{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA083722",
  "communityStandardTitle": [
    "NM_000069.3(CACNA1S):c.5104C>T (p.Arg1702Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3385601",
        "active": true,
        "id": "COSM3385601"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=389351[alleleid]",
        "alleleId": 389351,
        "preferredName": "NM_000069.3(CACNA1S):c.5104C>T (p.Arg1702Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/402469",
        "RCV": [
          "RCV000454946",
          "RCV000782224",
          "RCV000814679",
          "RCV001096066"
        ],
        "variationId": 402469
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-201010662-G-A",
        "id": "1-201010662-G-A",
        "variant": "1:201010662 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.201010662G>A?assembly=hg19",
        "id": "chr1:g.201010662G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.201041534G>A?assembly=hg38",
        "id": "chr1:g.201041534G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/550371466",
        "rs": 550371466
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-201010662-G-A?dataset=gnomad_r2_1",
        "id": "1-201010662-G-A",
        "variant": "1:201010662 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-201041534-G-A?dataset=gnomad_r3",
        "id": "1-201041534-G-A",
        "variant": "1:201041534 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-201041534-G-A?dataset=gnomad_r4",
        "id": "1-201041534-G-A",
        "variant": "1:201041534 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 201041534,
          "referenceAllele": "G",
          "start": 201041533
        }
      ],
      "hgvs": [
        "NC_000001.11:g.201041534G>A",
        "CM000663.2:g.201041534G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 201010662,
          "referenceAllele": "G",
          "start": 201010661
        }
      ],
      "hgvs": [
        "NC_000001.10:g.201010662G>A",
        "CM000663.1:g.201010662G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 199277285,
          "referenceAllele": "G",
          "start": 199277284
        }
      ],
      "hgvs": [
        "NC_000001.9:g.199277285G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 76033,
          "referenceAllele": "C",
          "start": 76032
        }
      ],
      "hgvs": [
        "NG_009816.1:g.76033C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001653"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 76033,
          "referenceAllele": "C",
          "start": 76032
        }
      ],
      "hgvs": [
        "NG_009816.2:g.76033C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673532"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5191,
          "referenceAllele": "C",
          "start": 5190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "ENST00000362061.4:c.5104C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355192.3:p.Arg1702Ter",
        "hgvsWellDefined": "ENSP00000355192.3:p.Arg1702_Leu1873delinsAlaLeuGlyGlnProCysArgValLeuGlyProHisSerLysProCysValGluMetLeuLysGlyLeuLeuThrGlnArgAlaMetProArgGlyGlnAlaProProAlaProCysGlnCysProArgValGluSerSerMetProGluAspArgLysSerSerThrProGlySerLeuHisGluGluThrProHisSerArgSerThrArgGluAsnThrSerArgCysSerAlaProAlaThrAlaLeuLeuIleGlnLysAlaLeuValArgGlyGlyLeuGlyThrLeuAlaAlaAspAlaAsnPheIleMetAlaThrGlyGlnAlaLeuAlaAspAlaCysGlnMetGluProGluGluValGluIleMetAlaThrGluLeuLeuLysGlyArgGluAlaProGluGlyMetAlaSerSerLeuGlyCysLeuAsnLeuGlySerSerLeuGlySerLeuAspGlnHisGlnGlySerGlnGluThrLeuIleProProArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749587",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000362061.4:c.5104C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000069.3:c.5104C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355192.3:p.Arg1702Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000060.2:p.Arg1702Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5470,
          "referenceAllele": "C",
          "start": 5469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "ENST00000679417.1:c.*4267C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506706.1:n.*4267C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779048"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5217,
          "referenceAllele": "C",
          "start": 5216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "ENST00000680059.1:c.*2622C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504944.1:n.*2622C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779680"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5322,
          "referenceAllele": "C",
          "start": 5321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "ENST00000681078.1:c.*879C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506645.1:n.*879C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780691"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5240,
          "referenceAllele": "C",
