{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA395636755",
  "communityStandardTitle": [
    "NM_006662.3(SRCAP):c.8242C>T (p.Arg2748Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=969950",
        "active": true,
        "id": "COSM969950"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=415489[alleleid]",
        "alleleId": 415489,
        "preferredName": "NM_006662.3(SRCAP):c.8242C>T (p.Arg2748Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/427015",
        "RCV": [
          "RCV000489465"
        ],
        "variationId": 427015
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.30749603C>T?assembly=hg19",
        "id": "chr16:g.30749603C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.30738282C>T?assembly=hg38",
        "id": "chr16:g.30738282C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1085307899",
        "rs": 1085307899
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 30738282,
          "referenceAllele": "C",
          "start": 30738281
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      ],
      "hgvs": [
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        "CM000678.2:g.30738282C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 30749603,
          "referenceAllele": "C",
          "start": 30749602
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      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
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          "end": 30657104,
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          "start": 30657103
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      "hgvs": [
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 44142,
          "referenceAllele": "C",
          "start": 44141
        }
      ],
      "hgvs": [
        "NG_032135.1:g.44142C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS005138"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8778,
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          "start": 8777
        }
      ],
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      "geneNCBI_id": 10847,
      "geneSymbol": "SRCAP",
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904687"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1758,
          "endIntronDirection": "+",
          "endIntronOffset": 327,
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          "start": 1758,
          "startIntronDirection": "+",
          "startIntronOffset": 326
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      "referenceSequence": "http://reg.genome.network/refseq/RS912135"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "C",
          "start": 8743
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      "gene": "http://reg.genome.network/gene/GN016974",
      "geneNCBI_id": 10847,
      "geneSymbol": "SRCAP",
