGluTrpLysHisGlyGlyAspGlnSerProProArgIleHisThrProArgArgArgGlyLeuArgGluLysAlaCysLysGlyAspLysThrLysGluAlaValSerIleLeuLysHisLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081795"
    },
    {
      "@id": "http://reg.genome.network/allele/PA251578",
      "coordinates": [
        {
          "allele": "A",
          "end": 1237,
          "referenceAllele": "C",
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      ],
      "gene": "http://reg.genome.network/gene/GN018791",
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      "geneSymbol": "ZFP57",
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001103279.2:p.Cys261_Lys536delinsSerValCysGlyLysSerPheArgAspGlnSerGluLeuLysArgHisGlnLysIleHisGlnAsnGlnGluProValAspGlyAsnGlnGluCysThrLeuArgIleProGlyThrGlnAlaGluPheGlnThrProIleAlaArgSerGlnArgSerIleGlnGlyLeuLeuAspValAsnHisAlaProValAlaArgSerGlnGluProIlePheArgThrGluGlyProMetAlaGlnAsnGlnAlaSerValLeuLysAsnGlnAlaProValThrArgThrGlnAlaProIleThrGlyThrLeuCysGlnAspAlaArgSerAsnSerHisProValLysProSerArgLeuAsnValPheCysCysProHisCysSerLeuThrPheSerLysLysSerTyrLeuSerArgHisGlnLysAlaHisLeuThrGluProProAsnTyrCysPheHisCysSerLysSerPheSerSerPheSerArgLeuValArgHisGlnGlnThrHisTrpLysGlnLysSerTyrLeuCysProIleCysAspLeuSerPheGlyGluLysGluGlyLeuMetAspHisTrpArgGlyTyrLysGlyLysAspLeuCysGlnSerSerHisHisLysCysArgValIleLeuGlyGlnTrpLeuGlyPheSerHisAspValProThrMetAlaGlyGluGluTrpLysHisGlyGlyAspGlnSerProProArgIleHisThrProArgArgArgGlyLeuArgGluLysAlaCysLysGlyAspLysThrLysGluAlaValSerIleLeuLysHisLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511345"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828206183",
      "coordinates": [
        {
          "allele": "A",
          "end": 751,
          "referenceAllele": "C",
          "start": 750
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      "gene": "http://reg.genome.network/gene/GN018791",
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        "NM_001366333.1:c.567C>A"
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001353262.1:p.Cys189_Lys464delinsSerValCysGlyLysSerPheArgAspGlnSerGluLeuLysArgHisGlnLysIleHisGlnAsnGlnGluProValAspGlyAsnGlnGluCysThrLeuArgIleProGlyThrGlnAlaGluPheGlnThrProIleAlaArgSerGlnArgSerIleGlnGlyLeuLeuAspValAsnHisAlaProValAlaArgSerGlnGluProIlePheArgThrGluGlyProMetAlaGlnAsnGlnAlaSerValLeuLysAsnGlnAlaProValThrArgThrGlnAlaProIleThrGlyThrLeuCysGlnAspAlaArgSerAsnSerHisProValLysProSerArgLeuAsnValPheCysCysProHisCysSerLeuThrPheSerLysLysSerTyrLeuSerArgHisGlnLysAlaHisLeuThrGluProProAsnTyrCysPheHisCysSerLysSerPheSerSerPheSerArgLeuValArgHisGlnGlnThrHisTrpLysGlnLysSerTyrLeuCysProIleCysAspLeuSerPheGlyGluLysGluGlyLeuMetAspHisTrpArgGlyTyrLysGlyLysAspLeuCysGlnSerSerHisHisLysCysArgValIleLeuGlyGlnTrpLeuGlyPheSerHisAspValProThrMetAlaGlyGluGluTrpLysHisGlyGlyAspGlnSerProProArgIleHisThrProArgArgArgGlyLeuArgGluLysAlaCysLysGlyAspLysThrLysGluAlaValSerIleLeuLysHisLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524562"
    },
    {
      "@id": "http://reg.genome.network/allele/PA251578",
      "coordinates": [
        {
          "allele": "A",
          "end": 1237,
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      ],
      "gene": "http://reg.genome.network/gene/GN018791",
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_001103279.2:p.Cys261Ter",
