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  "@id": "http://reg.genome.network/allele/CA358209204",
  "communityStandardTitle": [
    "NM_018699.4(PRDM5):c.307G>T (p.Glu103Ter)"
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        "preferredName": "NM_018699.4(PRDM5):c.307G>T (p.Glu103Ter)"
      }
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2972163",
        "RCV": [
          "RCV003835289"
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        "variationId": 2972163
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      "referenceGenome": "GRCh38",
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      "referenceGenome": "NCBI36",
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      "referenceSequence": "http://reg.genome.network/refseq/RS344432"
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        "hgvsWellDefined": "NP_061169.2:p.Glu103_Ser630delinsAsnIlePheTyrLeuAlaValGluAspIleGluThrAspThrGluLeuLeuIleGlyTyrLeuAspSerAspMetGluAlaGluGluGluGluGlnGlnIleMetThrValIleLysGluGlyGluValGluAsnSerArgArgGlnSerThrAlaGlyArgLysAspArgLeuGlyCysLysGluAspTyrAlaCysProGlnCysGluSerSerPheThrSerGluAspIleLeuAlaGluHisLeuGlnThrLeuHisGlnLysProThrGluGluLysGluPheLysCysLysAsnCysGlyLysLysPheProValLysGlnAlaLeuGlnArgHisValLeuGlnCysThrAlaLysSerSerLeuLysGluSerSerArgSerPheGlnCysSerValCysAsnSerSerPheSerSerAlaSerSerPheGluGlnHisGlnGluThrCysArgGlyAspAlaArgPheValCysLysAlaAspSerCysGlyLysArgLeuLysSerLysAspAlaLeuLysArgHisGlnGluAsnValHisThrGlyAspProLysLysLysLeuIleCysSerValCysAsnLysLysCysSerSerAlaSerSerLeuGlnGluHisArgLysIleHisGluIlePheAspCysGlnGluCysMetLysLysPheIleSerAlaAsnGlnLeuLysArgHisMetIleThrHisSerGluLysArgProTyrAsnCysGluIleCysAsnLysSerPheLysArgLeuAspGlnValGlyAlaHisLysValIleHisSerGluAspLysProTyrLysCysLysLeuCysGlyLysGlyPheAlaHisArgAsnValTyrLysAsnHisLysLysThrHisSerGluGluArgProPheGlnCysGluGluCysLysAlaLeuPheArgThrProPheSerLeuGlnArgHisLeuLeuIleHisAsnSerGluArgThrPheLysCysHisHisCysAspAlaThrPheLysArgLysAspThrLeuAsnValHisValGlnValValHisGluArgHisLysLysTyrArgCysGluLeuCysAsnLysAlaPheValThrProSerValLeuArgSerHisLysLysThrHisThrGlyGluLysGluLysIleCysProTyrCysGlyGlnLysPheAlaSerSerGlyThrLeuArgValHisIleArgSerHisThrGlyGluArgProTyrGlnCysProTyrCysGluLysGlyPheSerLysAsnAspGlyLeuLysMetHisIleArgThrHisThrArgGluLysProTyrLysCysSerGluCysSerLysAlaPheSerGlnLysArgGlyLeuAspGluHisLysArgThrHisThrGlyGluLysProPheGlnCysAspValCysAspLeuAlaPheSerLeuLysLysMetLeuIleArgHisLysMetThrHisAsnProAsnArgProLeuAlaGluCysGlnPheCysHisLysLysPheThrArgAsnAspTyrLeuLysValHisMetAspAsnIleHisGlyValAlaAspSerTer"
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    },
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      "coordinates": [
        {
          "allele": "T",
          "end": 548,
          "referenceAllele": "G",
          "start": 547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009349",
      "geneNCBI_id": 11107,
      "geneSymbol": "PRDM5",
      "hgvs": [
