{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA344150419",
  "communityStandardTitle": [
    "NM_000069.3(CACNA1S):c.4025C>A (p.Ser1342Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=627242[alleleid]",
        "alleleId": 627242,
        "preferredName": "NM_000069.3(CACNA1S):c.4025C>A (p.Ser1342Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/641633",
        "RCV": [
          "RCV000794912"
        ],
        "variationId": 641633
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.201020200G>T?assembly=hg19",
        "id": "chr1:g.201020200G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.201051072G>T?assembly=hg38",
        "id": "chr1:g.201051072G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/563795648",
        "rs": 563795648
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 201051072,
          "referenceAllele": "G",
          "start": 201051071
        }
      ],
      "hgvs": [
        "NC_000001.11:g.201051072G>T",
        "CM000663.2:g.201051072G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 201020200,
          "referenceAllele": "G",
          "start": 201020199
        }
      ],
      "hgvs": [
        "NC_000001.10:g.201020200G>T",
        "CM000663.1:g.201020200G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 199286823,
          "referenceAllele": "G",
          "start": 199286822
        }
      ],
      "hgvs": [
        "NC_000001.9:g.199286823G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 66495,
          "referenceAllele": "C",
          "start": 66494
        }
      ],
      "hgvs": [
        "NG_009816.1:g.66495C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001653"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 66495,
          "referenceAllele": "C",
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        }
      ],
      "hgvs": [
        "NG_009816.2:g.66495C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673532"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4112,
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          "start": 4111
        }
      ],
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      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "ENST00000362061.4:c.4025C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355192.3:p.Ser1342Ter",
        "hgvsWellDefined": "ENSP00000355192.3:p.Ser1342_Leu1873delinsAspTyrAlaProGlyGluGluTyrThrCysGlyThrAsnPheAlaTyrTyrTyrPheIleSerPheTyrMetLeuCysAlaPheLeuValIleAsnLeuPheValAlaValIleMetAspAsnPheAspTyrLeuThrArgAspTrpSerIleLeuGlyProHisHisLeuAspGluPheLysAlaIleTrpAlaGluTyrAspProGluAlaLysGlyArgIleLysHisLeuAspValValThrLeuLeuArgArgIleGlnProProLeuGlyPheGlyLysPheCysProHisArgValAlaCysLysArgLeuValGlyMetAsnMetProLeuAsnSerAspGlyThrValThrPheAsnAlaThrLeuPheAlaLeuValArgThrAlaLeuLysIleLysThrGluGlyAsnPheGluGlnAlaAsnGluGluLeuArgAlaIleIleLysLysIleTrpLysArgThrSerMetLysLeuLeuAspGlnValIleProProIleGlyAspAspGluValThrValGlyLysPheTyrAlaThrPheLeuIleGlnGluHisPheArgLysPheMetLysArgGlnGluGluTyrTyrGlyTyrArgProLysLysAspIleValGlnIleGlnAlaGlyLeuArgThrIleGluGluGluAlaAlaProGluIleCysArgThrValSerGlyAspLeuAlaAlaGluGluGluLeuGluArgAlaMetValGluAlaAlaMetGluGluGlyIlePheArgArgThrGlyGlyLeuPheGlyGlnValAspAsnPheLeuGluArgThrAsnSerLeuProProValMetAlaAsnGlnArgProLeuGlnPheAlaGluIleGluMetGluGluMetGluSerProValPheLeuGluAspPheProGlnAspProArgThrAsnProLeuAlaArgAlaAsnThrAsnAsnAlaAsnAlaAsnValAlaTyrGlyAsnSerAsnHisSerAsnSerHisValPheSerSerValHisTyrGluArgGluPheProGluGluThrGluThrProAlaThrArgGlyArgAlaLeuGlyGlnProCysArgValLeuGlyProHisSerLysProCysValGluMetLeuLysGlyLeuLeuThrGlnArgAlaMetProArgGlyGlnAlaProProAlaProCysGlnCysProArgValGluSerSerMetProGluAspArgLysSerSerThrProGlySerLeuHisGluGluThrProHisSerArgSerThrArgGluAsnThrSerArgCysSerAlaProAlaThrAlaLeuLeuIleGlnLysAlaLeuValArgGlyGlyLeuGlyThrLeuAlaAlaAspAlaAsnPheIleMetAlaThrGlyGlnAlaLeuAlaAspAlaCysGlnMetGluProGluGluValGluIleMetAlaThrGluLeuLeuLysGlyArgGluAlaProGluGlyMetAlaSerSerLeuGlyCysLeuAsnLeuGlySerSerLeuGlySerLeuAspGlnHisGlnGlySerGlnGluThrLeuIleProProArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749587",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000362061.4:c.4025C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000069.3:c.4025C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355192.3:p.Ser1342Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000060.2:p.Ser1342Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4391,
          "referenceAllele": "C",
          "start": 4390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "ENST00000679417.1:c.*3188C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506706.1:n.*3188C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779048"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1151,
          "referenceAllele": "C",
          "start": 1150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "ENST00000680051.1:n.1151C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779672"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4138,
          "referenceAllele": "C",
          "start": 4137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "ENST00000680059.1:c.*1543C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504944.1:n.*1543C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779680"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4112,
          "referenceAllele": "C",
          "start": 4111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "ENST00000681078.1:c.4025C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506645.1:p.Ser1342Ter",
        "hgvsWellDefined": "ENSP00000506645.1:p.Ser1342_Ser1451delinsAspTyrAlaProGlyGluGluTyrThrCysGlyThrAsnPheAlaTyrTyrTyrPheIleSerPheTyrMetLeuCysAlaPheLeuValIleAsnLeuPheValAlaValIleMetAspAsnPheAspTyrLeuThrArgAspTrpSerIleLeuGlyProHisHisLeuAspGluPheLysAlaIleTrpAlaGluTyrAspProGluAlaLysGlyArgIleLysHisLeuAspValValThrLeuLeuArgArgIleGlnProProLeuGlyPheGlyLysPheCysProHisArgValAlaCysLysAspValLeuValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780691"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4161,