        "hgvsWellDefined": "NP_001103279.2:p.Cys261_Lys536delinsSerValCysGlyLysSerPheArgAspGlnSerGluLeuLysArgHisGlnLysIleHisGlnAsnGlnGluProValAspGlyAsnGlnGluCysThrLeuArgIleProGlyThrGlnAlaGluPheGlnThrProIleAlaArgSerGlnArgSerIleGlnGlyLeuLeuAspValAsnHisAlaProValAlaArgSerGlnGluProIlePheArgThrGluGlyProMetAlaGlnAsnGlnAlaSerValLeuLysAsnGlnAlaProValThrArgThrGlnAlaProIleThrGlyThrLeuCysGlnAspAlaArgSerAsnSerHisProValLysProSerArgLeuAsnValPheCysCysProHisCysSerLeuThrPheSerLysLysSerTyrLeuSerArgHisGlnLysAlaHisLeuThrGluProProAsnTyrCysPheHisCysSerLysSerPheSerSerPheSerArgLeuValArgHisGlnGlnThrHisTrpLysGlnLysSerTyrLeuCysProIleCysAspLeuSerPheGlyGluLysGluGlyLeuMetAspHisTrpArgGlyTyrLysGlyLysAspLeuCysGlnSerSerHisHisLysCysArgValIleLeuGlyGlnTrpLeuGlyPheSerHisAspValProThrMetAlaGlyGluGluTrpLysHisGlyGlyAspGlnSerProProArgIleHisThrProArgArgArgGlyLeuArgGluLysAlaCysLysGlyAspLysThrLysGluAlaValSerIleLeuLysHisLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676657"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828206183",
      "coordinates": [
        {
          "allele": "A",
          "end": 751,
          "referenceAllele": "C",
          "start": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018791",
      "geneNCBI_id": 346171,
      "geneSymbol": "ZFP57",
      "hgvs": [
        "NM_001366333.2:c.567C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001353262.1:p.Cys189Ter",
        "hgvsWellDefined": "NP_001353262.1:p.Cys189_Lys464delinsSerValCysGlyLysSerPheArgAspGlnSerGluLeuLysArgHisGlnLysIleHisGlnAsnGlnGluProValAspGlyAsnGlnGluCysThrLeuArgIleProGlyThrGlnAlaGluPheGlnThrProIleAlaArgSerGlnArgSerIleGlnGlyLeuLeuAspValAsnHisAlaProValAlaArgSerGlnGluProIlePheArgThrGluGlyProMetAlaGlnAsnGlnAlaSerValLeuLysAsnGlnAlaProValThrArgThrGlnAlaProIleThrGlyThrLeuCysGlnAspAlaArgSerAsnSerHisProValLysProSerArgLeuAsnValPheCysCysProHisCysSerLeuThrPheSerLysLysSerTyrLeuSerArgHisGlnLysAlaHisLeuThrGluProProAsnTyrCysPheHisCysSerLysSerPheSerSerPheSerArgLeuValArgHisGlnGlnThrHisTrpLysGlnLysSerTyrLeuCysProIleCysAspLeuSerPheGlyGluLysGluGlyLeuMetAspHisTrpArgGlyTyrLysGlyLysAspLeuCysGlnSerSerHisHisLysCysArgValIleLeuGlyGlnTrpLeuGlyPheSerHisAspValProThrMetAlaGlyGluGluTrpLysHisGlyGlyAspGlnSerProProArgIleHisThrProArgArgArgGlyLeuArgGluLysAlaCysLysGlyAspLysThrLysGluAlaValSerIleLeuLysHisLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691169"
    },
    {
      "@id": "http://reg.genome.network/allele/PA251578",
      "coordinates": [
        {
          "allele": "A",
          "end": 1237,
          "referenceAllele": "C",
          "start": 1236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018791",
      "geneNCBI_id": 346171,
      "geneSymbol": "ZFP57",
      "hgvs": [
        "NM_001109809.5:c.783C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001103279.2:p.Cys261Ter",
        "hgvsWellDefined": "NP_001103279.2:p.Cys261_Lys536delinsSerValCysGlyLysSerPheArgAspGlnSerGluLeuLysArgHisGlnLysIleHisGlnAsnGlnGluProValAspGlyAsnGlnGluCysThrLeuArgIleProGlyThrGlnAlaGluPheGlnThrProIleAlaArgSerGlnArgSerIleGlnGlyLeuLeuAspValAsnHisAlaProValAlaArgSerGlnGluProIlePheArgThrGluGlyProMetAlaGlnAsnGlnAlaSerValLeuLysAsnGlnAlaProValThrArgThrGlnAlaProIleThrGlyThrLeuCysGlnAspAlaArgSerAsnSerHisProValLysProSerArgLeuAsnValPheCysCysProHisCysSerLeuThrPheSerLysLysSerTyrLeuSerArgHisGlnLysAlaHisLeuThrGluProProAsnTyrCysPheHisCysSerLysSerPheSerSerPheSerArgLeuValArgHisGlnGlnThrHisTrpLysGlnLysSerTyrLeuCysProIleCysAspLeuSerPheGlyGluLysGluGlyLeuMetAspHisTrpArgGlyTyrLysGlyLysAspLeuCysGlnSerSerHisHisLysCysArgValIleLeuGlyGlnTrpLeuGlyPheSerHisAspValProThrMetAlaGlyGluGluTrpLysHisGlyGlyAspGlnSerProProArgIleHisThrProArgArgArgGlyLeuArgGluLysAlaCysLysGlyAspLysThrLysGluAlaValSerIleLeuLysHisLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712089",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376883.2:c.783C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001109809.5:c.783C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000366080.2:p.Cys261Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001103279.2:p.Cys261Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}