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "XP_005262765.1:p.Glu103_Leu346delinsAsnIlePheTyrLeuAlaValGluAspIleGluThrAspThrGluLeuLeuIleGlyTyrLeuAspSerAspMetGluAlaGluGluGluGluGlnGlnIleMetThrValIleLysGluGlyGluValGluAsnSerArgArgGlnSerThrAlaGlyArgLysAspArgLeuGlyCysLysGluAspTyrAlaCysProGlnCysGluSerSerPheThrSerGluAspIleLeuAlaGluHisLeuGlnThrLeuHisGlnLysProThrGluGluLysGluPheLysCysLysAsnCysGlyLysLysPheProValLysGlnAlaLeuGlnArgHisValLeuGlnCysThrAlaLysSerSerLeuLysGluSerSerArgSerPheGlnCysSerValCysAsnSerSerPheSerSerAlaSerSerPheGluGlnHisGlnGluThrCysArgGlyAspAlaArgPheValCysLysAlaAspSerCysGlyLysArgLeuLysSerLysAspAlaLeuLysArgHisGlnGluAsnValHisThrGlyAspProLysLysLysLeuIleCysSerValCysAsnLysLysCysSerSerAlaSerSerLeuGlnGluHisArgLysIleHisGluIlePheAspCysGlnGluCysMetLysLysPheIleSerAlaAsnGlnLeuLysArgHisMetIleThrHisSerAspProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063533"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 548,
          "referenceAllele": "G",
          "start": 547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009349",
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      "geneSymbol": "PRDM5",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098597"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 548,
          "referenceAllele": "G",
          "start": 547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009349",
      "geneNCBI_id": 11107,
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        "hgvsWellDefined": "XP_011529865.1:p.Glu103_Ser610delinsAsnIlePheTyrLeuAlaValGluAspIleGluThrAspThrGluLeuLeuIleGlyTyrLeuAspSerAspMetGluAlaGluGluGluGluGlnGlnIleMetThrValIleLysGluGlyGluValGluAsnSerArgArgGlnSerThrAlaGlyArgLysAspArgLeuGlyCysLysGluAspTyrAlaCysProGlnCysGluSerSerPheThrSerGluAspIleLeuAlaGluHisLeuGlnThrLeuHisGlnLysProThrGluGluLysGluPheLysCysLysAsnCysGlyLysLysPheProValLysGlnAlaLeuGlnArgHisPheGluGlnHisGlnGluThrCysArgGlyAspAlaArgPheValCysLysAlaAspSerCysGlyLysArgLeuLysSerLysAspAlaLeuLysArgHisGlnGluAsnValHisThrGlyAspProLysLysLysLeuIleCysSerValCysAsnLysLysCysSerSerAlaSerSerLeuGlnGluHisArgLysIleHisGluIlePheAspCysGlnGluCysMetLysLysPheIleSerAlaAsnGlnLeuLysArgHisMetIleThrHisSerAspMetArgLeuSerProLeuIlePheLeuIleGluLysArgProTyrAsnCysGluIleCysAsnLysSerPheLysArgLeuAspGlnValGlyAlaHisLysValIleHisSerGluAspLysProTyrLysCysLysLeuCysGlyLysGlyPheAlaHisArgAsnValTyrLysAsnHisLysLysThrHisSerGluGluArgProPheGlnCysGluGluCysLysAlaLeuPheArgThrProPheSerLeuGlnArgHisLeuLeuIleHisAsnSerGluArgThrPheLysCysHisHisCysAspAlaThrPheLysArgLysAspThrLeuAsnValHisValGlnValValHisGluArgHisLysLysTyrArgCysGluLeuCysAsnLysAlaPheValThrProSerValLeuArgSerHisLysLysThrHisThrGlyGluLysGluLysIleCysProTyrCysGlyGlnLysPheAlaSerSerGlyThrLeuArgValHisIleArgSerHisThrGlyGluArgProTyrGlnCysProTyrCysGluLysGlyPheSerLysAsnAspGlyLeuLysMetHisIleArgThrHisThrArgGluLysProTyrLysCysSerGluCysSerLysAlaPheSerGlnLysArgGlyLeuAspGluHisLysArgThrHisThrGlyGluLysProPheGlnCysAspValCysAspLeuAlaPheSerLeuLysLysMetLeuIleArgHisLysMetThrHisAsnProAsnArgProLeuAlaGluCysGlnPheCysHisLysLysPheThrArgAsnAspTyrLeuLysValHisMetAspAsnIleHisGlyValAlaAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098598"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 548,
          "referenceAllele": "G",
