{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA344150900",
  "communityStandardTitle": [
    "NM_000069.3(CACNA1S):c.3975G>A (p.Trp1325Ter)"
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  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3114686[alleleid]",
        "alleleId": 3114686,
        "preferredName": "NM_000069.3(CACNA1S):c.3975G>A (p.Trp1325Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2953131",
        "RCV": [
          "RCV003810249"
        ],
        "variationId": 2953131
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.201020250C>T?assembly=hg19",
        "id": "chr1:g.201020250C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.201051122C>T?assembly=hg38",
        "id": "chr1:g.201051122C>T"
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    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2464447576",
        "rs": 2464447576
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    ]
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    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
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          "start": 201051121
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        "CM000663.2:g.201051122C>T"
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      "referenceGenome": "GRCh38",
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    },
    {
      "chromosome": "1",
      "coordinates": [
        {
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          "start": 201020249
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      ],
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
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          "end": 199286873,
          "referenceAllele": "C",
          "start": 199286872
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      ],
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        "NC_000001.9:g.199286873C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
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          "end": 66445,
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS001653"
    },
    {
      "coordinates": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS673532"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
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      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749587",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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            "hgvs": "ENST00000362061.4:c.3975G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000069.3:c.3975G>A"
          }
        },
        "protein": {
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            "hgvs": "ENSP00000355192.3:p.Trp1325Ter"
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          "RefSeq": {
            "hgvs": "NP_000060.2:p.Trp1325Ter"
          }
        }
      }
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    {
      "coordinates": [
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          "allele": "A",
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          "start": 4340
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      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "ENST00000679417.1:c.*3138G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506706.1:n.*3138G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779048"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1101,
