{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA349342727",
  "communityStandardTitle": [
    "NM_001375834.1(WIPF1):c.587C>G (p.Ser196Ter)"
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  "externalRecords": {
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2978322[alleleid]",
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        "preferredName": "NM_001375834.1(WIPF1):c.587C>G (p.Ser196Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2821077",
        "RCV": [
          "RCV003643830"
        ],
        "variationId": 2821077
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.175436946G>C?assembly=hg19",
        "id": "chr2:g.175436946G>C"
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    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.174572218G>C?assembly=hg38",
        "id": "chr2:g.174572218G>C"
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    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2468475708",
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      }
    ]
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      "chromosome": "2",
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    },
    {
      "chromosome": "2",
      "coordinates": [
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    },
    {
      "chromosome": "2",
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        "LRG_374:g.115682C>G"
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    }
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    },
    {
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    {
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    },
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        "hgvsWellDefined": "ENSP00000513869.1:p.Ser197_Arg503delinsProHisAsnArgGlySerProProValProGlyGlyProArgGlnProSerProGlyProThrProProProPheProGlyAsnArgGlyThrAlaLeuGlyGlyGlySerIleArgGlnSerProLeuSerSerSerSerProPheSerAsnArgProProLeuProProThrProSerArgAlaLeuAspAspLysProProProProProProProValGlyAsnArgProSerIleHisArgGluAlaValProProProProProGlnAsnAsnLysProProValProSerThrProArgProSerAlaSerSerGlnAlaProProProProProProProSerArgProGlyProProProLeuProProSerSerSerGlyAsnAspGluThrProArgLeuProGlnArgAsnLeuSerLeuSerSerSerThrProProLeuProSerProGlyArgSerGlyProLeuProProProProSerGluArgProProProProValArgAspProProGlyArgSerGlyProLeuProProProProProValSerArgAsnGlySerThrSerArgAlaLeuProAlaThrProGlnLeuProSerArgSerGlyValAspSerProArgSerGlyProArgProProLeuProProAspArgProSerAlaGlyAlaProProProProProProSerThrSerIleArgAsnGlyPheGlnAspSerProCysGluAspGluTrpGluSerArgPheTyrPheHisProIleSerAspLeuProProProGluProTyrValGlnThrThrLysSerTyrProSerLysLeuAlaArgAsnGluSerArgSerGlySerAsnArgArgGluArgGlyAlaProProLeuProProIleProArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909621"
    },
    {
      "coordinates": [
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        "hgvsWellDefined": "ENSP00000513882.1:p.Ser197_Arg503delinsProHisAsnArgGlySerProProValProGlyGlyProArgGlnProSerProGlyProThrProProProPheProGlyAsnArgGlyThrAlaLeuGlyGlyGlySerIleArgGlnSerProLeuSerSerSerSerProPheSerAsnArgProProLeuProProThrProSerArgAlaLeuAspAspLysProProProProProProProValGlyAsnArgProSerIleHisArgGluAlaValProProProProProGlnAsnAsnLysProProValProSerThrProArgProSerAlaSerSerGlnAlaProProProProProProProSerArgProGlyProProProLeuProProSerSerSerGlyAsnAspGluThrProArgLeuProGlnArgAsnLeuSerLeuSerSerSerThrProProLeuProSerProGlyArgSerGlyProLeuProProProProSerGluArgProProProProValArgAspProProGlyArgSerGlyProLeuProProProProProValSerArgAsnGlySerThrSerArgAlaLeuProAlaThrProGlnLeuProSerArgSerGlyValAspSerProArgSerGlyProArgProProLeuProProAspArgProSerAlaGlyAlaProProProProProProSerThrSerIleArgAsnGlyPheGlnAspSerProCysGluAspGluTrpGluSerArgPheTyrPheHisProIleSerAspLeuProProProGluProTyrValGlnThrThrLysSerTyrProSerLysLeuAlaArgAsnGluSerArgSerGlySerAsnArgArgGluArgGlyAlaProProLeuProProIleProArgTer"
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      "referenceSequence": "http://reg.genome.network/refseq/RS909654"
    },