          "start": 5239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "ENST00000681190.1:c.*1286C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506428.1:n.*1286C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780801"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5131,
          "referenceAllele": "C",
          "start": 5130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "ENST00000681874.1:c.5044C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505162.1:p.Arg1682Ter",
        "hgvsWellDefined": "ENSP00000505162.1:p.Arg1682_Leu1853delinsAlaLeuGlyGlnProCysArgValLeuGlyProHisSerLysProCysValGluMetLeuLysGlyLeuLeuThrGlnArgAlaMetProArgGlyGlnAlaProProAlaProCysGlnCysProArgValGluSerSerMetProGluAspArgLysSerSerThrProGlySerLeuHisGluGluThrProHisSerArgSerThrArgGluAsnThrSerArgCysSerAlaProAlaThrAlaLeuLeuIleGlnLysAlaLeuValArgGlyGlyLeuGlyThrLeuAlaAlaAspAlaAsnPheIleMetAlaThrGlyGlnAlaLeuAlaAspAlaCysGlnMetGluProGluGluValGluIleMetAlaThrGluLeuLeuLysGlyArgGluAlaProGluGlyMetAlaSerSerLeuGlyCysLeuAsnLeuGlySerSerLeuGlySerLeuAspGlnHisGlnGlySerGlnGluThrLeuIleProProArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781475"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5331,
          "referenceAllele": "C",
          "start": 5330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "ENST00000362061.3:c.5104C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355192.3:p.Arg1702Ter",
        "hgvsWellDefined": "ENSP00000355192.3:p.Arg1702_Leu1873delinsAlaLeuGlyGlnProCysArgValLeuGlyProHisSerLysProCysValGluMetLeuLysGlyLeuLeuThrGlnArgAlaMetProArgGlyGlnAlaProProAlaProCysGlnCysProArgValGluSerSerMetProGluAspArgLysSerSerThrProGlySerLeuHisGluGluThrProHisSerArgSerThrArgGluAsnThrSerArgCysSerAlaProAlaThrAlaLeuLeuIleGlnLysAlaLeuValArgGlyGlyLeuGlyThrLeuAlaAlaAspAlaAsnPheIleMetAlaThrGlyGlnAlaLeuAlaAspAlaCysGlnMetGluProGluGluValGluIleMetAlaThrGluLeuLeuLysGlyArgGluAlaProGluGlyMetAlaSerSerLeuGlyCysLeuAsnLeuGlySerSerLeuGlySerLeuAspGlnHisGlnGlySerGlnGluThrLeuIleProProArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247221"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5159,
          "referenceAllele": "C",
          "start": 5158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "ENST00000367338.7:c.5047C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356307.3:p.Arg1683Ter",
        "hgvsWellDefined": "ENSP00000356307.3:p.Arg1683_Leu1854delinsAlaLeuGlyGlnProCysArgValLeuGlyProHisSerLysProCysValGluMetLeuLysGlyLeuLeuThrGlnArgAlaMetProArgGlyGlnAlaProProAlaProCysGlnCysProArgValGluSerSerMetProGluAspArgLysSerSerThrProGlySerLeuHisGluGluThrProHisSerArgSerThrArgGluAsnThrSerArgCysSerAlaProAlaThrAlaLeuLeuIleGlnLysAlaLeuValArgGlyGlyLeuGlyThrLeuAlaAlaAspAlaAsnPheIleMetAlaThrGlyGlnAlaLeuAlaAspAlaCysGlnMetGluProGluGluValGluIleMetAlaThrGluLeuLeuLysGlyArgGluAlaProGluGlyMetAlaSerSerLeuGlyCysLeuAsnLeuGlySerSerLeuGlySerLeuAspGlnHisGlnGlySerGlnGluThrLeuIleProProArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247424"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645416109",
      "coordinates": [
        {
          "allele": "T",
          "end": 5331,
          "referenceAllele": "C",
          "start": 5330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "NM_000069.2:c.5104C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000060.2:p.Arg1702Ter",
        "hgvsWellDefined": "NP_000060.2:p.Arg1702_Leu1873delinsAlaLeuGlyGlnProCysArgValLeuGlyProHisSerLysProCysValGluMetLeuLysGlyLeuLeuThrGlnArgAlaMetProArgGlyGlnAlaProProAlaProCysGlnCysProArgValGluSerSerMetProGluAspArgLysSerSerThrProGlySerLeuHisGluGluThrProHisSerArgSerThrArgGluAsnThrSerArgCysSerAlaProAlaThrAlaLeuLeuIleGlnLysAlaLeuValArgGlyGlyLeuGlyThrLeuAlaAlaAspAlaAsnPheIleMetAlaThrGlyGlnAlaLeuAlaAspAlaCysGlnMetGluProGluGluValGluIleMetAlaThrGluLeuLeuLysGlyArgGluAlaProGluGlyMetAlaSerSerLeuGlyCysLeuAsnLeuGlySerSerLeuGlySerLeuAspGlnHisGlnGlySerGlnGluThrLeuIleProProArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006133"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5140,
          "referenceAllele": "C",
          "start": 5139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "XM_005245478.2:c.5047C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245535.1:p.Arg1683Ter",
        "hgvsWellDefined": "XP_005245535.1:p.Arg1683_Leu1854delinsAlaLeuGlyGlnProCysArgValLeuGlyProHisSerLysProCysValGluMetLeuLysGlyLeuLeuThrGlnArgAlaMetProArgGlyGlnAlaProProAlaProCysGlnCysProArgValGluSerSerMetProGluAspArgLysSerSerThrProGlySerLeuHisGluGluThrProHisSerArgSerThrArgGluAsnThrSerArgCysSerAlaProAlaThrAlaLeuLeuIleGlnLysAlaLeuValArgGlyGlyLeuGlyThrLeuAlaAlaAspAlaAsnPheIleMetAlaThrGlyGlnAlaLeuAlaAspAlaCysGlnMetGluProGluGluValGluIleMetAlaThrGluLeuLeuLysGlyArgGluAlaProGluGlyMetAlaSerSerLeuGlyCysLeuAsnLeuGlySerSerLeuGlySerLeuAspGlnHisGlnGlySerGlnGluThrLeuIleProProArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057238"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1464,
          "endIntronDirection": "-",
          "endIntronOffset": 320,
          "referenceAllele": "G",
          "start": 1464,
          "startIntronDirection": "-",
          "startIntronOffset": 321
        }
      ],
      "hgvs": [