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          "start": 1100
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      ],
      "gene": "http://reg.genome.network/gene/GN001397",
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      "geneSymbol": "CACNA1S",
      "hgvs": [
        "ENST00000680051.1:n.1101G>A"
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      "referenceSequence": "http://reg.genome.network/refseq/RS779672"
    },
    {
      "coordinates": [
        {
          "allele": "A",
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          "referenceAllele": "G",
          "start": 4087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "ENST00000680059.1:c.*1493G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504944.1:n.*1493G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779680"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4062,
          "referenceAllele": "G",
          "start": 4061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "ENST00000681078.1:c.3975G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506645.1:p.Trp1325Ter",
        "hgvsWellDefined": "ENSP00000506645.1:p.Trp1325_Ser1451delinsGlnGluIleLeuLeuAlaCysSerTyrGlyLysLeuCysAspProGluSerAspTyrAlaProGlyGluGluTyrThrCysGlyThrAsnPheAlaTyrTyrTyrPheIleSerPheTyrMetLeuCysAlaPheLeuValIleAsnLeuPheValAlaValIleMetAspAsnPheAspTyrLeuThrArgAspTrpSerIleLeuGlyProHisHisLeuAspGluPheLysAlaIleTrpAlaGluTyrAspProGluAlaLysGlyArgIleLysHisLeuAspValValThrLeuLeuArgArgIleGlnProProLeuGlyPheGlyLysPheCysProHisArgValAlaCysLysAspValLeuValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780691"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4111,
          "referenceAllele": "G",
          "start": 4110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "ENST00000681190.1:c.*157G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506428.1:n.*157G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780801"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4002,
          "referenceAllele": "G",
          "start": 4001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "ENST00000681874.1:c.3915G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505162.1:p.Trp1305Ter",
        "hgvsWellDefined": "ENSP00000505162.1:p.Trp1305_Leu1853delinsGlnGluIleLeuLeuAlaCysSerTyrGlyLysLeuCysAspProGluSerAspTyrAlaProGlyGluGluTyrThrCysGlyThrAsnPheAlaTyrTyrTyrPheIleSerPheTyrMetLeuCysAlaPheLeuValIleAsnLeuPheValAlaValIleMetAspAsnPheAspTyrLeuThrArgAspTrpSerIleLeuGlyProHisHisLeuAspGluPheLysAlaIleTrpAlaGluTyrAspProGluAlaLysGlyArgIleLysHisLeuAspValValThrLeuLeuArgArgIleGlnProProLeuGlyPheGlyLysPheCysProHisArgValAlaCysLysArgLeuValGlyMetAsnMetProLeuAsnSerAspGlyThrValThrPheAsnAlaThrLeuPheAlaLeuValArgThrAlaLeuLysIleLysThrGluGlyAsnPheGluGlnAlaAsnGluGluLeuArgAlaIleIleLysLysIleTrpLysArgThrSerMetLysLeuLeuAspGlnValIleProProIleGlyAspAspGluValThrValGlyLysPheTyrAlaThrPheLeuIleGlnGluHisPheArgLysPheMetLysArgGlnGluGluTyrTyrGlyTyrArgProLysLysAspIleValGlnIleGlnAlaGlyLeuArgThrIleGluGluGluAlaAlaProGluIleCysArgThrValSerGlyAspLeuAlaAlaGluGluGluLeuGluArgAlaMetValGluAlaAlaMetGluGluGlyIlePheArgArgThrGlyGlyLeuPheGlyGlnValAspAsnPheLeuGluArgThrAsnSerLeuProProValMetAlaAsnGlnArgProLeuGlnPheAlaGluIleGluMetGluGluMetGluSerProValPheLeuGluAspPheProGlnAspProArgThrAsnProLeuAlaArgAlaAsnThrAsnAsnAlaAsnAlaAsnValAlaTyrGlyAsnSerAsnHisSerAsnSerHisValPheSerSerValHisTyrGluArgGluPheProGluGluThrGluThrProAlaThrArgGlyArgAlaLeuGlyGlnProCysArgValLeuGlyProHisSerLysProCysValGluMetLeuLysGlyLeuLeuThrGlnArgAlaMetProArgGlyGlnAlaProProAlaProCysGlnCysProArgValGluSerSerMetProGluAspArgLysSerSerThrProGlySerLeuHisGluGluThrProHisSerArgSerThrArgGluAsnThrSerArgCysSerAlaProAlaThrAlaLeuLeuIleGlnLysAlaLeuValArgGlyGlyLeuGlyThrLeuAlaAlaAspAlaAsnPheIleMetAlaThrGlyGlnAlaLeuAlaAspAlaCysGlnMetGluProGluGluValGluIleMetAlaThrGluLeuLeuLysGlyArgGluAlaProGluGlyMetAlaSerSerLeuGlyCysLeuAsnLeuGlySerSerLeuGlySerLeuAspGlnHisGlnGlySerGlnGluThrLeuIleProProArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781475"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4202,
          "referenceAllele": "G",
          "start": 4201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "ENST00000362061.3:c.3975G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355192.3:p.Trp1325Ter",
        "hgvsWellDefined": "ENSP00000355192.3:p.Trp1325_Leu1873delinsGlnGluIleLeuLeuAlaCysSerTyrGlyLysLeuCysAspProGluSerAspTyrAlaProGlyGluGluTyrThrCysGlyThrAsnPheAlaTyrTyrTyrPheIleSerPheTyrMetLeuCysAlaPheLeuValIleAsnLeuPheValAlaValIleMetAspAsnPheAspTyrLeuThrArgAspTrpSerIleLeuGlyProHisHisLeuAspGluPheLysAlaIleTrpAlaGluTyrAspProGluAlaLysGlyArgIleLysHisLeuAspValValThrLeuLeuArgArgIleGlnProProLeuGlyPheGlyLysPheCysProHisArgValAlaCysLysArgLeuValGlyMetAsnMetProLeuAsnSerAspGlyThrValThrPheAsnAlaThrLeuPheAlaLeuValArgThrAlaLeuLysIleLysThrGluGlyAsnPheGluGlnAlaAsnGluGluLeuArgAlaIleIleLysLysIleTrpLysArgThrSerMetLysLeuLeuAspGlnValIleProProIleGlyAspAspGluValThrValGlyLysPheTyrAlaThrPheLeuIleGlnGluHisPheArgLysPheMetLysArgGlnGluGluTyrTyrGlyTyrArgProLysLysAspIleValGlnIleGlnAlaGlyLeuArgThrIleGluGluGluAlaAlaProGluIleCysArgThrValSerGlyAspLeuAlaAlaGluGluGluLeuGluArgAlaMetValGluAlaAlaMetGluGluGlyIlePheArgArgThrGlyGlyLeuPheGlyGlnValAspAsnPheLeuGluArgThrAsnSerLeuProProValMetAlaAsnGlnArgProLeuGlnPheAlaGluIleGluMetGluGluMetGluSerProValPheLeuGluAspPheProGlnAspProArgThrAsnProLeuAlaArgAlaAsnThrAsnAsnAlaAsnAlaAsnValAlaTyrGlyAsnSerAsnHisSerAsnSerHisValPheSerSerValHisTyrGluArgGluPheProGluGluThrGluThrProAlaThrArgGlyArgAlaLeuGlyGlnProCysArgValLeuGlyProHisSerLysProCysValGluMetLeuLysGlyLeuLeuThrGlnArgAlaMetProArgGlyGlnAlaProProAlaProCysGlnCysProArgValGluSerSerMetProGluAspArgLysSerSerThrProGlySerLeuHisGluGluThrProHisSerArgSerThrArgGluAsnThrSerArgCysSerAlaProAlaThrAlaLeuLeuIleGlnLysAlaLeuValArgGlyGlyLeuGlyThrLeuAlaAlaAspAlaAsnPheIleMetAlaThrGlyGlnAlaLeuAlaAspAlaCysGlnMetGluProGluGluValGluIleMetAlaThrGluLeuLeuLysGlyArgGluAlaProGluGlyMetAlaSerSerLeuGlyCysLeuAsnLeuGlySerSerLeuGlySerLeuAspGlnHisGlnGlySerGlnGluThrLeuIleProProArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247221"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4030,
          "referenceAllele": "G",
          "start": 4029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "ENST00000367338.7:c.3918G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356307.3:p.Trp1306Ter",