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000516346.1:p.Arg2748_Thr3230delinsLysLeuProGlyArgLeuValThrValValGluGluLysGluLeuValArgArgArgArgGlnGlnArgGlyAlaAlaSerThrLeuValProGlyValSerGluThrSerAlaSerProGlySerProSerValArgSerMetSerGlyProGluSerSerProProIleGlyGlyProCysGluAlaAlaProSerSerSerLeuProThrProProGlnGlnProPheIleAlaArgArgHisIleGluLeuGlyValThrGlyGlyGlySerProGluAsnGlyAspGlyAlaLeuLeuAlaIleThrProProAlaValLysArgArgArgGlyArgProProLysLysAsnArgSerProAlaAspAlaGlyArgGlyValAspGluAlaProSerSerThrLeuLysGlyLysThrAsnGlyAlaAspProValProGlyProGluThrLeuIleValAlaAspProValLeuGluProGlnLeuIleProGlyProGlnProLeuGlyProGlnProValHisArgProAsnProLeuLeuSerProValGluLysArgArgArgGlyArgProProLysAlaArgAspLeuProIleProGlyThrIleSerSerAlaGlyAspGlyAsnSerGluSerArgThrGlnProProProHisProSerProLeuThrProLeuProProLeuLeuValCysProThrAlaThrValAlaAsnThrValThrThrValThrIleSerThrSerProProLysArgLysArgGlyArgProProLysAsnProProSerProArgProSerGlnLeuProValLeuAspArgAspSerThrSerValLeuGluSerCysGlyLeuGlyArgArgArgGlnProGlnGlyGlnGlyGluSerGluGlySerSerSerAspGluAspGlySerArgProLeuThrArgLeuAlaArgLeuArgLeuGluAlaGluGlyMetArgGlyArgLysSerGlyGlySerMetValValAlaValIleGlnAspAspLeuAspLeuAlaAspSerGlyProGlyGlyLeuGluLeuThrProProValValSerLeuThrProLysLeuArgSerThrArgLeuArgProGlySerLeuValProProLeuGluThrGluLysLeuProArgLysArgAlaGlyAlaProValGlyGlySerProGlyLeuAlaLysArgGlyArgLeuGlnProProSerProLeuGlyProGluGlySerValGluGluSerGluAlaGluAlaSerGlyGluGluGluGluGlyAspGlyThrProArgArgArgProGlyProArgArgLeuValGlyThrThrAsnGlnGlyAspGlnArgIleLeuArgSerSerAlaProProSerLeuAlaGlyProAlaValSerHisArgGlyArgLysAlaLysThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS912804"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "C",
          "start": 8596
        }
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      "geneSymbol": "SRCAP",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "ENSP00000262518.4:p.Arg2748Ter",
        "hgvsWellDefined": "ENSP00000262518.4:p.Arg2748_Thr3230delinsLysLeuProGlyArgLeuValThrValValGluGluLysGluLeuValArgArgArgArgGlnGlnArgGlyAlaAlaSerThrLeuValProGlyValSerGluThrSerAlaSerProGlySerProSerValArgSerMetSerGlyProGluSerSerProProIleGlyGlyProCysGluAlaAlaProSerSerSerLeuProThrProProGlnGlnProPheIleAlaArgArgHisIleGluLeuGlyValThrGlyGlyGlySerProGluAsnGlyAspGlyAlaLeuLeuAlaIleThrProProAlaValLysArgArgArgGlyArgProProLysLysAsnArgSerProAlaAspAlaGlyArgGlyValAspGluAlaProSerSerThrLeuLysGlyLysThrAsnGlyAlaAspProValProGlyProGluThrLeuIleValAlaAspProValLeuGluProGlnLeuIleProGlyProGlnProLeuGlyProGlnProValHisArgProAsnProLeuLeuSerProValGluLysArgArgArgGlyArgProProLysAlaArgAspLeuProIleProGlyThrIleSerSerAlaGlyAspGlyAsnSerGluSerArgThrGlnProProProHisProSerProLeuThrProLeuProProLeuLeuValCysProThrAlaThrValAlaAsnThrValThrThrValThrIleSerThrSerProProLysArgLysArgGlyArgProProLysAsnProProSerProArgProSerGlnLeuProValLeuAspArgAspSerThrSerValLeuGluSerCysGlyLeuGlyArgArgArgGlnProGlnGlyGlnGlyGluSerGluGlySerSerSerAspGluAspGlySerArgProLeuThrArgLeuAlaArgLeuArgLeuGluAlaGluGlyMetArgGlyArgLysSerGlyGlySerMetValValAlaValIleGlnAspAspLeuAspLeuAlaAspSerGlyProGlyGlyLeuGluLeuThrProProValValSerLeuThrProLysLeuArgSerThrArgLeuArgProGlySerLeuValProProLeuGluThrGluLysLeuProArgLysArgAlaGlyAlaProValGlyGlySerProGlyLeuAlaLysArgGlyArgLeuGlnProProSerProLeuGlyProGluGlySerValGluGluSerGluAlaGluAlaSerGlyGluGluGluGluGlyAspGlyThrProArgArgArgProGlyProArgArgLeuValGlyThrThrAsnGlnGlyAspGlnArgIleLeuArgSerSerAlaProProSerLeuAlaGlyProAlaValSerHisArgGlyArgLysAlaLysThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742364",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262518.9:c.8242C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006662.3:c.8242C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262518.4:p.Arg2748Ter"
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          "RefSeq": {