          "referenceAllele": "C",
          "start": 4160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "ENST00000681190.1:c.*207C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506428.1:n.*207C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780801"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4052,
          "referenceAllele": "C",
          "start": 4051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "ENST00000681874.1:c.3965C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505162.1:p.Ser1322Ter",
        "hgvsWellDefined": "ENSP00000505162.1:p.Ser1322_Leu1853delinsAspTyrAlaProGlyGluGluTyrThrCysGlyThrAsnPheAlaTyrTyrTyrPheIleSerPheTyrMetLeuCysAlaPheLeuValIleAsnLeuPheValAlaValIleMetAspAsnPheAspTyrLeuThrArgAspTrpSerIleLeuGlyProHisHisLeuAspGluPheLysAlaIleTrpAlaGluTyrAspProGluAlaLysGlyArgIleLysHisLeuAspValValThrLeuLeuArgArgIleGlnProProLeuGlyPheGlyLysPheCysProHisArgValAlaCysLysArgLeuValGlyMetAsnMetProLeuAsnSerAspGlyThrValThrPheAsnAlaThrLeuPheAlaLeuValArgThrAlaLeuLysIleLysThrGluGlyAsnPheGluGlnAlaAsnGluGluLeuArgAlaIleIleLysLysIleTrpLysArgThrSerMetLysLeuLeuAspGlnValIleProProIleGlyAspAspGluValThrValGlyLysPheTyrAlaThrPheLeuIleGlnGluHisPheArgLysPheMetLysArgGlnGluGluTyrTyrGlyTyrArgProLysLysAspIleValGlnIleGlnAlaGlyLeuArgThrIleGluGluGluAlaAlaProGluIleCysArgThrValSerGlyAspLeuAlaAlaGluGluGluLeuGluArgAlaMetValGluAlaAlaMetGluGluGlyIlePheArgArgThrGlyGlyLeuPheGlyGlnValAspAsnPheLeuGluArgThrAsnSerLeuProProValMetAlaAsnGlnArgProLeuGlnPheAlaGluIleGluMetGluGluMetGluSerProValPheLeuGluAspPheProGlnAspProArgThrAsnProLeuAlaArgAlaAsnThrAsnAsnAlaAsnAlaAsnValAlaTyrGlyAsnSerAsnHisSerAsnSerHisValPheSerSerValHisTyrGluArgGluPheProGluGluThrGluThrProAlaThrArgGlyArgAlaLeuGlyGlnProCysArgValLeuGlyProHisSerLysProCysValGluMetLeuLysGlyLeuLeuThrGlnArgAlaMetProArgGlyGlnAlaProProAlaProCysGlnCysProArgValGluSerSerMetProGluAspArgLysSerSerThrProGlySerLeuHisGluGluThrProHisSerArgSerThrArgGluAsnThrSerArgCysSerAlaProAlaThrAlaLeuLeuIleGlnLysAlaLeuValArgGlyGlyLeuGlyThrLeuAlaAlaAspAlaAsnPheIleMetAlaThrGlyGlnAlaLeuAlaAspAlaCysGlnMetGluProGluGluValGluIleMetAlaThrGluLeuLeuLysGlyArgGluAlaProGluGlyMetAlaSerSerLeuGlyCysLeuAsnLeuGlySerSerLeuGlySerLeuAspGlnHisGlnGlySerGlnGluThrLeuIleProProArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781475"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4252,
          "referenceAllele": "C",
          "start": 4251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "ENST00000362061.3:c.4025C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355192.3:p.Ser1342Ter",