        "hgvsWellDefined": "ENSP00000356307.3:p.Trp1306_Leu1854delinsGlnGluIleLeuLeuAlaCysSerTyrGlyLysLeuCysAspProGluSerAspTyrAlaProGlyGluGluTyrThrCysGlyThrAsnPheAlaTyrTyrTyrPheIleSerPheTyrMetLeuCysAlaPheLeuValIleAsnLeuPheValAlaValIleMetAspAsnPheAspTyrLeuThrArgAspTrpSerIleLeuGlyProHisHisLeuAspGluPheLysAlaIleTrpAlaGluTyrAspProGluAlaLysGlyArgIleLysHisLeuAspValValThrLeuLeuArgArgIleGlnProProLeuGlyPheGlyLysPheCysProHisArgValAlaCysLysArgLeuValGlyMetAsnMetProLeuAsnSerAspGlyThrValThrPheAsnAlaThrLeuPheAlaLeuValArgThrAlaLeuLysIleLysThrGluGlyAsnPheGluGlnAlaAsnGluGluLeuArgAlaIleIleLysLysIleTrpLysArgThrSerMetLysLeuLeuAspGlnValIleProProIleGlyAspAspGluValThrValGlyLysPheTyrAlaThrPheLeuIleGlnGluHisPheArgLysPheMetLysArgGlnGluGluTyrTyrGlyTyrArgProLysLysAspIleValGlnIleGlnAlaGlyLeuArgThrIleGluGluGluAlaAlaProGluIleCysArgThrValSerGlyAspLeuAlaAlaGluGluGluLeuGluArgAlaMetValGluAlaAlaMetGluGluGlyIlePheArgArgThrGlyGlyLeuPheGlyGlnValAspAsnPheLeuGluArgThrAsnSerLeuProProValMetAlaAsnGlnArgProLeuGlnPheAlaGluIleGluMetGluGluMetGluSerProValPheLeuGluAspPheProGlnAspProArgThrAsnProLeuAlaArgAlaAsnThrAsnAsnAlaAsnAlaAsnValAlaTyrGlyAsnSerAsnHisSerAsnSerHisValPheSerSerValHisTyrGluArgGluPheProGluGluThrGluThrProAlaThrArgGlyArgAlaLeuGlyGlnProCysArgValLeuGlyProHisSerLysProCysValGluMetLeuLysGlyLeuLeuThrGlnArgAlaMetProArgGlyGlnAlaProProAlaProCysGlnCysProArgValGluSerSerMetProGluAspArgLysSerSerThrProGlySerLeuHisGluGluThrProHisSerArgSerThrArgGluAsnThrSerArgCysSerAlaProAlaThrAlaLeuLeuIleGlnLysAlaLeuValArgGlyGlyLeuGlyThrLeuAlaAlaAspAlaAsnPheIleMetAlaThrGlyGlnAlaLeuAlaAspAlaCysGlnMetGluProGluGluValGluIleMetAlaThrGluLeuLeuLysGlyArgGluAlaProGluGlyMetAlaSerSerLeuGlyCysLeuAsnLeuGlySerSerLeuGlySerLeuAspGlnHisGlnGlySerGlnGluThrLeuIleProProArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247424"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741811436",
      "coordinates": [
        {
          "allele": "A",
          "end": 4202,
          "referenceAllele": "G",
          "start": 4201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "NM_000069.2:c.3975G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000060.2:p.Trp1325Ter",
        "hgvsWellDefined": "NP_000060.2:p.Trp1325_Leu1873delinsGlnGluIleLeuLeuAlaCysSerTyrGlyLysLeuCysAspProGluSerAspTyrAlaProGlyGluGluTyrThrCysGlyThrAsnPheAlaTyrTyrTyrPheIleSerPheTyrMetLeuCysAlaPheLeuValIleAsnLeuPheValAlaValIleMetAspAsnPheAspTyrLeuThrArgAspTrpSerIleLeuGlyProHisHisLeuAspGluPheLysAlaIleTrpAlaGluTyrAspProGluAlaLysGlyArgIleLysHisLeuAspValValThrLeuLeuArgArgIleGlnProProLeuGlyPheGlyLysPheCysProHisArgValAlaCysLysArgLeuValGlyMetAsnMetProLeuAsnSerAspGlyThrValThrPheAsnAlaThrLeuPheAlaLeuValArgThrAlaLeuLysIleLysThrGluGlyAsnPheGluGlnAlaAsnGluGluLeuArgAlaIleIleLysLysIleTrpLysArgThrSerMetLysLeuLeuAspGlnValIleProProIleGlyAspAspGluValThrValGlyLysPheTyrAlaThrPheLeuIleGlnGluHisPheArgLysPheMetLysArgGlnGluGluTyrTyrGlyTyrArgProLysLysAspIleValGlnIleGlnAlaGlyLeuArgThrIleGluGluGluAlaAlaProGluIleCysArgThrValSerGlyAspLeuAlaAlaGluGluGluLeuGluArgAlaMetValGluAlaAlaMetGluGluGlyIlePheArgArgThrGlyGlyLeuPheGlyGlnValAspAsnPheLeuGluArgThrAsnSerLeuProProValMetAlaAsnGlnArgProLeuGlnPheAlaGluIleGluMetGluGluMetGluSerProValPheLeuGluAspPheProGlnAspProArgThrAsnProLeuAlaArgAlaAsnThrAsnAsnAlaAsnAlaAsnValAlaTyrGlyAsnSerAsnHisSerAsnSerHisValPheSerSerValHisTyrGluArgGluPheProGluGluThrGluThrProAlaThrArgGlyArgAlaLeuGlyGlnProCysArgValLeuGlyProHisSerLysProCysValGluMetLeuLysGlyLeuLeuThrGlnArgAlaMetProArgGlyGlnAlaProProAlaProCysGlnCysProArgValGluSerSerMetProGluAspArgLysSerSerThrProGlySerLeuHisGluGluThrProHisSerArgSerThrArgGluAsnThrSerArgCysSerAlaProAlaThrAlaLeuLeuIleGlnLysAlaLeuValArgGlyGlyLeuGlyThrLeuAlaAlaAspAlaAsnPheIleMetAlaThrGlyGlnAlaLeuAlaAspAlaCysGlnMetGluProGluGluValGluIleMetAlaThrGluLeuLeuLysGlyArgGluAlaProGluGlyMetAlaSerSerLeuGlyCysLeuAsnLeuGlySerSerLeuGlySerLeuAspGlnHisGlnGlySerGlnGluThrLeuIleProProArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006133"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4011,