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        "hgvsWellDefined": "ENSP00000503603.1:p.Ser197_Arg503delinsProHisAsnArgGlySerProProValProGlyGlyProArgGlnProSerProGlyProThrProProProPheProGlyAsnArgGlyThrAlaLeuGlyGlyGlySerIleArgGlnSerProLeuSerSerSerSerProPheSerAsnArgProProLeuProProThrProSerArgAlaLeuAspAspLysProProProProProProProValGlyAsnArgProSerIleHisArgGluAlaValProProProProProGlnAsnAsnLysProProValProSerThrProArgProSerAlaSerSerGlnAlaProProProProProProProSerArgProGlyProProProLeuProProSerSerSerGlyAsnAspGluThrProArgLeuProGlnArgAsnLeuSerLeuSerSerSerThrProProLeuProSerProGlyArgSerGlyProLeuProProProProSerGluArgProProProProValArgAspProProGlyArgSerGlyProLeuProProProProProValSerArgAsnGlySerThrSerArgAlaLeuProAlaThrProGlnLeuProSerArgSerGlyValAspSerProArgSerGlyProArgProProLeuProProAspArgProSerAlaGlyAlaProProProProProProSerThrSerIleArgAsnGlyPheGlnAspSerProCysGluAspGluTrpGluSerArgPheTyrPheHisProIleSerAspLeuProProProGluProTyrValGlnThrThrLysSerTyrProSerLysLeuAlaArgAsnGluSerArgSerGlySerAsnArgArgGluArgGlyAlaProProLeuProProIleProArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778676",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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            "hgvs": "ENST00000679041.1:c.587C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001375834.1:c.587C>G"
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        },
        "protein": {
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          "RefSeq": {
            "hgvs": "NP_001362763.1:p.Ser196Ter"
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        }
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    {
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        "hgvsWellDefined": "ENSP00000272746.5:p.Ser197_Glu510delinsProHisAsnArgGlySerProProValProGlyGlyProArgGlnProSerProGlyProThrProProProPheProGlyAsnArgGlyThrAlaLeuGlyGlyGlySerIleArgGlnSerProLeuSerSerSerSerProPheSerAsnArgProProLeuProProThrProSerArgAlaLeuAspAspLysProProProProProProProValGlyAsnArgProSerIleHisArgGluAlaValProProProProProGlnAsnAsnLysProProValProSerThrProArgProSerAlaSerSerGlnAlaProProProProProProProSerArgProGlyProProProLeuProProSerSerSerGlyAsnAspGluThrProArgLeuProGlnArgAsnLeuSerLeuSerSerSerThrProProLeuProSerProGlyArgSerGlyProLeuProProProProSerGluArgProProProProValArgAspProProGlyArgSerGlyProLeuProProProProProValSerArgAsnGlySerThrSerArgAlaLeuProAlaThrProGlnLeuProSerArgSerGlyValAspSerProArgSerGlyProArgProProLeuProProAspArgProSerAlaGlyAlaProProProProProProSerThrSerIleArgAsnGlyPheGlnAspSerProCysGluAspGluTrpGluSerArgPheTyrPheHisProIleSerAspLeuProProProGluProTyrValGlnThrThrLysSerTyrProSerLysLeuAlaArgAsnGluSerArgSerGlySerAsnArgArgGluArgGlyAlaProProLeuProProIleProArgProProLysGlnAlaAlaGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252399"
    },
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000352802.3:p.Ser197_Arg503delinsProHisAsnArgGlySerProProValProGlyGlyProArgGlnProSerProGlyProThrProProProPheProGlyAsnArgGlyThrAlaLeuGlyGlyGlySerIleArgGlnSerProLeuSerSerSerSerProPheSerAsnArgProProLeuProProThrProSerArgAlaLeuAspAspLysProProProProProProProValGlyAsnArgProSerIleHisArgGluAlaValProProProProProGlnAsnAsnLysProProValProSerThrProArgProSerAlaSerSerGlnAlaProProProProProProProSerArgProGlyProProProLeuProProSerSerSerGlyAsnAspGluThrProArgLeuProGlnArgAsnLeuSerLeuSerSerSerThrProProLeuProSerProGlyArgSerGlyProLeuProProProProSerGluArgProProProProValArgAspProProGlyArgSerGlyProLeuProProProProProValSerArgAsnGlySerThrSerArgAlaLeuProAlaThrProGlnLeuProSerArgSerGlyValAspSerProArgSerGlyProArgProProLeuProProAspArgProSerAlaGlyAlaProProProProProProSerThrSerIleArgAsnGlyPheGlnAspSerProCysGluAspGluTrpGluSerArgPheTyrPheHisProIleSerAspLeuProProProGluProTyrValGlnThrThrLysSerTyrProSerLysLeuAlaArgAsnGluSerArgSerGlySerAsnArgArgGluArgGlyAlaProProLeuProProIleProArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264898"
    },