          "start": 547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009349",
      "geneNCBI_id": 11107,
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011529866.1:p.Glu103_Ser606delinsAsnIlePheTyrLeuAlaValGluAspIleGluThrAspThrGluLeuLeuIleGlyTyrLeuAspSerAspMetGluAlaGluGluGluGluGlnGlnIleMetThrValIleLysGluGlyGluValGluAsnSerArgArgGlnSerThrAlaGlyArgLysAspArgLeuGlyCysLysGluAspTyrAlaCysProGlnCysGluSerSerPheThrSerGluAspIleLeuAlaGluHisLeuGlnThrLeuHisGlnLysProThrGluGluLysGluPheLysCysLysAsnCysGlyLysLysPheProValLysGlnAlaLeuGlnArgHisValLeuGlnCysThrAlaLysSerSerLeuLysGluSerSerArgSerPheGlnCysSerValCysAsnSerSerPheSerSerAlaSerSerPheGluGlnHisGlnGluThrCysArgGlyAspAlaArgPheValCysLysAlaAspSerCysGlyLysArgLeuLysSerLysAspAlaLeuLysArgHisGlnGluAsnValHisThrGlyAspProLysLysLysLeuIleCysSerValCysAsnLysLysCysSerSerAlaSerSerLeuGlnGluHisArgLysIleHisGluIlePheAspCysGlnGluCysMetLysLysPheIleSerAlaAsnGlnLeuLysArgHisMetIleThrHisSerAspMetArgLeuSerProLeuIlePheLeuIleGluLysArgProTyrAsnCysGluIleCysAsnLysSerPheLysArgLeuAspGlnValGlyAlaHisLysValIleHisSerGluAspLysProTyrLysCysLysLeuCysGlyLysGlyPheAlaHisArgAsnValTyrLysAsnHisLysLysThrHisSerGluGluArgProPheGlnCysGluGluCysLysAlaLeuPheArgThrProPheSerLeuGlnArgHisLeuLeuIleHisAsnSerGluArgThrPheLysCysHisHisCysAspAlaThrPheLysArgLysAspThrLeuAsnValHisValGlnValValHisGluArgHisLysLysTyrArgCysGluLeuCysAsnLysAlaPheValThrProSerValLeuArgSerHisLysLysThrHisThrGlyGluLysGluLysIleCysProTyrCysGlyGlnLysPheAlaSerSerGlyThrLeuArgValHisIleArgSerHisThrGlyGluArgProTyrGlnCysProTyrCysGluLysGlyPheSerLysAsnAspGlyLeuLysMetHisIleArgThrHisThrArgValCysAspLeuAlaPheSerLeuLysLysMetLeuIleArgHisLysMetThrHisAsnProAsnArgProLeuAlaGluCysGlnPheCysHisLysLysPheThrArgAsnAspTyrLeuLysValHisMetAspAsnIleHisGlyValAlaAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098599"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 548,
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          "start": 547
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      ],
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      "geneNCBI_id": 11107,
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011529867.1:p.Glu103_Phe589delinsAsnIlePheTyrLeuAlaValGluAspIleGluThrAspThrGluLeuLeuIleGlyTyrLeuAspSerAspMetGluAlaGluGluGluGluGlnGlnIleMetThrValIleLysGluGlyGluValGluAsnSerArgArgGlnSerThrAlaGlyArgLysAspArgLeuGlyCysLysGluAspTyrAlaCysProGlnCysGluSerSerPheThrSerGluAspIleLeuAlaGluHisLeuGlnThrLeuHisGlnLysProThrGluGluLysGluPheLysCysLysAsnCysGlyLysLysPheProValLysGlnAlaLeuGlnArgHisValLeuGlnCysThrAlaLysSerSerLeuLysGluSerSerArgSerPheGlnCysSerValCysAsnSerSerPheSerSerAlaSerSerPheGluGlnHisGlnGluThrCysArgGlyAspAlaArgPheValCysLysAlaAspSerCysGlyLysArgLeuLysSerLysAspAlaLeuLysArgHisGlnGluAsnValHisThrGlyAspProLysLysLysLeuIleCysSerValCysAsnLysLysCysSerSerAlaSerSerLeuGlnGluHisArgLysIleHisGluIlePheAspCysGlnGluCysMetLysLysPheIleSerAlaAsnGlnLeuLysArgHisMetIleThrHisSerAspMetArgLeuSerProLeuIlePheLeuIleGluLysArgProTyrAsnCysGluIleCysAsnLysSerPheLysArgLeuAspGlnValGlyAlaHisLysValIleHisSerGluAspLysProTyrLysCysLysLeuCysGlyLysGlyPheAlaHisArgAsnValTyrLysAsnHisLysLysThrHisSerGluGluArgProPheGlnCysGluGluCysLysAlaLeuPheArgThrProPheSerLeuGlnArgHisLeuLeuIleHisAsnSerGluArgThrPheLysCysHisHisCysAspAlaThrPheLysArgLysAspThrLeuAsnValHisValGlnValValHisGluArgHisLysLysTyrArgCysGluLeuCysAsnLysAlaPheValThrProSerValLeuArgSerHisLysLysThrHisThrGlyGluLysGluLysIleCysProTyrCysGlyGlnLysPheAlaSerSerGlyThrLeuArgValHisIleArgSerHisThrGlyGluArgProTyrGlnCysProTyrCysGluLysGlyPheSerLysAsnAspGlyLeuLysMetHisIleArgThrHisThrArgGluLysProTyrLysCysSerGluCysSerLysAlaPheSerGlnLysArgGlyLeuAspGluHisLysArgThrHisThrGlyGluLysProPheGlnCysAspTyrPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098600"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 548,
          "referenceAllele": "G",
          "start": 547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009349",
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011529868.1:p.Glu103_His589delinsAsnIlePheTyrLeuAlaValGluAspIleGluThrAspThrGluLeuLeuIleGlyTyrLeuAspSerAspMetGluAlaGluGluGluGluGlnGlnIleMetThrValIleLysGluGlyGluValGluAsnSerArgArgGlnSerThrAlaGlyArgLysAspArgLeuGlyCysLysGluAspTyrAlaCysProGlnCysGluSerSerPheThrSerGluAspIleLeuAlaGluHisLeuGlnThrLeuHisGlnLysProThrGluGluLysGluPheLysCysLysAsnCysGlyLysLysPheProValLysGlnAlaLeuGlnArgHisValLeuGlnCysThrAlaLysSerSerLeuLysGluSerSerArgSerPheGlnCysSerValCysAsnSerSerPheSerSerAlaSerSerPheGluGlnHisGlnGluThrCysArgGlyAspAlaArgPheValCysLysAlaAspSerCysGlyLysArgLeuLysSerLysAspAlaLeuLysArgHisGlnGluAsnValHisThrGlyAspProLysLysLysLeuIleCysSerValCysAsnLysLysCysSerSerAlaSerSerLeuGlnGluHisArgLysIleHisGluIlePheAspCysGlnGluCysMetLysLysPheIleSerAlaAsnGlnLeuLysArgHisMetIleThrHisSerAspMetArgLeuSerProLeuIlePheLeuIleGluLysArgProTyrAsnCysGluIleCysAsnLysSerPheLysArgLeuAspGlnValGlyAlaHisLysValIleHisSerGluAspLysProTyrLysCysLysLeuCysGlyLysGlyPheAlaHisArgAsnValTyrLysAsnHisLysLysThrHisSerGluGluArgProPheGlnCysGluGluCysLysAlaLeuPheArgThrProPheSerLeuGlnArgHisLeuLeuIleHisAsnSerGluArgThrPheLysCysHisHisCysAspAlaThrPheLysArgLysAspThrLeuAsnValHisValGlnValValHisGluArgHisLysLysTyrArgCysGluLeuCysAsnLysAlaPheValThrProSerValLeuArgSerHisLysLysThrHisThrGlyGluLysGluLysIleCysProTyrCysGlyGlnLysPheAlaSerSerGlyThrLeuArgValHisIleArgSerHisThrGlyGluArgProTyrGlnCysProTyrCysGluLysGlyPheSerLysAsnAspGlyLeuLysMetHisIleArgThrHisThrArgGluLysProTyrLysCysSerGluCysSerLysAlaPheSerGlnLysArgGlyLeuAspGluHisLysArgThrHisThrGlyGluLysProPheGlnCysAspThrHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098601"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 548,
          "referenceAllele": "G",
          "start": 547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009349",
      "geneNCBI_id": 11107,
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      "hgvs": [
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098602"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 548,
          "referenceAllele": "G",
          "start": 547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009349",
      "geneNCBI_id": 11107,
      "geneSymbol": "PRDM5",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "XP_011529870.1:p.Glu103Ter",
