{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA395636326",
  "communityStandardTitle": [
    "NM_006662.3(SRCAP):c.8152C>T (p.Arg2718Ter)"
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  "externalRecords": {
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2875486[alleleid]",
        "alleleId": 2875486,
        "preferredName": "NM_006662.3(SRCAP):c.8152C>T (p.Arg2718Ter)"
      }
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    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2713188",
        "RCV": [
          "RCV003548303"
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        "variationId": 2713188
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.30749513C>T?assembly=hg19",
        "id": "chr16:g.30749513C>T"
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    "MyVariantInfo_hg38": [
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        "@id": "http://myvariant.info/v1/variant/chr16:g.30738192C>T?assembly=hg38",
        "id": "chr16:g.30738192C>T"
      }
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    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2506730506",
        "rs": 2506730506
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    "gnomAD_4": [
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        "@id": "http://gnomad.broadinstitute.org/variant/16-30738192-C-T?dataset=gnomad_r4",
        "id": "16-30738192-C-T",
        "variant": "16:30738192 C / T"
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      "referenceGenome": "GRCh38",
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    {
      "chromosome": "16",
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          "start": 30749512
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
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      "referenceSequence": "http://reg.genome.network/refseq/RS904687"
    },
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          "endIntronDirection": "+",
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    },
    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS912804"
    },
    {
      "coordinates": [
        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS742364",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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            "hgvs": "ENST00000262518.9:c.8152C>T"
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          "RefSeq": {
            "hgvs": "NM_006662.3:c.8152C>T"
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        "protein": {
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    {
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        {
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS251044"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7621,
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272893"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7585,
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      ],
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      "hgvs": [
        "ENST00000395059.6:c.7375C>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000378499.3:p.Arg2459_Thr2971delinsProProArgArgArgThrSerAlaAspValGluIleArgGlyGlnGlyThrGlyArgProGlyGlnProProGlyProLysValLeuArgLysLeuProGlyArgLeuValThrValValGluGluLysGluLeuValArgArgArgArgGlnGlnArgGlyAlaAlaSerThrLeuValProGlyValSerGluThrSerAlaSerProGlySerProSerValArgSerMetSerGlyProGluSerSerProProIleGlyGlyProCysGluAlaAlaProSerSerSerLeuProThrProProGlnGlnProPheIleAlaArgArgHisIleGluLeuGlyValThrGlyGlyGlySerProGluAsnGlyAspGlyAlaLeuLeuAlaIleThrProProAlaValLysArgArgArgGlyArgProProLysLysAsnArgSerProAlaAspAlaGlyArgGlyValAspGluAlaProSerSerThrLeuLysGlyLysThrAsnGlyAlaAspProValProGlyProGluThrLeuIleValAlaAspProValLeuGluProGlnLeuIleProGlyProGlnProLeuGlyProGlnProValHisArgProAsnProLeuLeuSerProValGluLysArgArgArgGlyArgProProLysAlaArgAspLeuProIleProGlyThrIleSerSerAlaGlyAspGlyAsnSerGluSerArgThrGlnProProProHisProSerProLeuThrProLeuProProLeuLeuValCysProThrAlaThrValAlaAsnThrValThrThrValThrIleSerThrSerProProLysArgLysArgGlyArgProProLysAsnProProSerProArgProSerGlnLeuProValLeuAspArgAspSerThrSerValLeuGluSerCysGlyLeuGlyArgArgArgGlnProGlnGlyGlnGlyGluSerGluGlySerSerSerAspGluAspGlySerArgProLeuThrArgLeuAlaArgLeuArgLeuGluAlaGluGlyMetArgGlyArgLysSerGlyGlySerMetValValAlaValIleGlnAspAspLeuAspLeuAlaAspSerGlyProGlyGlyLeuGluLeuThrProProValValSerLeuThrProLysLeuArgSerThrArgLeuArgProGlySerLeuValProProLeuGluThrGluLysLeuProArgLysArgAlaGlyAlaProValGlyGlySerProGlyLeuAlaLysArgGlyArgLeuGlnProProSerProLeuGlyProGluGlySerValGluGluSerGluAlaGluAlaSerGlyGluGluGluGluGlyAspGlyThrProArgArgArgProGlyProArgArgLeuValGlyThrThrAsnGlnGlyAspGlnArgIleLeuArgSerSerAlaProProSerLeuAlaGlyProAlaValSerHisArgGlyArgLysAlaLysThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276496"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741930503",