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        "hgvsWellDefined": "ENSP00000376329.2:p.Ser197_Arg503delinsProHisAsnArgGlySerProProValProGlyGlyProArgGlnProSerProGlyProThrProProProPheProGlyAsnArgGlyThrAlaLeuGlyGlyGlySerIleArgGlnSerProLeuSerSerSerSerProPheSerAsnArgProProLeuProProThrProSerArgAlaLeuAspAspLysProProProProProProProValGlyAsnArgProSerIleHisArgGluAlaValProProProProProGlnAsnAsnLysProProValProSerThrProArgProSerAlaSerSerGlnAlaProProProProProProProSerArgProGlyProProProLeuProProSerSerSerGlyAsnAspGluThrProArgLeuProGlnArgAsnLeuSerLeuSerSerSerThrProProLeuProSerProGlyArgSerGlyProLeuProProProProSerGluArgProProProProValArgAspProProGlyArgSerGlyProLeuProProProProProValSerArgAsnGlySerThrSerArgAlaLeuProAlaThrProGlnLeuProSerArgSerGlyValAspSerProArgSerGlyProArgProProLeuProProAspArgProSerAlaGlyAlaProProProProProProSerThrSerIleArgAsnGlyPheGlnAspSerProCysGluAspGluTrpGluSerArgPheTyrPheHisProIleSerAspLeuProProProGluProTyrValGlnThrThrLysSerTyrProSerLysLeuAlaArgAsnGluSerArgSerGlySerAsnArgArgGluArgGlyAlaProProLeuProProIleProArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275157"
    },
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        "hgvsWellDefined": "ENSP00000376330.2:p.Ser197_Arg503delinsProHisAsnArgGlySerProProValProGlyGlyProArgGlnProSerProGlyProThrProProProPheProGlyAsnArgGlyThrAlaLeuGlyGlyGlySerIleArgGlnSerProLeuSerSerSerSerProPheSerAsnArgProProLeuProProThrProSerArgAlaLeuAspAspLysProProProProProProProValGlyAsnArgProSerIleHisArgGluAlaValProProProProProGlnAsnAsnLysProProValProSerThrProArgProSerAlaSerSerGlnAlaProProProProProProProSerArgProGlyProProProLeuProProSerSerSerGlyAsnAspGluThrProArgLeuProGlnArgAsnLeuSerLeuSerSerSerThrProProLeuProSerProGlyArgSerGlyProLeuProProProProSerGluArgProProProProValArgAspProProGlyArgSerGlyProLeuProProProProProValSerArgAsnGlySerThrSerArgAlaLeuProAlaThrProGlnLeuProSerArgSerGlyValAspSerProArgSerGlyProArgProProLeuProProAspArgProSerAlaGlyAlaProProProProProProSerThrSerIleArgAsnGlyPheGlnAspSerProCysGluAspGluTrpGluSerArgPheTyrPheHisProIleSerAspLeuProProProGluProTyrValGlnThrThrLysSerTyrProSerLysLeuAlaArgAsnGluSerArgSerGlySerAsnArgArgGluArgGlyAlaProProLeuProProIleProArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275158"
    },
    {
      "coordinates": [
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          "allele": "G",
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      ],
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000387150.3:p.Ser197_Val403delinsProHisAsnArgGlySerProProValProGlyGlyProArgGlnProSerProGlyProThrProProProPheProGlyAsnArgGlyThrAlaLeuGlyGlyGlySerIleArgGlnSerProLeuSerSerSerSerProPheSerAsnArgProProLeuProProThrProSerArgAlaLeuAspAspLysProProProProProProProValGlyAsnArgProSerIleHisArgGluAlaValProProProProProGlnAsnAsnLysProProValProSerThrProArgProSerAlaSerSerGlnAlaProProProProProProProSerArgProGlyProProProLeuProProSerSerSerGlyAsnAspGluThrProArgLeuProGlnArgAsnLeuSerLeuSerSerSerThrProProLeuProSerProGlyArgSerGlyProLeuProProProProSerGluArgProProProProValArgAspProProGlyArgSerGlyMetThrArgArgGlyValSerCysPheGlnAsnProAlaCysProAsnValProIleIleLeuSerValLysIleValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281529"
    },
    {
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000386431.1:p.Ser197_Phe493delinsProHisAsnArgGlySerProProValProGlyGlyProArgGlnProSerProGlyProThrProProProPheProGlyAsnArgGlyThrAlaLeuGlyGlyGlySerIleArgGlnSerProLeuSerSerSerSerProPheSerAsnArgProProLeuProProThrProSerArgAlaLeuAspAspLysProProProProProProProValGlyAsnArgProSerIleHisArgGluAlaValProProProProProGlnAsnAsnLysProProValProSerThrProArgProSerAlaSerSerGlnAlaProProProProProProProSerArgProGlyProProProLeuProProSerSerSerGlyAsnAspGluThrProArgLeuProGlnArgAsnLeuSerLeuSerSerSerThrProProLeuProSerProGlyArgSerGlyProLeuProProProProSerGluArgProProProProValArgAspProProGlyArgSerGlyProLeuProProProProProValSerArgAsnGlySerThrSerArgAlaLeuProAlaThrProGlnLeuProSerArgSerGlyValAspSerProArgSerGlyProArgProProLeuProProAspArgProSerAlaGlyAlaProProProProProProSerThrSerIleArgAsnGlyPheGlnAspSerProCysGluAspGluTrpGluSerArgPheTyrPheHisProIleSerAspLeuProProProGluProTyrValGlnThrThrLysSerTyrProSerLysLeuAlaArgAsnGluSerArgSerGluTyrPheCysGlnGlyPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281940"
    },
    {
      "coordinates": [
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      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479992.1:p.Ser196Ter",