          "referenceAllele": "G",
          "start": 4010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "XM_005245478.2:c.3918G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245535.1:p.Trp1306Ter",
        "hgvsWellDefined": "XP_005245535.1:p.Trp1306_Leu1854delinsGlnGluIleLeuLeuAlaCysSerTyrGlyLysLeuCysAspProGluSerAspTyrAlaProGlyGluGluTyrThrCysGlyThrAsnPheAlaTyrTyrTyrPheIleSerPheTyrMetLeuCysAlaPheLeuValIleAsnLeuPheValAlaValIleMetAspAsnPheAspTyrLeuThrArgAspTrpSerIleLeuGlyProHisHisLeuAspGluPheLysAlaIleTrpAlaGluTyrAspProGluAlaLysGlyArgIleLysHisLeuAspValValThrLeuLeuArgArgIleGlnProProLeuGlyPheGlyLysPheCysProHisArgValAlaCysLysArgLeuValGlyMetAsnMetProLeuAsnSerAspGlyThrValThrPheAsnAlaThrLeuPheAlaLeuValArgThrAlaLeuLysIleLysThrGluGlyAsnPheGluGlnAlaAsnGluGluLeuArgAlaIleIleLysLysIleTrpLysArgThrSerMetLysLeuLeuAspGlnValIleProProIleGlyAspAspGluValThrValGlyLysPheTyrAlaThrPheLeuIleGlnGluHisPheArgLysPheMetLysArgGlnGluGluTyrTyrGlyTyrArgProLysLysAspIleValGlnIleGlnAlaGlyLeuArgThrIleGluGluGluAlaAlaProGluIleCysArgThrValSerGlyAspLeuAlaAlaGluGluGluLeuGluArgAlaMetValGluAlaAlaMetGluGluGlyIlePheArgArgThrGlyGlyLeuPheGlyGlnValAspAsnPheLeuGluArgThrAsnSerLeuProProValMetAlaAsnGlnArgProLeuGlnPheAlaGluIleGluMetGluGluMetGluSerProValPheLeuGluAspPheProGlnAspProArgThrAsnProLeuAlaArgAlaAsnThrAsnAsnAlaAsnAlaAsnValAlaTyrGlyAsnSerAsnHisSerAsnSerHisValPheSerSerValHisTyrGluArgGluPheProGluGluThrGluThrProAlaThrArgGlyArgAlaLeuGlyGlnProCysArgValLeuGlyProHisSerLysProCysValGluMetLeuLysGlyLeuLeuThrGlnArgAlaMetProArgGlyGlnAlaProProAlaProCysGlnCysProArgValGluSerSerMetProGluAspArgLysSerSerThrProGlySerLeuHisGluGluThrProHisSerArgSerThrArgGluAsnThrSerArgCysSerAlaProAlaThrAlaLeuLeuIleGlnLysAlaLeuValArgGlyGlyLeuGlyThrLeuAlaAlaAspAlaAsnPheIleMetAlaThrGlyGlnAlaLeuAlaAspAlaCysGlnMetGluProGluGluValGluIleMetAlaThrGluLeuLeuLysGlyArgGluAlaProGluGlyMetAlaSerSerLeuGlyCysLeuAsnLeuGlySerSerLeuGlySerLeuAspGlnHisGlnGlySerGlnGluThrLeuIleProProArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057238"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4032,
          "referenceAllele": "G",
          "start": 4031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "XM_005245478.3:c.3918G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245535.1:p.Trp1306Ter",
        "hgvsWellDefined": "XP_005245535.1:p.Trp1306_Leu1854delinsGlnGluIleLeuLeuAlaCysSerTyrGlyLysLeuCysAspProGluSerAspTyrAlaProGlyGluGluTyrThrCysGlyThrAsnPheAlaTyrTyrTyrPheIleSerPheTyrMetLeuCysAlaPheLeuValIleAsnLeuPheValAlaValIleMetAspAsnPheAspTyrLeuThrArgAspTrpSerIleLeuGlyProHisHisLeuAspGluPheLysAlaIleTrpAlaGluTyrAspProGluAlaLysGlyArgIleLysHisLeuAspValValThrLeuLeuArgArgIleGlnProProLeuGlyPheGlyLysPheCysProHisArgValAlaCysLysArgLeuValGlyMetAsnMetProLeuAsnSerAspGlyThrValThrPheAsnAlaThrLeuPheAlaLeuValArgThrAlaLeuLysIleLysThrGluGlyAsnPheGluGlnAlaAsnGluGluLeuArgAlaIleIleLysLysIleTrpLysArgThrSerMetLysLeuLeuAspGlnValIleProProIleGlyAspAspGluValThrValGlyLysPheTyrAlaThrPheLeuIleGlnGluHisPheArgLysPheMetLysArgGlnGluGluTyrTyrGlyTyrArgProLysLysAspIleValGlnIleGlnAlaGlyLeuArgThrIleGluGluGluAlaAlaProGluIleCysArgThrValSerGlyAspLeuAlaAlaGluGluGluLeuGluArgAlaMetValGluAlaAlaMetGluGluGlyIlePheArgArgThrGlyGlyLeuPheGlyGlnValAspAsnPheLeuGluArgThrAsnSerLeuProProValMetAlaAsnGlnArgProLeuGlnPheAlaGluIleGluMetGluGluMetGluSerProValPheLeuGluAspPheProGlnAspProArgThrAsnProLeuAlaArgAlaAsnThrAsnAsnAlaAsnAlaAsnValAlaTyrGlyAsnSerAsnHisSerAsnSerHisValPheSerSerValHisTyrGluArgGluPheProGluGluThrGluThrProAlaThrArgGlyArgAlaLeuGlyGlnProCysArgValLeuGlyProHisSerLysProCysValGluMetLeuLysGlyLeuLeuThrGlnArgAlaMetProArgGlyGlnAlaProProAlaProCysGlnCysProArgValGluSerSerMetProGluAspArgLysSerSerThrProGlySerLeuHisGluGluThrProHisSerArgSerThrArgGluAsnThrSerArgCysSerAlaProAlaThrAlaLeuLeuIleGlnLysAlaLeuValArgGlyGlyLeuGlyThrLeuAlaAlaAspAlaAsnPheIleMetAlaThrGlyGlnAlaLeuAlaAspAlaCysGlnMetGluProGluGluValGluIleMetAlaThrGluLeuLeuLysGlyArgGluAlaProGluGlyMetAlaSerSerLeuGlyCysLeuAsnLeuGlySerSerLeuGlySerLeuAspGlnHisGlnGlySerGlnGluThrLeuIleProProArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532434"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741811436",
      "coordinates": [
        {
          "allele": "A",
          "end": 4062,
          "referenceAllele": "G",
          "start": 4061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "NM_000069.3:c.3975G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000060.2:p.Trp1325Ter",
        "hgvsWellDefined": "NP_000060.2:p.Trp1325_Leu1873delinsGlnGluIleLeuLeuAlaCysSerTyrGlyLysLeuCysAspProGluSerAspTyrAlaProGlyGluGluTyrThrCysGlyThrAsnPheAlaTyrTyrTyrPheIleSerPheTyrMetLeuCysAlaPheLeuValIleAsnLeuPheValAlaValIleMetAspAsnPheAspTyrLeuThrArgAspTrpSerIleLeuGlyProHisHisLeuAspGluPheLysAlaIleTrpAlaGluTyrAspProGluAlaLysGlyArgIleLysHisLeuAspValValThrLeuLeuArgArgIleGlnProProLeuGlyPheGlyLysPheCysProHisArgValAlaCysLysArgLeuValGlyMetAsnMetProLeuAsnSerAspGlyThrValThrPheAsnAlaThrLeuPheAlaLeuValArgThrAlaLeuLysIleLysThrGluGlyAsnPheGluGlnAlaAsnGluGluLeuArgAlaIleIleLysLysIleTrpLysArgThrSerMetLysLeuLeuAspGlnValIleProProIleGlyAspAspGluValThrValGlyLysPheTyrAlaThrPheLeuIleGlnGluHisPheArgLysPheMetLysArgGlnGluGluTyrTyrGlyTyrArgProLysLysAspIleValGlnIleGlnAlaGlyLeuArgThrIleGluGluGluAlaAlaProGluIleCysArgThrValSerGlyAspLeuAlaAlaGluGluGluLeuGluArgAlaMetValGluAlaAlaMetGluGluGlyIlePheArgArgThrGlyGlyLeuPheGlyGlnValAspAsnPheLeuGluArgThrAsnSerLeuProProValMetAlaAsnGlnArgProLeuGlnPheAlaGluIleGluMetGluGluMetGluSerProValPheLeuGluAspPheProGlnAspProArgThrAsnProLeuAlaArgAlaAsnThrAsnAsnAlaAsnAlaAsnValAlaTyrGlyAsnSerAsnHisSerAsnSerHisValPheSerSerValHisTyrGluArgGluPheProGluGluThrGluThrProAlaThrArgGlyArgAlaLeuGlyGlnProCysArgValLeuGlyProHisSerLysProCysValGluMetLeuLysGlyLeuLeuThrGlnArgAlaMetProArgGlyGlnAlaProProAlaProCysGlnCysProArgValGluSerSerMetProGluAspArgLysSerSerThrProGlySerLeuHisGluGluThrProHisSerArgSerThrArgGluAsnThrSerArgCysSerAlaProAlaThrAlaLeuLeuIleGlnLysAlaLeuValArgGlyGlyLeuGlyThrLeuAlaAlaAspAlaAsnPheIleMetAlaThrGlyGlnAlaLeuAlaAspAlaCysGlnMetGluProGluGluValGluIleMetAlaThrGluLeuLeuLysGlyArgGluAlaProGluGlyMetAlaSerSerLeuGlyCysLeuAsnLeuGlySerSerLeuGlySerLeuAspGlnHisGlnGlySerGlnGluThrLeuIleProProArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662308",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000362061.4:c.3975G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000069.3:c.3975G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355192.3:p.Trp1325Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000060.2:p.Trp1325Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}