      "coordinates": [
        {
          "allele": "T",
          "end": 8537,
          "referenceAllele": "C",
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      ],
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_006653.2:p.Arg2718_Thr3230delinsProProArgArgArgThrSerAlaAspValGluIleArgGlyGlnGlyThrGlyArgProGlyGlnProProGlyProLysValLeuArgLysLeuProGlyArgLeuValThrValValGluGluLysGluLeuValArgArgArgArgGlnGlnArgGlyAlaAlaSerThrLeuValProGlyValSerGluThrSerAlaSerProGlySerProSerValArgSerMetSerGlyProGluSerSerProProIleGlyGlyProCysGluAlaAlaProSerSerSerLeuProThrProProGlnGlnProPheIleAlaArgArgHisIleGluLeuGlyValThrGlyGlyGlySerProGluAsnGlyAspGlyAlaLeuLeuAlaIleThrProProAlaValLysArgArgArgGlyArgProProLysLysAsnArgSerProAlaAspAlaGlyArgGlyValAspGluAlaProSerSerThrLeuLysGlyLysThrAsnGlyAlaAspProValProGlyProGluThrLeuIleValAlaAspProValLeuGluProGlnLeuIleProGlyProGlnProLeuGlyProGlnProValHisArgProAsnProLeuLeuSerProValGluLysArgArgArgGlyArgProProLysAlaArgAspLeuProIleProGlyThrIleSerSerAlaGlyAspGlyAsnSerGluSerArgThrGlnProProProHisProSerProLeuThrProLeuProProLeuLeuValCysProThrAlaThrValAlaAsnThrValThrThrValThrIleSerThrSerProProLysArgLysArgGlyArgProProLysAsnProProSerProArgProSerGlnLeuProValLeuAspArgAspSerThrSerValLeuGluSerCysGlyLeuGlyArgArgArgGlnProGlnGlyGlnGlyGluSerGluGlySerSerSerAspGluAspGlySerArgProLeuThrArgLeuAlaArgLeuArgLeuGluAlaGluGlyMetArgGlyArgLysSerGlyGlySerMetValValAlaValIleGlnAspAspLeuAspLeuAlaAspSerGlyProGlyGlyLeuGluLeuThrProProValValSerLeuThrProLysLeuArgSerThrArgLeuArgProGlySerLeuValProProLeuGluThrGluLysLeuProArgLysArgAlaGlyAlaProValGlyGlySerProGlyLeuAlaLysArgGlyArgLeuGlnProProSerProLeuGlyProGluGlySerValGluGluSerGluAlaGluAlaSerGlyGluGluGluGluGlyAspGlyThrProArgArgArgProGlyProArgArgLeuValGlyThrThrAsnGlnGlyAspGlnArgIleLeuArgSerSerAlaProProSerLeuAlaGlyProAlaValSerHisArgGlyArgLysAlaLysThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031659"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741930503",
      "coordinates": [
        {
          "allele": "T",
          "end": 8507,
          "referenceAllele": "C",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN016974",
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      "geneSymbol": "SRCAP",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "NP_006653.2:p.Arg2718Ter",
        "hgvsWellDefined": "NP_006653.2:p.Arg2718_Thr3230delinsProProArgArgArgThrSerAlaAspValGluIleArgGlyGlnGlyThrGlyArgProGlyGlnProProGlyProLysValLeuArgLysLeuProGlyArgLeuValThrValValGluGluLysGluLeuValArgArgArgArgGlnGlnArgGlyAlaAlaSerThrLeuValProGlyValSerGluThrSerAlaSerProGlySerProSerValArgSerMetSerGlyProGluSerSerProProIleGlyGlyProCysGluAlaAlaProSerSerSerLeuProThrProProGlnGlnProPheIleAlaArgArgHisIleGluLeuGlyValThrGlyGlyGlySerProGluAsnGlyAspGlyAlaLeuLeuAlaIleThrProProAlaValLysArgArgArgGlyArgProProLysLysAsnArgSerProAlaAspAlaGlyArgGlyValAspGluAlaProSerSerThrLeuLysGlyLysThrAsnGlyAlaAspProValProGlyProGluThrLeuIleValAlaAspProValLeuGluProGlnLeuIleProGlyProGlnProLeuGlyProGlnProValHisArgProAsnProLeuLeuSerProValGluLysArgArgArgGlyArgProProLysAlaArgAspLeuProIleProGlyThrIleSerSerAlaGlyAspGlyAsnSerGluSerArgThrGlnProProProHisProSerProLeuThrProLeuProProLeuLeuValCysProThrAlaThrValAlaAsnThrValThrThrValThrIleSerThrSerProProLysArgLysArgGlyArgProProLysAsnProProSerProArgProSerGlnLeuProValLeuAspArgAspSerThrSerValLeuGluSerCysGlyLeuGlyArgArgArgGlnProGlnGlyGlnGlyGluSerGluGlySerSerSerAspGluAspGlySerArgProLeuThrArgLeuAlaArgLeuArgLeuGluAlaGluGlyMetArgGlyArgLysSerGlyGlySerMetValValAlaValIleGlnAspAspLeuAspLeuAlaAspSerGlyProGlyGlyLeuGluLeuThrProProValValSerLeuThrProLysLeuArgSerThrArgLeuArgProGlySerLeuValProProLeuGluThrGluLysLeuProArgLysArgAlaGlyAlaProValGlyGlySerProGlyLeuAlaLysArgGlyArgLeuGlnProProSerProLeuGlyProGluGlySerValGluGluSerGluAlaGluAlaSerGlyGluGluGluGluGlyAspGlyThrProArgArgArgProGlyProArgArgLeuValGlyThrThrAsnGlnGlyAspGlnArgIleLeuArgSerSerAlaProProSerLeuAlaGlyProAlaValSerHisArgGlyArgLysAlaLysThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667564",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262518.9:c.8152C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006662.3:c.8152C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262518.4:p.Arg2718Ter"
          },
          "RefSeq": {
            "hgvs": "NP_006653.2:p.Arg2718Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}