        "hgvsWellDefined": "ENSP00000479992.1:p.Ser197_Phe492delinsProHisAsnArgGlySerProProValProGlyGlyProArgGlnProSerProGlyProThrProProProPheProGlyAsnArgGlyThrAlaLeuGlyGlyGlySerIleArgGlnSerProLeuSerSerSerSerProPheSerAsnArgProProLeuProProThrProSerArgAlaLeuAspAspLysProProProProProProProValGlyAsnArgProSerIleHisArgGluAlaValProProProProProGlnAsnAsnLysProProValProSerThrProArgProSerAlaProHisArgProHisLeuArgProProProSerArgProGlyProProProLeuProProSerSerSerGlyAsnAspGluThrProArgLeuProGlnArgAsnLeuSerLeuSerSerSerThrProProLeuProSerProGlyArgSerGlyProLeuProProProProSerGluArgProProProProValArgAspProProGlyArgSerGlyProLeuProProProProProValSerArgAsnGlySerThrSerArgAlaLeuProAlaThrProGlnLeuProSerArgSerGlyValAspSerProArgSerGlyProArgProProLeuProProAspArgProSerAlaGlyAlaProProProProProProSerThrSerIleArgAsnGlyPheGlnAspSerProCysGluAspGluTrpGluSerArgPheTyrPheHisProIleSerAspLeuProProProGluProTyrValGlnThrThrLysSerTyrProSerLysLeuAlaArgAsnGluSerArgSerGluTyrPheCysGlnGlyPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400616"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825443537",
      "coordinates": [
        {
          "allele": "G",
          "end": 751,
          "referenceAllele": "C",
          "start": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012736",
      "geneNCBI_id": 7456,
      "geneSymbol": "WIPF1",
      "hgvs": [
        "NM_001077269.1:c.587C>G",
        "LRG_374t1:c.587C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070737.1:p.Ser196Ter",
        "hgvsWellDefined": "NP_001070737.1:p.Ser197_Arg503delinsProHisAsnArgGlySerProProValProGlyGlyProArgGlnProSerProGlyProThrProProProPheProGlyAsnArgGlyThrAlaLeuGlyGlyGlySerIleArgGlnSerProLeuSerSerSerSerProPheSerAsnArgProProLeuProProThrProSerArgAlaLeuAspAspLysProProProProProProProValGlyAsnArgProSerIleHisArgGluAlaValProProProProProGlnAsnAsnLysProProValProSerThrProArgProSerAlaSerSerGlnAlaProProProProProProProSerArgProGlyProProProLeuProProSerSerSerGlyAsnAspGluThrProArgLeuProGlnArgAsnLeuSerLeuSerSerSerThrProProLeuProSerProGlyArgSerGlyProLeuProProProProSerGluArgProProProProValArgAspProProGlyArgSerGlyProLeuProProProProProValSerArgAsnGlySerThrSerArgAlaLeuProAlaThrProGlnLeuProSerArgSerGlyValAspSerProArgSerGlyProArgProProLeuProProAspArgProSerAlaGlyAlaProProProProProProSerThrSerIleArgAsnGlyPheGlnAspSerProCysGluAspGluTrpGluSerArgPheTyrPheHisProIleSerAspLeuProProProGluProTyrValGlnThrThrLysSerTyrProSerLysLeuAlaArgAsnGluSerArgSerGlySerAsnArgArgGluArgGlyAlaProProLeuProProIleProArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009956"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829453423",
      "coordinates": [
        {
          "allele": "G",
          "end": 687,
          "referenceAllele": "C",
          "start": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012736",
      "geneNCBI_id": 7456,
      "geneSymbol": "WIPF1",
      "hgvs": [
        "NM_003387.4:c.587C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003378.3:p.Ser196Ter",
        "hgvsWellDefined": "NP_003378.3:p.Ser197_Arg503delinsProHisAsnArgGlySerProProValProGlyGlyProArgGlnProSerProGlyProThrProProProPheProGlyAsnArgGlyThrAlaLeuGlyGlyGlySerIleArgGlnSerProLeuSerSerSerSerProPheSerAsnArgProProLeuProProThrProSerArgAlaLeuAspAspLysProProProProProProProValGlyAsnArgProSerIleHisArgGluAlaValProProProProProGlnAsnAsnLysProProValProSerThrProArgProSerAlaSerSerGlnAlaProProProProProProProSerArgProGlyProProProLeuProProSerSerSerGlyAsnAspGluThrProArgLeuProGlnArgAsnLeuSerLeuSerSerSerThrProProLeuProSerProGlyArgSerGlyProLeuProProProProSerGluArgProProProProValArgAspProProGlyArgSerGlyProLeuProProProProProValSerArgAsnGlySerThrSerArgAlaLeuProAlaThrProGlnLeuProSerArgSerGlyValAspSerProArgSerGlyProArgProProLeuProProAspArgProSerAlaGlyAlaProProProProProProSerThrSerIleArgAsnGlyPheGlnAspSerProCysGluAspGluTrpGluSerArgPheTyrPheHisProIleSerAspLeuProProProGluProTyrValGlnThrThrLysSerTyrProSerLysLeuAlaArgAsnGluSerArgSerGlySerAsnArgArgGluArgGlyAlaProProLeuProProIleProArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028634"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 883,
          "referenceAllele": "C",
          "start": 882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012736",
      "geneNCBI_id": 7456,
      "geneSymbol": "WIPF1",
      "hgvs": [
        "XM_011511780.1:c.587C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510082.1:p.Ser196Ter",