        "hgvsWellDefined": "ENSP00000355192.3:p.Ser1342_Leu1873delinsAspTyrAlaProGlyGluGluTyrThrCysGlyThrAsnPheAlaTyrTyrTyrPheIleSerPheTyrMetLeuCysAlaPheLeuValIleAsnLeuPheValAlaValIleMetAspAsnPheAspTyrLeuThrArgAspTrpSerIleLeuGlyProHisHisLeuAspGluPheLysAlaIleTrpAlaGluTyrAspProGluAlaLysGlyArgIleLysHisLeuAspValValThrLeuLeuArgArgIleGlnProProLeuGlyPheGlyLysPheCysProHisArgValAlaCysLysArgLeuValGlyMetAsnMetProLeuAsnSerAspGlyThrValThrPheAsnAlaThrLeuPheAlaLeuValArgThrAlaLeuLysIleLysThrGluGlyAsnPheGluGlnAlaAsnGluGluLeuArgAlaIleIleLysLysIleTrpLysArgThrSerMetLysLeuLeuAspGlnValIleProProIleGlyAspAspGluValThrValGlyLysPheTyrAlaThrPheLeuIleGlnGluHisPheArgLysPheMetLysArgGlnGluGluTyrTyrGlyTyrArgProLysLysAspIleValGlnIleGlnAlaGlyLeuArgThrIleGluGluGluAlaAlaProGluIleCysArgThrValSerGlyAspLeuAlaAlaGluGluGluLeuGluArgAlaMetValGluAlaAlaMetGluGluGlyIlePheArgArgThrGlyGlyLeuPheGlyGlnValAspAsnPheLeuGluArgThrAsnSerLeuProProValMetAlaAsnGlnArgProLeuGlnPheAlaGluIleGluMetGluGluMetGluSerProValPheLeuGluAspPheProGlnAspProArgThrAsnProLeuAlaArgAlaAsnThrAsnAsnAlaAsnAlaAsnValAlaTyrGlyAsnSerAsnHisSerAsnSerHisValPheSerSerValHisTyrGluArgGluPheProGluGluThrGluThrProAlaThrArgGlyArgAlaLeuGlyGlnProCysArgValLeuGlyProHisSerLysProCysValGluMetLeuLysGlyLeuLeuThrGlnArgAlaMetProArgGlyGlnAlaProProAlaProCysGlnCysProArgValGluSerSerMetProGluAspArgLysSerSerThrProGlySerLeuHisGluGluThrProHisSerArgSerThrArgGluAsnThrSerArgCysSerAlaProAlaThrAlaLeuLeuIleGlnLysAlaLeuValArgGlyGlyLeuGlyThrLeuAlaAlaAspAlaAsnPheIleMetAlaThrGlyGlnAlaLeuAlaAspAlaCysGlnMetGluProGluGluValGluIleMetAlaThrGluLeuLeuLysGlyArgGluAlaProGluGlyMetAlaSerSerLeuGlyCysLeuAsnLeuGlySerSerLeuGlySerLeuAspGlnHisGlnGlySerGlnGluThrLeuIleProProArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247221"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4080,
          "referenceAllele": "C",
          "start": 4079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "ENST00000367338.7:c.3968C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356307.3:p.Ser1323Ter",
        "hgvsWellDefined": "ENSP00000356307.3:p.Ser1323_Leu1854delinsAspTyrAlaProGlyGluGluTyrThrCysGlyThrAsnPheAlaTyrTyrTyrPheIleSerPheTyrMetLeuCysAlaPheLeuValIleAsnLeuPheValAlaValIleMetAspAsnPheAspTyrLeuThrArgAspTrpSerIleLeuGlyProHisHisLeuAspGluPheLysAlaIleTrpAlaGluTyrAspProGluAlaLysGlyArgIleLysHisLeuAspValValThrLeuLeuArgArgIleGlnProProLeuGlyPheGlyLysPheCysProHisArgValAlaCysLysArgLeuValGlyMetAsnMetProLeuAsnSerAspGlyThrValThrPheAsnAlaThrLeuPheAlaLeuValArgThrAlaLeuLysIleLysThrGluGlyAsnPheGluGlnAlaAsnGluGluLeuArgAlaIleIleLysLysIleTrpLysArgThrSerMetLysLeuLeuAspGlnValIleProProIleGlyAspAspGluValThrValGlyLysPheTyrAlaThrPheLeuIleGlnGluHisPheArgLysPheMetLysArgGlnGluGluTyrTyrGlyTyrArgProLysLysAspIleValGlnIleGlnAlaGlyLeuArgThrIleGluGluGluAlaAlaProGluIleCysArgThrValSerGlyAspLeuAlaAlaGluGluGluLeuGluArgAlaMetValGluAlaAlaMetGluGluGlyIlePheArgArgThrGlyGlyLeuPheGlyGlnValAspAsnPheLeuGluArgThrAsnSerLeuProProValMetAlaAsnGlnArgProLeuGlnPheAlaGluIleGluMetGluGluMetGluSerProValPheLeuGluAspPheProGlnAspProArgThrAsnProLeuAlaArgAlaAsnThrAsnAsnAlaAsnAlaAsnValAlaTyrGlyAsnSerAsnHisSerAsnSerHisValPheSerSerValHisTyrGluArgGluPheProGluGluThrGluThrProAlaThrArgGlyArgAlaLeuGlyGlnProCysArgValLeuGlyProHisSerLysProCysValGluMetLeuLysGlyLeuLeuThrGlnArgAlaMetProArgGlyGlnAlaProProAlaProCysGlnCysProArgValGluSerSerMetProGluAspArgLysSerSerThrProGlySerLeuHisGluGluThrProHisSerArgSerThrArgGluAsnThrSerArgCysSerAlaProAlaThrAlaLeuLeuIleGlnLysAlaLeuValArgGlyGlyLeuGlyThrLeuAlaAlaAspAlaAsnPheIleMetAlaThrGlyGlnAlaLeuAlaAspAlaCysGlnMetGluProGluGluValGluIleMetAlaThrGluLeuLeuLysGlyArgGluAlaProGluGlyMetAlaSerSerLeuGlyCysLeuAsnLeuGlySerSerLeuGlySerLeuAspGlnHisGlnGlySerGlnGluThrLeuIleProProArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247424"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915961318",
      "coordinates": [
        {
          "allele": "A",
          "end": 4252,
          "referenceAllele": "C",
          "start": 4251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "NM_000069.2:c.4025C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000060.2:p.Ser1342Ter",
        "hgvsWellDefined": "NP_000060.2:p.Ser1342_Leu1873delinsAspTyrAlaProGlyGluGluTyrThrCysGlyThrAsnPheAlaTyrTyrTyrPheIleSerPheTyrMetLeuCysAlaPheLeuValIleAsnLeuPheValAlaValIleMetAspAsnPheAspTyrLeuThrArgAspTrpSerIleLeuGlyProHisHisLeuAspGluPheLysAlaIleTrpAlaGluTyrAspProGluAlaLysGlyArgIleLysHisLeuAspValValThrLeuLeuArgArgIleGlnProProLeuGlyPheGlyLysPheCysProHisArgValAlaCysLysArgLeuValGlyMetAsnMetProLeuAsnSerAspGlyThrValThrPheAsnAlaThrLeuPheAlaLeuValArgThrAlaLeuLysIleLysThrGluGlyAsnPheGluGlnAlaAsnGluGluLeuArgAlaIleIleLysLysIleTrpLysArgThrSerMetLysLeuLeuAspGlnValIleProProIleGlyAspAspGluValThrValGlyLysPheTyrAlaThrPheLeuIleGlnGluHisPheArgLysPheMetLysArgGlnGluGluTyrTyrGlyTyrArgProLysLysAspIleValGlnIleGlnAlaGlyLeuArgThrIleGluGluGluAlaAlaProGluIleCysArgThrValSerGlyAspLeuAlaAlaGluGluGluLeuGluArgAlaMetValGluAlaAlaMetGluGluGlyIlePheArgArgThrGlyGlyLeuPheGlyGlnValAspAsnPheLeuGluArgThrAsnSerLeuProProValMetAlaAsnGlnArgProLeuGlnPheAlaGluIleGluMetGluGluMetGluSerProValPheLeuGluAspPheProGlnAspProArgThrAsnProLeuAlaArgAlaAsnThrAsnAsnAlaAsnAlaAsnValAlaTyrGlyAsnSerAsnHisSerAsnSerHisValPheSerSerValHisTyrGluArgGluPheProGluGluThrGluThrProAlaThrArgGlyArgAlaLeuGlyGlnProCysArgValLeuGlyProHisSerLysProCysValGluMetLeuLysGlyLeuLeuThrGlnArgAlaMetProArgGlyGlnAlaProProAlaProCysGlnCysProArgValGluSerSerMetProGluAspArgLysSerSerThrProGlySerLeuHisGluGluThrProHisSerArgSerThrArgGluAsnThrSerArgCysSerAlaProAlaThrAlaLeuLeuIleGlnLysAlaLeuValArgGlyGlyLeuGlyThrLeuAlaAlaAspAlaAsnPheIleMetAlaThrGlyGlnAlaLeuAlaAspAlaCysGlnMetGluProGluGluValGluIleMetAlaThrGluLeuLeuLysGlyArgGluAlaProGluGlyMetAlaSerSerLeuGlyCysLeuAsnLeuGlySerSerLeuGlySerLeuAspGlnHisGlnGlySerGlnGluThrLeuIleProProArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006133"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4061,
          "referenceAllele": "C",
          "start": 4060
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "XM_005245478.2:c.3968C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245535.1:p.Ser1323Ter",