            "hgvs": "NP_006653.2:p.Arg2748Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8627,
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      ],
      "gene": "http://reg.genome.network/gene/GN016974",
      "geneNCBI_id": 10847,
      "geneSymbol": "SRCAP",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000262518.4:p.Arg2748_Thr3230delinsLysLeuProGlyArgLeuValThrValValGluGluLysGluLeuValArgArgArgArgGlnGlnArgGlyAlaAlaSerThrLeuValProGlyValSerGluThrSerAlaSerProGlySerProSerValArgSerMetSerGlyProGluSerSerProProIleGlyGlyProCysGluAlaAlaProSerSerSerLeuProThrProProGlnGlnProPheIleAlaArgArgHisIleGluLeuGlyValThrGlyGlyGlySerProGluAsnGlyAspGlyAlaLeuLeuAlaIleThrProProAlaValLysArgArgArgGlyArgProProLysLysAsnArgSerProAlaAspAlaGlyArgGlyValAspGluAlaProSerSerThrLeuLysGlyLysThrAsnGlyAlaAspProValProGlyProGluThrLeuIleValAlaAspProValLeuGluProGlnLeuIleProGlyProGlnProLeuGlyProGlnProValHisArgProAsnProLeuLeuSerProValGluLysArgArgArgGlyArgProProLysAlaArgAspLeuProIleProGlyThrIleSerSerAlaGlyAspGlyAsnSerGluSerArgThrGlnProProProHisProSerProLeuThrProLeuProProLeuLeuValCysProThrAlaThrValAlaAsnThrValThrThrValThrIleSerThrSerProProLysArgLysArgGlyArgProProLysAsnProProSerProArgProSerGlnLeuProValLeuAspArgAspSerThrSerValLeuGluSerCysGlyLeuGlyArgArgArgGlnProGlnGlyGlnGlyGluSerGluGlySerSerSerAspGluAspGlySerArgProLeuThrArgLeuAlaArgLeuArgLeuGluAlaGluGlyMetArgGlyArgLysSerGlyGlySerMetValValAlaValIleGlnAspAspLeuAspLeuAlaAspSerGlyProGlyGlyLeuGluLeuThrProProValValSerLeuThrProLysLeuArgSerThrArgLeuArgProGlySerLeuValProProLeuGluThrGluLysLeuProArgLysArgAlaGlyAlaProValGlyGlySerProGlyLeuAlaLysArgGlyArgLeuGlnProProSerProLeuGlyProGluGlySerValGluGluSerGluAlaGluAlaSerGlyGluGluGluGluGlyAspGlyThrProArgArgArgProGlyProArgArgLeuValGlyThrThrAsnGlnGlyAspGlnArgIleLeuArgSerSerAlaProProSerLeuAlaGlyProAlaValSerHisArgGlyArgLysAlaLysThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251044"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7711,
          "referenceAllele": "C",
          "start": 7710
        }
      ],
      "hgvs": [
        "ENST00000380361.7:c.7711C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369719.3:p.Arg2571Ter",
        "hgvsWellDefined": "ENSP00000369719.3:p.Arg2571_Thr3053delinsLysLeuProGlyArgLeuValThrValValGluGluLysGluLeuValArgArgArgArgGlnGlnArgGlyAlaAlaSerThrLeuValProGlyValSerGluThrSerAlaSerProGlySerProSerValArgSerMetSerGlyProGluSerSerProProIleGlyGlyProCysGluAlaAlaProSerSerSerLeuProThrProProGlnGlnProPheIleAlaArgArgHisIleGluLeuGlyValThrGlyGlyGlySerProGluAsnGlyAspGlyAlaLeuLeuAlaIleThrProProAlaValLysArgArgArgGlyArgProProLysLysAsnArgSerProAlaAspAlaGlyArgGlyValAspGluAlaProSerSerThrLeuLysGlyLysThrAsnGlyAlaAspProValProGlyProGluThrLeuIleValAlaAspProValLeuGluProGlnLeuIleProGlyProGlnProLeuGlyProGlnProValHisArgProAsnProLeuLeuSerProValGluLysArgArgArgGlyArgProProLysAlaArgAspLeuProIleProGlyThrIleSerSerAlaGlyAspGlyAsnSerGluSerArgThrGlnProProProHisProSerProLeuThrProLeuProProLeuLeuValCysProThrAlaThrValAlaAsnThrValThrThrValThrIleSerThrSerProProLysArgLysArgGlyArgProProLysAsnProProSerProArgProSerGlnLeuProValLeuAspArgAspSerThrSerValLeuGluSerCysGlyLeuGlyArgArgArgGlnProGlnGlyGlnGlyGluSerGluGlySerSerSerAspGluAspGlySerArgProLeuThrArgLeuAlaArgLeuArgLeuGluAlaGluGlyMetArgGlyArgLysSerGlyGlySerMetValValAlaValIleGlnAspAspLeuAspLeuAlaAspSerGlyProGlyGlyLeuGluLeuThrProProValValSerLeuThrProLysLeuArgSerThrArgLeuArgProGlySerLeuValProProLeuGluThrGluLysLeuProArgLysArgAlaGlyAlaProValGlyGlySerProGlyLeuAlaLysArgGlyArgLeuGlnProProSerProLeuGlyProGluGlySerValGluGluSerGluAlaGluAlaSerGlyGluGluGluGluGlyAspGlyThrProArgArgArgProGlyProArgArgLeuValGlyThrThrAsnGlnGlyAspGlnArgIleLeuArgSerSerAlaProProSerLeuAlaGlyProAlaValSerHisArgGlyArgLysAlaLysThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272893"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7675,