        "hgvsWellDefined": "XP_011510082.1:p.Ser197_Arg503delinsProHisAsnArgGlySerProProValProGlyGlyProArgGlnProSerProGlyProThrProProProPheProGlyAsnArgGlyThrAlaLeuGlyGlyGlySerIleArgGlnSerProLeuSerSerSerSerProPheSerAsnArgProProLeuProProThrProSerArgAlaLeuAspAspLysProProProProProProProValGlyAsnArgProSerIleHisArgGluAlaValProProProProProGlnAsnAsnLysProProValProSerThrProArgProSerAlaSerSerGlnAlaProProProProProProProSerArgProGlyProProProLeuProProSerSerSerGlyAsnAspGluThrProArgLeuProGlnArgAsnLeuSerLeuSerSerSerThrProProLeuProSerProGlyArgSerGlyProLeuProProProProSerGluArgProProProProValArgAspProProGlyArgSerGlyProLeuProProProProProValSerArgAsnGlySerThrSerArgAlaLeuProAlaThrProGlnLeuProSerArgSerGlyValAspSerProArgSerGlyProArgProProLeuProProAspArgProSerAlaGlyAlaProProProProProProSerThrSerIleArgAsnGlyPheGlnAspSerProCysGluAspGluTrpGluSerArgPheTyrPheHisProIleSerAspLeuProProProGluProTyrValGlnThrThrLysSerTyrProSerLysLeuAlaArgAsnGluSerArgSerGlySerAsnArgArgGluArgGlyAlaProProLeuProProIleProArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079039"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 651,
          "referenceAllele": "C",
          "start": 650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012736",
      "geneNCBI_id": 7456,
      "geneSymbol": "WIPF1",
      "hgvs": [
        "XM_011511781.1:c.587C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510083.1:p.Ser196Ter",
        "hgvsWellDefined": "XP_011510083.1:p.Ser197_Arg503delinsProHisAsnArgGlySerProProValProGlyGlyProArgGlnProSerProGlyProThrProProProPheProGlyAsnArgGlyThrAlaLeuGlyGlyGlySerIleArgGlnSerProLeuSerSerSerSerProPheSerAsnArgProProLeuProProThrProSerArgAlaLeuAspAspLysProProProProProProProValGlyAsnArgProSerIleHisArgGluAlaValProProProProProGlnAsnAsnLysProProValProSerThrProArgProSerAlaSerSerGlnAlaProProProProProProProSerArgProGlyProProProLeuProProSerSerSerGlyAsnAspGluThrProArgLeuProGlnArgAsnLeuSerLeuSerSerSerThrProProLeuProSerProGlyArgSerGlyProLeuProProProProSerGluArgProProProProValArgAspProProGlyArgSerGlyProLeuProProProProProValSerArgAsnGlySerThrSerArgAlaLeuProAlaThrProGlnLeuProSerArgSerGlyValAspSerProArgSerGlyProArgProProLeuProProAspArgProSerAlaGlyAlaProProProProProProSerThrSerIleArgAsnGlyPheGlnAspSerProCysGluAspGluTrpGluSerArgPheTyrPheHisProIleSerAspLeuProProProGluProTyrValGlnThrThrLysSerTyrProSerLysLeuAlaArgAsnGluSerArgSerGlySerAsnArgArgGluArgGlyAlaProProLeuProProIleProArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079040"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 755,
          "referenceAllele": "C",
          "start": 754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012736",
      "geneNCBI_id": 7456,
      "geneSymbol": "WIPF1",
      "hgvs": [
        "XM_011511780.3:c.587C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510082.1:p.Ser196Ter",
        "hgvsWellDefined": "XP_011510082.1:p.Ser197_Arg503delinsProHisAsnArgGlySerProProValProGlyGlyProArgGlnProSerProGlyProThrProProProPheProGlyAsnArgGlyThrAlaLeuGlyGlyGlySerIleArgGlnSerProLeuSerSerSerSerProPheSerAsnArgProProLeuProProThrProSerArgAlaLeuAspAspLysProProProProProProProValGlyAsnArgProSerIleHisArgGluAlaValProProProProProGlnAsnAsnLysProProValProSerThrProArgProSerAlaSerSerGlnAlaProProProProProProProSerArgProGlyProProProLeuProProSerSerSerGlyAsnAspGluThrProArgLeuProGlnArgAsnLeuSerLeuSerSerSerThrProProLeuProSerProGlyArgSerGlyProLeuProProProProSerGluArgProProProProValArgAspProProGlyArgSerGlyProLeuProProProProProValSerArgAsnGlySerThrSerArgAlaLeuProAlaThrProGlnLeuProSerArgSerGlyValAspSerProArgSerGlyProArgProProLeuProProAspArgProSerAlaGlyAlaProProProProProProSerThrSerIleArgAsnGlyPheGlnAspSerProCysGluAspGluTrpGluSerArgPheTyrPheHisProIleSerAspLeuProProProGluProTyrValGlnThrThrLysSerTyrProSerLysLeuAlaArgAsnGluSerArgSerGlySerAsnArgArgGluArgGlyAlaProProLeuProProIleProArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542289"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828631921",
      "coordinates": [
        {
          "allele": "G",
          "end": 916,
          "referenceAllele": "C",
          "start": 915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012736",
      "geneNCBI_id": 7456,
      "geneSymbol": "WIPF1",
      "hgvs": [