        "hgvsWellDefined": "XP_011529870.1:p.Glu103_Gly543delinsAsnIlePheTyrLeuAlaValGluAspIleGluThrAspThrGluLeuLeuIleGlyTyrLeuAspSerAspMetGluAlaGluGluGluGluGlnGlnIleMetThrValIleLysGluGlyGluValGluAsnSerArgArgGlnSerThrAlaGlyArgLysAspArgLeuGlyCysLysGluAspTyrAlaCysProGlnCysGluSerSerPheThrSerGluAspIleLeuAlaGluHisLeuGlnThrLeuHisGlnLysProThrGluGluLysGluPheLysCysLysAsnCysGlyLysLysPheProValLysGlnAlaLeuGlnArgHisValLeuGlnCysThrAlaLysSerSerLeuLysGluSerSerArgSerPheGlnCysSerValCysAsnSerSerPheSerSerAlaSerSerPheGluGlnHisGlnGluThrCysArgGlyAspAlaArgPheValCysLysAlaAspSerCysGlyLysArgLeuLysSerLysAspAlaLeuLysArgHisGlnGluAsnValHisThrGlyAspProLysLysLysLeuIleCysSerValCysAsnLysLysCysSerSerAlaSerSerLeuGlnGluHisArgLysIleHisGluIlePheAspCysGlnGluCysMetLysLysPheIleSerAlaAsnGlnLeuLysArgHisMetIleThrHisSerAspMetArgLeuSerProLeuIlePheLeuIleGluLysArgProTyrAsnCysGluIleCysAsnLysSerPheLysArgLeuAspGlnValGlyAlaHisLysValIleHisSerGluAspLysProTyrLysCysLysLeuCysGlyLysGlyPheAlaHisArgAsnValTyrLysAsnHisLysLysThrHisSerGluGluArgProPheGlnCysGluGluCysLysAlaLeuPheArgThrProPheSerLeuGlnArgHisLeuLeuIleHisAsnSerGluArgThrPheLysCysHisHisCysAspAlaThrPheLysArgLysAspThrLeuAsnValHisValGlnValValHisGluArgHisLysLysTyrArgCysGluLeuCysAsnLysAlaPheValThrProSerValLeuArgSerHisLysLysThrHisThrGlyGluLysGluLysIleCysProTyrCysGlyGlnLysPheAlaSerSerGlyThrLeuArgValHisIleArgSerHisThrGlyGluAlaValGlnValLeuArgValGlnGlnGlyLeuGlnProGluAlaArgProGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098603"
    },
    {
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS550440"
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      "coordinates": [
        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS716890"
    },
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS721906"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828808279",
      "coordinates": [
        {
          "allele": "T",
          "end": 425,
          "referenceAllele": "G",
          "start": 424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009349",
      "geneNCBI_id": 11107,
      "geneSymbol": "PRDM5",
      "hgvs": [
        "NM_001379106.1:c.307G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366035.1:p.Glu103Ter",
        "hgvsWellDefined": "NP_001366035.1:p.Glu103_Ser564delinsAsnIlePheTyrLeuAlaValGluAspIleGluThrAspThrGluLeuLeuIleGlyTyrLeuAspSerAspMetGluAlaGluGluGluGluGlnGlnIleMetThrValIleLysGluGlyGluValGluAsnSerArgArgGlnSerThrAlaGlyArgLysAspArgLeuGlyCysLysGluAspTyrAlaCysProGlnCysGluSerSerPheThrSerGluAspIleLeuAlaGluHisLeuGlnThrLeuHisGlnLysProThrGluGluLysGluPheLysCysLysAsnCysGlyLysLysPheProValLysGlnAlaLeuGlnArgHisPheGluGlnHisGlnGluThrCysArgGlyAspAlaArgPheValCysLysAlaAspSerCysGlyLysArgLeuLysSerLysAspAlaLeuLysArgHisGlnGluAsnValHisThrGlyAspProLysLysLysLeuIleCysSerValCysAsnLysLysCysSerSerAlaSerSerLeuGlnGluHisArgLysIleHisGluIlePheAspCysGlnGluCysMetLysLysPheIleSerAlaAsnGlnLeuLysArgHisMetIleThrHisSerGluLysArgProTyrAsnCysGluIleCysAsnLysSerPheLysArgLeuAspGlnValGlyAlaHisLysValIleHisSerGluAspLysProTyrLysCysLysLeuCysGlyLysGlyPheAlaHisArgAsnValTyrLysAsnHisLysLysThrHisSerGluGluArgProPheGlnCysGluGluCysLysAlaLeuPheArgThrProPheSerLeuGlnArgHisLeuLeuIleHisAsnSerGluArgThrPheLysCysHisHisCysAspAlaThrPheLysArgLysAspThrLeuAsnValHisValGlnValValHisGluArgHisLysLysTyrArgCysGluLeuCysAsnLysAlaPheValThrProSerValLeuArgSerHisLysLysThrHisThrGlyGluLysGluLysIleCysProTyrCysGlyGlnLysPheAlaSerSerGlyThrLeuArgValHisIleArgSerHisThrGlyGluArgProTyrGlnCysProTyrCysGluLysGlyPheSerLysAsnAspGlyLeuLysMetHisIleArgThrHisThrArgValCysAspLeuAlaPheSerLeuLysLysMetLeuIleArgHisLysMetThrHisAsnProAsnArgProLeuAlaGluCysGlnPheCysHisLysLysPheThrArgAsnAspTyrLeuLysValHisMetAspAsnIleHisGlyValAlaAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721907"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741970044",
      "coordinates": [
        {
          "allele": "T",
          "end": 425,
          "referenceAllele": "G",
          "start": 424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009349",
      "geneNCBI_id": 11107,
      "geneSymbol": "PRDM5",
      "hgvs": [
        "NM_018699.4:c.307G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_061169.2:p.Glu103Ter",
        "hgvsWellDefined": "NP_061169.2:p.Glu103_Ser630delinsAsnIlePheTyrLeuAlaValGluAspIleGluThrAspThrGluLeuLeuIleGlyTyrLeuAspSerAspMetGluAlaGluGluGluGluGlnGlnIleMetThrValIleLysGluGlyGluValGluAsnSerArgArgGlnSerThrAlaGlyArgLysAspArgLeuGlyCysLysGluAspTyrAlaCysProGlnCysGluSerSerPheThrSerGluAspIleLeuAlaGluHisLeuGlnThrLeuHisGlnLysProThrGluGluLysGluPheLysCysLysAsnCysGlyLysLysPheProValLysGlnAlaLeuGlnArgHisValLeuGlnCysThrAlaLysSerSerLeuLysGluSerSerArgSerPheGlnCysSerValCysAsnSerSerPheSerSerAlaSerSerPheGluGlnHisGlnGluThrCysArgGlyAspAlaArgPheValCysLysAlaAspSerCysGlyLysArgLeuLysSerLysAspAlaLeuLysArgHisGlnGluAsnValHisThrGlyAspProLysLysLysLeuIleCysSerValCysAsnLysLysCysSerSerAlaSerSerLeuGlnGluHisArgLysIleHisGluIlePheAspCysGlnGluCysMetLysLysPheIleSerAlaAsnGlnLeuLysArgHisMetIleThrHisSerGluLysArgProTyrAsnCysGluIleCysAsnLysSerPheLysArgLeuAspGlnValGlyAlaHisLysValIleHisSerGluAspLysProTyrLysCysLysLeuCysGlyLysGlyPheAlaHisArgAsnValTyrLysAsnHisLysLysThrHisSerGluGluArgProPheGlnCysGluGluCysLysAlaLeuPheArgThrProPheSerLeuGlnArgHisLeuLeuIleHisAsnSerGluArgThrPheLysCysHisHisCysAspAlaThrPheLysArgLysAspThrLeuAsnValHisValGlnValValHisGluArgHisLysLysTyrArgCysGluLeuCysAsnLysAlaPheValThrProSerValLeuArgSerHisLysLysThrHisThrGlyGluLysGluLysIleCysProTyrCysGlyGlnLysPheAlaSerSerGlyThrLeuArgValHisIleArgSerHisThrGlyGluArgProTyrGlnCysProTyrCysGluLysGlyPheSerLysAsnAspGlyLeuLysMetHisIleArgThrHisThrArgGluLysProTyrLysCysSerGluCysSerLysAlaPheSerGlnLysArgGlyLeuAspGluHisLysArgThrHisThrGlyGluLysProPheGlnCysAspValCysAspLeuAlaPheSerLeuLysLysMetLeuIleArgHisLysMetThrHisAsnProAsnArgProLeuAlaGluCysGlnPheCysHisLysLysPheThrArgAsnAspTyrLeuLysValHisMetAspAsnIleHisGlyValAlaAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728353",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264808.8:c.307G>T"
          },
          "RefSeq": {
            "hgvs": "NM_018699.4:c.307G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264808.3:p.Glu103Ter"
          },
          "RefSeq": {
            "hgvs": "NP_061169.2:p.Glu103Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}