          "referenceAllele": "C",
          "start": 7674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016974",
      "geneNCBI_id": 10847,
      "geneSymbol": "SRCAP",
      "hgvs": [
        "ENST00000395059.6:c.7465C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378499.3:p.Arg2489Ter",
        "hgvsWellDefined": "ENSP00000378499.3:p.Arg2489_Thr2971delinsLysLeuProGlyArgLeuValThrValValGluGluLysGluLeuValArgArgArgArgGlnGlnArgGlyAlaAlaSerThrLeuValProGlyValSerGluThrSerAlaSerProGlySerProSerValArgSerMetSerGlyProGluSerSerProProIleGlyGlyProCysGluAlaAlaProSerSerSerLeuProThrProProGlnGlnProPheIleAlaArgArgHisIleGluLeuGlyValThrGlyGlyGlySerProGluAsnGlyAspGlyAlaLeuLeuAlaIleThrProProAlaValLysArgArgArgGlyArgProProLysLysAsnArgSerProAlaAspAlaGlyArgGlyValAspGluAlaProSerSerThrLeuLysGlyLysThrAsnGlyAlaAspProValProGlyProGluThrLeuIleValAlaAspProValLeuGluProGlnLeuIleProGlyProGlnProLeuGlyProGlnProValHisArgProAsnProLeuLeuSerProValGluLysArgArgArgGlyArgProProLysAlaArgAspLeuProIleProGlyThrIleSerSerAlaGlyAspGlyAsnSerGluSerArgThrGlnProProProHisProSerProLeuThrProLeuProProLeuLeuValCysProThrAlaThrValAlaAsnThrValThrThrValThrIleSerThrSerProProLysArgLysArgGlyArgProProLysAsnProProSerProArgProSerGlnLeuProValLeuAspArgAspSerThrSerValLeuGluSerCysGlyLeuGlyArgArgArgGlnProGlnGlyGlnGlyGluSerGluGlySerSerSerAspGluAspGlySerArgProLeuThrArgLeuAlaArgLeuArgLeuGluAlaGluGlyMetArgGlyArgLysSerGlyGlySerMetValValAlaValIleGlnAspAspLeuAspLeuAlaAspSerGlyProGlyGlyLeuGluLeuThrProProValValSerLeuThrProLysLeuArgSerThrArgLeuArgProGlySerLeuValProProLeuGluThrGluLysLeuProArgLysArgAlaGlyAlaProValGlyGlySerProGlyLeuAlaLysArgGlyArgLeuGlnProProSerProLeuGlyProGluGlySerValGluGluSerGluAlaGluAlaSerGlyGluGluGluGluGlyAspGlyThrProArgArgArgProGlyProArgArgLeuValGlyThrThrAsnGlnGlyAspGlnArgIleLeuArgSerSerAlaProProSerLeuAlaGlyProAlaValSerHisArgGlyArgLysAlaLysThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276496"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645486251",
      "coordinates": [
        {
          "allele": "T",
          "end": 8627,
          "referenceAllele": "C",
          "start": 8626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016974",
      "geneNCBI_id": 10847,
      "geneSymbol": "SRCAP",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_006653.2:p.Arg2748Ter",
        "hgvsWellDefined": "NP_006653.2:p.Arg2748_Thr3230delinsLysLeuProGlyArgLeuValThrValValGluGluLysGluLeuValArgArgArgArgGlnGlnArgGlyAlaAlaSerThrLeuValProGlyValSerGluThrSerAlaSerProGlySerProSerValArgSerMetSerGlyProGluSerSerProProIleGlyGlyProCysGluAlaAlaProSerSerSerLeuProThrProProGlnGlnProPheIleAlaArgArgHisIleGluLeuGlyValThrGlyGlyGlySerProGluAsnGlyAspGlyAlaLeuLeuAlaIleThrProProAlaValLysArgArgArgGlyArgProProLysLysAsnArgSerProAlaAspAlaGlyArgGlyValAspGluAlaProSerSerThrLeuLysGlyLysThrAsnGlyAlaAspProValProGlyProGluThrLeuIleValAlaAspProValLeuGluProGlnLeuIleProGlyProGlnProLeuGlyProGlnProValHisArgProAsnProLeuLeuSerProValGluLysArgArgArgGlyArgProProLysAlaArgAspLeuProIleProGlyThrIleSerSerAlaGlyAspGlyAsnSerGluSerArgThrGlnProProProHisProSerProLeuThrProLeuProProLeuLeuValCysProThrAlaThrValAlaAsnThrValThrThrValThrIleSerThrSerProProLysArgLysArgGlyArgProProLysAsnProProSerProArgProSerGlnLeuProValLeuAspArgAspSerThrSerValLeuGluSerCysGlyLeuGlyArgArgArgGlnProGlnGlyGlnGlyGluSerGluGlySerSerSerAspGluAspGlySerArgProLeuThrArgLeuAlaArgLeuArgLeuGluAlaGluGlyMetArgGlyArgLysSerGlyGlySerMetValValAlaValIleGlnAspAspLeuAspLeuAlaAspSerGlyProGlyGlyLeuGluLeuThrProProValValSerLeuThrProLysLeuArgSerThrArgLeuArgProGlySerLeuValProProLeuGluThrGluLysLeuProArgLysArgAlaGlyAlaProValGlyGlySerProGlyLeuAlaLysArgGlyArgLeuGlnProProSerProLeuGlyProGluGlySerValGluGluSerGluAlaGluAlaSerGlyGluGluGluGluGlyAspGlyThrProArgArgArgProGlyProArgArgLeuValGlyThrThrAsnGlnGlyAspGlnArgIleLeuArgSerSerAlaProProSerLeuAlaGlyProAlaValSerHisArgGlyArgLysAlaLysThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031659"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645486251",
      "coordinates": [
        {
          "allele": "T",
          "end": 8597,
          "referenceAllele": "C",
          "start": 8596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016974",
      "geneNCBI_id": 10847,
      "geneSymbol": "SRCAP",
      "hgvs": [
        "NM_006662.3:c.8242C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006653.2:p.Arg2748Ter",
        "hgvsWellDefined": "NP_006653.2:p.Arg2748_Thr3230delinsLysLeuProGlyArgLeuValThrValValGluGluLysGluLeuValArgArgArgArgGlnGlnArgGlyAlaAlaSerThrLeuValProGlyValSerGluThrSerAlaSerProGlySerProSerValArgSerMetSerGlyProGluSerSerProProIleGlyGlyProCysGluAlaAlaProSerSerSerLeuProThrProProGlnGlnProPheIleAlaArgArgHisIleGluLeuGlyValThrGlyGlyGlySerProGluAsnGlyAspGlyAlaLeuLeuAlaIleThrProProAlaValLysArgArgArgGlyArgProProLysLysAsnArgSerProAlaAspAlaGlyArgGlyValAspGluAlaProSerSerThrLeuLysGlyLysThrAsnGlyAlaAspProValProGlyProGluThrLeuIleValAlaAspProValLeuGluProGlnLeuIleProGlyProGlnProLeuGlyProGlnProValHisArgProAsnProLeuLeuSerProValGluLysArgArgArgGlyArgProProLysAlaArgAspLeuProIleProGlyThrIleSerSerAlaGlyAspGlyAsnSerGluSerArgThrGlnProProProHisProSerProLeuThrProLeuProProLeuLeuValCysProThrAlaThrValAlaAsnThrValThrThrValThrIleSerThrSerProProLysArgLysArgGlyArgProProLysAsnProProSerProArgProSerGlnLeuProValLeuAspArgAspSerThrSerValLeuGluSerCysGlyLeuGlyArgArgArgGlnProGlnGlyGlnGlyGluSerGluGlySerSerSerAspGluAspGlySerArgProLeuThrArgLeuAlaArgLeuArgLeuGluAlaGluGlyMetArgGlyArgLysSerGlyGlySerMetValValAlaValIleGlnAspAspLeuAspLeuAlaAspSerGlyProGlyGlyLeuGluLeuThrProProValValSerLeuThrProLysLeuArgSerThrArgLeuArgProGlySerLeuValProProLeuGluThrGluLysLeuProArgLysArgAlaGlyAlaProValGlyGlySerProGlyLeuAlaLysArgGlyArgLeuGlnProProSerProLeuGlyProGluGlySerValGluGluSerGluAlaGluAlaSerGlyGluGluGluGluGlyAspGlyThrProArgArgArgProGlyProArgArgLeuValGlyThrThrAsnGlnGlyAspGlnArgIleLeuArgSerSerAlaProProSerLeuAlaGlyProAlaValSerHisArgGlyArgLysAlaLysThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667564",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262518.9:c.8242C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006662.3:c.8242C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262518.4:p.Arg2748Ter"
          },
          "RefSeq": {
            "hgvs": "NP_006653.2:p.Arg2748Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}