        "NM_001375832.1:c.587C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362761.1:p.Ser196Ter",
        "hgvsWellDefined": "NP_001362761.1:p.Ser197_Arg503delinsProHisAsnArgGlySerProProValProGlyGlyProArgGlnProSerProGlyProThrProProProPheProGlyAsnArgGlyThrAlaLeuGlyGlyGlySerIleArgGlnSerProLeuSerSerSerSerProPheSerAsnArgProProLeuProProThrProSerArgAlaLeuAspAspLysProProProProProProProValGlyAsnArgProSerIleHisArgGluAlaValProProProProProGlnAsnAsnLysProProValProSerThrProArgProSerAlaSerSerGlnAlaProProProProProProProSerArgProGlyProProProLeuProProSerSerSerGlyAsnAspGluThrProArgLeuProGlnArgAsnLeuSerLeuSerSerSerThrProProLeuProSerProGlyArgSerGlyProLeuProProProProSerGluArgProProProProValArgAspProProGlyArgSerGlyProLeuProProProProProValSerArgAsnGlySerThrSerArgAlaLeuProAlaThrProGlnLeuProSerArgSerGlyValAspSerProArgSerGlyProArgProProLeuProProAspArgProSerAlaGlyAlaProProProProProProSerThrSerIleArgAsnGlyPheGlnAspSerProCysGluAspGluTrpGluSerArgPheTyrPheHisProIleSerAspLeuProProProGluProTyrValGlnThrThrLysSerTyrProSerLysLeuAlaArgAsnGluSerArgSerGlySerAsnArgArgGluArgGlyAlaProProLeuProProIleProArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693911"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828632148",
      "coordinates": [
        {
          "allele": "G",
          "end": 853,
          "referenceAllele": "C",
          "start": 852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012736",
      "geneNCBI_id": 7456,
      "geneSymbol": "WIPF1",
      "hgvs": [
        "NM_001375833.1:c.587C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362762.1:p.Ser196Ter",
        "hgvsWellDefined": "NP_001362762.1:p.Ser197_Arg503delinsProHisAsnArgGlySerProProValProGlyGlyProArgGlnProSerProGlyProThrProProProPheProGlyAsnArgGlyThrAlaLeuGlyGlyGlySerIleArgGlnSerProLeuSerSerSerSerProPheSerAsnArgProProLeuProProThrProSerArgAlaLeuAspAspLysProProProProProProProValGlyAsnArgProSerIleHisArgGluAlaValProProProProProGlnAsnAsnLysProProValProSerThrProArgProSerAlaSerSerGlnAlaProProProProProProProSerArgProGlyProProProLeuProProSerSerSerGlyAsnAspGluThrProArgLeuProGlnArgAsnLeuSerLeuSerSerSerThrProProLeuProSerProGlyArgSerGlyProLeuProProProProSerGluArgProProProProValArgAspProProGlyArgSerGlyProLeuProProProProProValSerArgAsnGlySerThrSerArgAlaLeuProAlaThrProGlnLeuProSerArgSerGlyValAspSerProArgSerGlyProArgProProLeuProProAspArgProSerAlaGlyAlaProProProProProProSerThrSerIleArgAsnGlyPheGlnAspSerProCysGluAspGluTrpGluSerArgPheTyrPheHisProIleSerAspLeuProProProGluProTyrValGlnThrThrLysSerTyrProSerLysLeuAlaArgAsnGluSerArgSerGlySerAsnArgArgGluArgGlyAlaProProLeuProProIleProArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693912"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828632375",
      "coordinates": [
        {
          "allele": "G",
          "end": 829,
          "referenceAllele": "C",
          "start": 828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012736",
      "geneNCBI_id": 7456,
      "geneSymbol": "WIPF1",
      "hgvs": [
        "NM_001375834.1:c.587C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362763.1:p.Ser196Ter",
        "hgvsWellDefined": "NP_001362763.1:p.Ser197_Arg503delinsProHisAsnArgGlySerProProValProGlyGlyProArgGlnProSerProGlyProThrProProProPheProGlyAsnArgGlyThrAlaLeuGlyGlyGlySerIleArgGlnSerProLeuSerSerSerSerProPheSerAsnArgProProLeuProProThrProSerArgAlaLeuAspAspLysProProProProProProProValGlyAsnArgProSerIleHisArgGluAlaValProProProProProGlnAsnAsnLysProProValProSerThrProArgProSerAlaSerSerGlnAlaProProProProProProProSerArgProGlyProProProLeuProProSerSerSerGlyAsnAspGluThrProArgLeuProGlnArgAsnLeuSerLeuSerSerSerThrProProLeuProSerProGlyArgSerGlyProLeuProProProProSerGluArgProProProProValArgAspProProGlyArgSerGlyProLeuProProProProProValSerArgAsnGlySerThrSerArgAlaLeuProAlaThrProGlnLeuProSerArgSerGlyValAspSerProArgSerGlyProArgProProLeuProProAspArgProSerAlaGlyAlaProProProProProProSerThrSerIleArgAsnGlyPheGlnAspSerProCysGluAspGluTrpGluSerArgPheTyrPheHisProIleSerAspLeuProProProGluProTyrValGlnThrThrLysSerTyrProSerLysLeuAlaArgAsnGluSerArgSerGlySerAsnArgArgGluArgGlyAlaProProLeuProProIleProArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693913",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000679041.1:c.587C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001375834.1:c.587C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000503603.1:p.Ser196Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001362763.1:p.Ser196Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828632602",