        "hgvsWellDefined": "XP_005245535.1:p.Ser1323_Leu1854delinsAspTyrAlaProGlyGluGluTyrThrCysGlyThrAsnPheAlaTyrTyrTyrPheIleSerPheTyrMetLeuCysAlaPheLeuValIleAsnLeuPheValAlaValIleMetAspAsnPheAspTyrLeuThrArgAspTrpSerIleLeuGlyProHisHisLeuAspGluPheLysAlaIleTrpAlaGluTyrAspProGluAlaLysGlyArgIleLysHisLeuAspValValThrLeuLeuArgArgIleGlnProProLeuGlyPheGlyLysPheCysProHisArgValAlaCysLysArgLeuValGlyMetAsnMetProLeuAsnSerAspGlyThrValThrPheAsnAlaThrLeuPheAlaLeuValArgThrAlaLeuLysIleLysThrGluGlyAsnPheGluGlnAlaAsnGluGluLeuArgAlaIleIleLysLysIleTrpLysArgThrSerMetLysLeuLeuAspGlnValIleProProIleGlyAspAspGluValThrValGlyLysPheTyrAlaThrPheLeuIleGlnGluHisPheArgLysPheMetLysArgGlnGluGluTyrTyrGlyTyrArgProLysLysAspIleValGlnIleGlnAlaGlyLeuArgThrIleGluGluGluAlaAlaProGluIleCysArgThrValSerGlyAspLeuAlaAlaGluGluGluLeuGluArgAlaMetValGluAlaAlaMetGluGluGlyIlePheArgArgThrGlyGlyLeuPheGlyGlnValAspAsnPheLeuGluArgThrAsnSerLeuProProValMetAlaAsnGlnArgProLeuGlnPheAlaGluIleGluMetGluGluMetGluSerProValPheLeuGluAspPheProGlnAspProArgThrAsnProLeuAlaArgAlaAsnThrAsnAsnAlaAsnAlaAsnValAlaTyrGlyAsnSerAsnHisSerAsnSerHisValPheSerSerValHisTyrGluArgGluPheProGluGluThrGluThrProAlaThrArgGlyArgAlaLeuGlyGlnProCysArgValLeuGlyProHisSerLysProCysValGluMetLeuLysGlyLeuLeuThrGlnArgAlaMetProArgGlyGlnAlaProProAlaProCysGlnCysProArgValGluSerSerMetProGluAspArgLysSerSerThrProGlySerLeuHisGluGluThrProHisSerArgSerThrArgGluAsnThrSerArgCysSerAlaProAlaThrAlaLeuLeuIleGlnLysAlaLeuValArgGlyGlyLeuGlyThrLeuAlaAlaAspAlaAsnPheIleMetAlaThrGlyGlnAlaLeuAlaAspAlaCysGlnMetGluProGluGluValGluIleMetAlaThrGluLeuLeuLysGlyArgGluAlaProGluGlyMetAlaSerSerLeuGlyCysLeuAsnLeuGlySerSerLeuGlySerLeuAspGlnHisGlnGlySerGlnGluThrLeuIleProProArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057238"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4082,
          "referenceAllele": "C",
          "start": 4081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "XM_005245478.3:c.3968C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245535.1:p.Ser1323Ter",
        "hgvsWellDefined": "XP_005245535.1:p.Ser1323_Leu1854delinsAspTyrAlaProGlyGluGluTyrThrCysGlyThrAsnPheAlaTyrTyrTyrPheIleSerPheTyrMetLeuCysAlaPheLeuValIleAsnLeuPheValAlaValIleMetAspAsnPheAspTyrLeuThrArgAspTrpSerIleLeuGlyProHisHisLeuAspGluPheLysAlaIleTrpAlaGluTyrAspProGluAlaLysGlyArgIleLysHisLeuAspValValThrLeuLeuArgArgIleGlnProProLeuGlyPheGlyLysPheCysProHisArgValAlaCysLysArgLeuValGlyMetAsnMetProLeuAsnSerAspGlyThrValThrPheAsnAlaThrLeuPheAlaLeuValArgThrAlaLeuLysIleLysThrGluGlyAsnPheGluGlnAlaAsnGluGluLeuArgAlaIleIleLysLysIleTrpLysArgThrSerMetLysLeuLeuAspGlnValIleProProIleGlyAspAspGluValThrValGlyLysPheTyrAlaThrPheLeuIleGlnGluHisPheArgLysPheMetLysArgGlnGluGluTyrTyrGlyTyrArgProLysLysAspIleValGlnIleGlnAlaGlyLeuArgThrIleGluGluGluAlaAlaProGluIleCysArgThrValSerGlyAspLeuAlaAlaGluGluGluLeuGluArgAlaMetValGluAlaAlaMetGluGluGlyIlePheArgArgThrGlyGlyLeuPheGlyGlnValAspAsnPheLeuGluArgThrAsnSerLeuProProValMetAlaAsnGlnArgProLeuGlnPheAlaGluIleGluMetGluGluMetGluSerProValPheLeuGluAspPheProGlnAspProArgThrAsnProLeuAlaArgAlaAsnThrAsnAsnAlaAsnAlaAsnValAlaTyrGlyAsnSerAsnHisSerAsnSerHisValPheSerSerValHisTyrGluArgGluPheProGluGluThrGluThrProAlaThrArgGlyArgAlaLeuGlyGlnProCysArgValLeuGlyProHisSerLysProCysValGluMetLeuLysGlyLeuLeuThrGlnArgAlaMetProArgGlyGlnAlaProProAlaProCysGlnCysProArgValGluSerSerMetProGluAspArgLysSerSerThrProGlySerLeuHisGluGluThrProHisSerArgSerThrArgGluAsnThrSerArgCysSerAlaProAlaThrAlaLeuLeuIleGlnLysAlaLeuValArgGlyGlyLeuGlyThrLeuAlaAlaAspAlaAsnPheIleMetAlaThrGlyGlnAlaLeuAlaAspAlaCysGlnMetGluProGluGluValGluIleMetAlaThrGluLeuLeuLysGlyArgGluAlaProGluGlyMetAlaSerSerLeuGlyCysLeuAsnLeuGlySerSerLeuGlySerLeuAspGlnHisGlnGlySerGlnGluThrLeuIleProProArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532434"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915961318",
      "coordinates": [
        {
          "allele": "A",
          "end": 4112,
          "referenceAllele": "C",
          "start": 4111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "NM_000069.3:c.4025C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000060.2:p.Ser1342Ter",
        "hgvsWellDefined": "NP_000060.2:p.Ser1342_Leu1873delinsAspTyrAlaProGlyGluGluTyrThrCysGlyThrAsnPheAlaTyrTyrTyrPheIleSerPheTyrMetLeuCysAlaPheLeuValIleAsnLeuPheValAlaValIleMetAspAsnPheAspTyrLeuThrArgAspTrpSerIleLeuGlyProHisHisLeuAspGluPheLysAlaIleTrpAlaGluTyrAspProGluAlaLysGlyArgIleLysHisLeuAspValValThrLeuLeuArgArgIleGlnProProLeuGlyPheGlyLysPheCysProHisArgValAlaCysLysArgLeuValGlyMetAsnMetProLeuAsnSerAspGlyThrValThrPheAsnAlaThrLeuPheAlaLeuValArgThrAlaLeuLysIleLysThrGluGlyAsnPheGluGlnAlaAsnGluGluLeuArgAlaIleIleLysLysIleTrpLysArgThrSerMetLysLeuLeuAspGlnValIleProProIleGlyAspAspGluValThrValGlyLysPheTyrAlaThrPheLeuIleGlnGluHisPheArgLysPheMetLysArgGlnGluGluTyrTyrGlyTyrArgProLysLysAspIleValGlnIleGlnAlaGlyLeuArgThrIleGluGluGluAlaAlaProGluIleCysArgThrValSerGlyAspLeuAlaAlaGluGluGluLeuGluArgAlaMetValGluAlaAlaMetGluGluGlyIlePheArgArgThrGlyGlyLeuPheGlyGlnValAspAsnPheLeuGluArgThrAsnSerLeuProProValMetAlaAsnGlnArgProLeuGlnPheAlaGluIleGluMetGluGluMetGluSerProValPheLeuGluAspPheProGlnAspProArgThrAsnProLeuAlaArgAlaAsnThrAsnAsnAlaAsnAlaAsnValAlaTyrGlyAsnSerAsnHisSerAsnSerHisValPheSerSerValHisTyrGluArgGluPheProGluGluThrGluThrProAlaThrArgGlyArgAlaLeuGlyGlnProCysArgValLeuGlyProHisSerLysProCysValGluMetLeuLysGlyLeuLeuThrGlnArgAlaMetProArgGlyGlnAlaProProAlaProCysGlnCysProArgValGluSerSerMetProGluAspArgLysSerSerThrProGlySerLeuHisGluGluThrProHisSerArgSerThrArgGluAsnThrSerArgCysSerAlaProAlaThrAlaLeuLeuIleGlnLysAlaLeuValArgGlyGlyLeuGlyThrLeuAlaAlaAspAlaAsnPheIleMetAlaThrGlyGlnAlaLeuAlaAspAlaCysGlnMetGluProGluGluValGluIleMetAlaThrGluLeuLeuLysGlyArgGluAlaProGluGlyMetAlaSerSerLeuGlyCysLeuAsnLeuGlySerSerLeuGlySerLeuAspGlnHisGlnGlySerGlnGluThrLeuIleProProArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662308",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000362061.4:c.4025C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000069.3:c.4025C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355192.3:p.Ser1342Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000060.2:p.Ser1342Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}