      "coordinates": [
        {
          "allele": "G",
          "end": 765,
          "referenceAllele": "C",
          "start": 764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012736",
      "geneNCBI_id": 7456,
      "geneSymbol": "WIPF1",
      "hgvs": [
        "NM_001375835.1:c.587C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362764.1:p.Ser196Ter",
        "hgvsWellDefined": "NP_001362764.1:p.Ser197_Glu510delinsProHisAsnArgGlySerProProValProGlyGlyProArgGlnProSerProGlyProThrProProProPheProGlyAsnArgGlyThrAlaLeuGlyGlyGlySerIleArgGlnSerProLeuSerSerSerSerProPheSerAsnArgProProLeuProProThrProSerArgAlaLeuAspAspLysProProProProProProProValGlyAsnArgProSerIleHisArgGluAlaValProProProProProGlnAsnAsnLysProProValProSerThrProArgProSerAlaSerSerGlnAlaProProProProProProProSerArgProGlyProProProLeuProProSerSerSerGlyAsnAspGluThrProArgLeuProGlnArgAsnLeuSerLeuSerSerSerThrProProLeuProSerProGlyArgSerGlyProLeuProProProProSerGluArgProProProProValArgAspProProGlyArgSerGlyProLeuProProProProProValSerArgAsnGlySerThrSerArgAlaLeuProAlaThrProGlnLeuProSerArgSerGlyValAspSerProArgSerGlyProArgProProLeuProProAspArgProSerAlaGlyAlaProProProProProProSerThrSerIleArgAsnGlyPheGlnAspSerProCysGluAspGluTrpGluSerArgPheTyrPheHisProIleSerAspLeuProProProGluProTyrValGlnThrThrLysSerTyrProSerLysLeuAlaArgAsnGluSerArgSerGlySerAsnArgArgGluArgGlyAlaProProLeuProProIleProArgProProLysGlnAlaAlaGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693914"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828632829",
      "coordinates": [
        {
          "allele": "G",
          "end": 765,
          "referenceAllele": "C",
          "start": 764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012736",
      "geneNCBI_id": 7456,
      "geneSymbol": "WIPF1",
      "hgvs": [
        "NM_001375836.1:c.587C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362765.1:p.Ser196Ter",
        "hgvsWellDefined": "NP_001362765.1:p.Ser197_Val403delinsProHisAsnArgGlySerProProValProGlyGlyProArgGlnProSerProGlyProThrProProProPheProGlyAsnArgGlyThrAlaLeuGlyGlyGlySerIleArgGlnSerProLeuSerSerSerSerProPheSerAsnArgProProLeuProProThrProSerArgAlaLeuAspAspLysProProProProProProProValGlyAsnArgProSerIleHisArgGluAlaValProProProProProGlnAsnAsnLysProProValProSerThrProArgProSerAlaSerSerGlnAlaProProProProProProProSerArgProGlyProProProLeuProProSerSerSerGlyAsnAspGluThrProArgLeuProGlnArgAsnLeuSerLeuSerSerSerThrProProLeuProSerProGlyArgSerGlyProLeuProProProProSerGluArgProProProProValArgAspProProGlyArgSerGlyMetThrArgArgGlyValSerCysPheGlnAsnProAlaCysProAsnValProIleIleLeuSerValLysIleValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693915"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828633010",
      "coordinates": [
        {
          "allele": "G",
          "end": 713,
          "referenceAllele": "C",
          "start": 712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012736",
      "geneNCBI_id": 7456,
      "geneSymbol": "WIPF1",
      "hgvs": [
        "NM_001375837.1:c.587C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362766.1:p.Ser196Ter",
        "hgvsWellDefined": "NP_001362766.1:p.Ser197_Val403delinsProHisAsnArgGlySerProProValProGlyGlyProArgGlnProSerProGlyProThrProProProPheProGlyAsnArgGlyThrAlaLeuGlyGlyGlySerIleArgGlnSerProLeuSerSerSerSerProPheSerAsnArgProProLeuProProThrProSerArgAlaLeuAspAspLysProProProProProProProValGlyAsnArgProSerIleHisArgGluAlaValProProProProProGlnAsnAsnLysProProValProSerThrProArgProSerAlaSerSerGlnAlaProProProProProProProSerArgProGlyProProProLeuProProSerSerSerGlyAsnAspGluThrProArgLeuProGlnArgAsnLeuSerLeuSerSerSerThrProProLeuProSerProGlyArgSerGlyProLeuProProProProSerGluArgProProProProValArgAspProProGlyArgSerGlyMetThrArgArgGlyValSerCysPheGlnAsnProAlaCysProAsnValProIleIleLeuSerValLysIleValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693916"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828633191",
      "coordinates": [
        {
          "allele": "G",
          "end": 686,
          "referenceAllele": "C",
          "start": 685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012736",
      "geneNCBI_id": 7456,
      "geneSymbol": "WIPF1",
      "hgvs": [
        "NM_001375838.1:c.587C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362767.1:p.Ser196Ter",
        "hgvsWellDefined": "NP_001362767.1:p.Ser197_Val403delinsProHisAsnArgGlySerProProValProGlyGlyProArgGlnProSerProGlyProThrProProProPheProGlyAsnArgGlyThrAlaLeuGlyGlyGlySerIleArgGlnSerProLeuSerSerSerSerProPheSerAsnArgProProLeuProProThrProSerArgAlaLeuAspAspLysProProProProProProProValGlyAsnArgProSerIleHisArgGluAlaValProProProProProGlnAsnAsnLysProProValProSerThrProArgProSerAlaSerSerGlnAlaProProProProProProProSerArgProGlyProProProLeuProProSerSerSerGlyAsnAspGluThrProArgLeuProGlnArgAsnLeuSerLeuSerSerSerThrProProLeuProSerProGlyArgSerGlyProLeuProProProProSerGluArgProProProProValArgAspProProGlyArgSerGlyMetThrArgArgGlyValSerCysPheGlnAsnProAlaCysProAsnValProIleIleLeuSerValLysIleValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693917"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741876657",
      "coordinates": [
        {
          "allele": "G",
          "end": 335,
          "referenceAllele": "C",
          "start": 334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012736",
      "geneNCBI_id": 7456,
      "geneSymbol": "WIPF1",
      "hgvs": [
        "NM_001375839.1:c.209C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362768.1:p.Ser70Ter",
        "hgvsWellDefined": "NP_001362768.1:p.Ser71_Arg377delinsProHisAsnArgGlySerProProValProGlyGlyProArgGlnProSerProGlyProThrProProProPheProGlyAsnArgGlyThrAlaLeuGlyGlyGlySerIleArgGlnSerProLeuSerSerSerSerProPheSerAsnArgProProLeuProProThrProSerArgAlaLeuAspAspLysProProProProProProProValGlyAsnArgProSerIleHisArgGluAlaValProProProProProGlnAsnAsnLysProProValProSerThrProArgProSerAlaSerSerGlnAlaProProProProProProProSerArgProGlyProProProLeuProProSerSerSerGlyAsnAspGluThrProArgLeuProGlnArgAsnLeuSerLeuSerSerSerThrProProLeuProSerProGlyArgSerGlyProLeuProProProProSerGluArgProProProProValArgAspProProGlyArgSerGlyProLeuProProProProProValSerArgAsnGlySerThrSerArgAlaLeuProAlaThrProGlnLeuProSerArgSerGlyValAspSerProArgSerGlyProArgProProLeuProProAspArgProSerAlaGlyAlaProProProProProProSerThrSerIleArgAsnGlyPheGlnAspSerProCysGluAspGluTrpGluSerArgPheTyrPheHisProIleSerAspLeuProProProGluProTyrValGlnThrThrLysSerTyrProSerLysLeuAlaArgAsnGluSerArgSerGlySerAsnArgArgGluArgGlyAlaProProLeuProProIleProArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693918"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829453423",
      "coordinates": [
        {
          "allele": "G",
          "end": 713,
          "referenceAllele": "C",
          "start": 712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012736",
      "geneNCBI_id": 7456,
      "geneSymbol": "WIPF1",
      "hgvs": [
        "NM_003387.5:c.587C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003378.3:p.Ser196Ter",
        "hgvsWellDefined": "NP_003378.3:p.Ser197_Arg503delinsProHisAsnArgGlySerProProValProGlyGlyProArgGlnProSerProGlyProThrProProProPheProGlyAsnArgGlyThrAlaLeuGlyGlyGlySerIleArgGlnSerProLeuSerSerSerSerProPheSerAsnArgProProLeuProProThrProSerArgAlaLeuAspAspLysProProProProProProProValGlyAsnArgProSerIleHisArgGluAlaValProProProProProGlnAsnAsnLysProProValProSerThrProArgProSerAlaSerSerGlnAlaProProProProProProProSerArgProGlyProProProLeuProProSerSerSerGlyAsnAspGluThrProArgLeuProGlnArgAsnLeuSerLeuSerSerSerThrProProLeuProSerProGlyArgSerGlyProLeuProProProProSerGluArgProProProProValArgAspProProGlyArgSerGlyProLeuProProProProProValSerArgAsnGlySerThrSerArgAlaLeuProAlaThrProGlnLeuProSerArgSerGlyValAspSerProArgSerGlyProArgProProLeuProProAspArgProSerAlaGlyAlaProProProProProProSerThrSerIleArgAsnGlyPheGlnAspSerProCysGluAspGluTrpGluSerArgPheTyrPheHisProIleSerAspLeuProProProGluProTyrValGlnThrThrLysSerTyrProSerLysLeuAlaArgAsnGluSerArgSerGlySerAsnArgArgGluArgGlyAlaProProLeuProProIleProArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695810"
    }
  ],
  "type": "nucleotide"
}