        "XR_241170.3:n.1465-321G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS115987"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2002,
          "endIntronDirection": "-",
          "endIntronOffset": 320,
          "referenceAllele": "G",
          "start": 2002,
          "startIntronDirection": "-",
          "startIntronOffset": 321
        }
      ],
      "hgvs": [
        "XR_922405.1:n.2003-321G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS119467"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2280,
          "endIntronDirection": "-",
          "endIntronOffset": 320,
          "referenceAllele": "G",
          "start": 2280,
          "startIntronDirection": "-",
          "startIntronOffset": 321
        }
      ],
      "hgvs": [
        "XR_922406.1:n.2281-321G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS119468"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2190,
          "endIntronDirection": "-",
          "endIntronOffset": 320,
          "referenceAllele": "G",
          "start": 2190,
          "startIntronDirection": "-",
          "startIntronOffset": 321
        }
      ],
      "hgvs": [
        "XR_922407.1:n.2191-321G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS119469"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1368,
          "endIntronDirection": "-",
          "endIntronOffset": 320,
          "referenceAllele": "G",
          "start": 1368,
          "startIntronDirection": "-",
          "startIntronOffset": 321
        }
      ],
      "hgvs": [
        "XR_922408.1:n.1369-321G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS119470"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1983,
          "endIntronDirection": "-",
          "endIntronOffset": 320,
          "referenceAllele": "G",
          "start": 1983,
          "startIntronDirection": "-",
          "startIntronOffset": 321
        }
      ],
      "hgvs": [
        "XR_922409.1:n.1984-321G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS119471"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1390,
          "endIntronDirection": "-",
          "endIntronOffset": 320,
          "referenceAllele": "G",
          "start": 1390,
          "startIntronDirection": "-",
          "startIntronOffset": 321
        }
      ],
      "hgvs": [
        "XR_922410.1:n.1391-321G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS119472"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1982,
          "endIntronDirection": "-",
          "endIntronOffset": 320,
          "referenceAllele": "G",
          "start": 1982,
          "startIntronDirection": "-",
          "startIntronOffset": 321
        }
      ],
      "hgvs": [
        "XR_922411.1:n.1983-321G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS119473"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2196,
          "endIntronDirection": "-",
          "endIntronOffset": 320,
          "referenceAllele": "G",
          "start": 2196,
          "startIntronDirection": "-",
          "startIntronOffset": 321
        }
      ],
      "hgvs": [
        "XR_922412.1:n.2197-321G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS119474"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2092,
          "endIntronDirection": "-",
          "endIntronOffset": 320,
          "referenceAllele": "G",
          "start": 2092,
          "startIntronDirection": "-",
          "startIntronOffset": 321
        }
      ],
      "hgvs": [
        "XR_922413.1:n.2093-321G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS119475"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1299,
          "endIntronDirection": "-",
          "endIntronOffset": 320,
          "referenceAllele": "G",
          "start": 1299,
          "startIntronDirection": "-",
          "startIntronOffset": 321
        }
      ],
      "hgvs": [
        "XR_922414.1:n.1300-321G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS119476"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1868,
          "endIntronDirection": "-",
          "endIntronOffset": 320,
          "referenceAllele": "G",
          "start": 1868,
          "startIntronDirection": "-",
          "startIntronOffset": 321
        }
      ],
      "hgvs": [
        "XR_922415.1:n.1869-321G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS119477"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1308,
          "endIntronDirection": "-",
          "endIntronOffset": 320,
          "referenceAllele": "G",
          "start": 1308,
          "startIntronDirection": "-",
          "startIntronOffset": 321
        }
      ],
      "hgvs": [
        "XR_922416.1:n.1309-321G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS119478"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1886,
          "endIntronDirection": "-",
          "endIntronOffset": 320,
          "referenceAllele": "G",
          "start": 1886,
          "startIntronDirection": "-",
          "startIntronOffset": 321
        }
      ],
      "hgvs": [
        "XR_922417.1:n.1887-321G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS119479"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1820,
          "endIntronDirection": "-",
          "endIntronOffset": 320,
          "referenceAllele": "G",
          "start": 1820,
          "startIntronDirection": "-",
          "startIntronOffset": 321
        }
      ],
      "hgvs": [
        "XR_922418.1:n.1821-321G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS119480"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1214,
          "endIntronDirection": "-",
          "endIntronOffset": 320,
          "referenceAllele": "G",
          "start": 1214,
          "startIntronDirection": "-",
          "startIntronOffset": 321
        }
      ],
      "hgvs": [
        "XR_922419.1:n.1215-321G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS119481"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1686,
          "endIntronDirection": "-",
          "endIntronOffset": 320,
          "referenceAllele": "G",
          "start": 1686,
          "startIntronDirection": "-",
          "startIntronOffset": 321
        }
      ],
      "hgvs": [
        "XR_922420.1:n.1687-321G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS119482"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5161,
          "referenceAllele": "C",
          "start": 5160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "XM_005245478.3:c.5047C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245535.1:p.Arg1683Ter",
        "hgvsWellDefined": "XP_005245535.1:p.Arg1683_Leu1854delinsAlaLeuGlyGlnProCysArgValLeuGlyProHisSerLysProCysValGluMetLeuLysGlyLeuLeuThrGlnArgAlaMetProArgGlyGlnAlaProProAlaProCysGlnCysProArgValGluSerSerMetProGluAspArgLysSerSerThrProGlySerLeuHisGluGluThrProHisSerArgSerThrArgGluAsnThrSerArgCysSerAlaProAlaThrAlaLeuLeuIleGlnLysAlaLeuValArgGlyGlyLeuGlyThrLeuAlaAlaAspAlaAsnPheIleMetAlaThrGlyGlnAlaLeuAlaAspAlaCysGlnMetGluProGluGluValGluIleMetAlaThrGluLeuLeuLysGlyArgGluAlaProGluGlyMetAlaSerSerLeuGlyCysLeuAsnLeuGlySerSerLeuGlySerLeuAspGlnHisGlnGlySerGlnGluThrLeuIleProProArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532434"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1651,
          "endIntronDirection": "-",
          "endIntronOffset": 320,
          "referenceAllele": "G",
          "start": 1651,
          "startIntronDirection": "-",
          "startIntronOffset": 321
        }
      ],
      "hgvs": [
        "XR_001738364.1:n.1652-321G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS588904"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1561,
          "endIntronDirection": "-",
          "endIntronOffset": 320,
          "referenceAllele": "G",
          "start": 1561,
          "startIntronDirection": "-",
          "startIntronOffset": 321
        }
      ],
      "hgvs": [
        "XR_001738365.1:n.1562-321G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS588905"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1354,
          "endIntronDirection": "-",
          "endIntronOffset": 320,
          "referenceAllele": "G",
          "start": 1354,
          "startIntronDirection": "-",
          "startIntronOffset": 321
        }
      ],
      "hgvs": [
        "XR_001738366.1:n.1355-321G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS588906"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1567,
          "endIntronDirection": "-",
          "endIntronOffset": 320,
          "referenceAllele": "G",
          "start": 1567,
          "startIntronDirection": "-",
          "startIntronOffset": 321
        }
      ],
      "hgvs": [
        "XR_001738367.1:n.1568-321G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS588907"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1463,
          "endIntronDirection": "-",
          "endIntronOffset": 320,
          "referenceAllele": "G",
          "start": 1463,
          "startIntronDirection": "-",
          "startIntronOffset": 321
        }
      ],
      "hgvs": [
        "XR_001738368.1:n.1464-321G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS588908"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1239,
          "endIntronDirection": "-",
          "endIntronOffset": 320,
          "referenceAllele": "G",
          "start": 1239,
          "startIntronDirection": "-",
          "startIntronOffset": 321
        }
      ],
      "hgvs": [
        "XR_001738369.1:n.1240-321G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS588909"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1191,
          "endIntronDirection": "-",
          "endIntronOffset": 320,
          "referenceAllele": "G",
          "start": 1191,
          "startIntronDirection": "-",
          "startIntronOffset": 321
        }
      ],
      "hgvs": [
        "XR_001738370.1:n.1192-321G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS588910"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 585,
          "endIntronDirection": "-",
          "endIntronOffset": 320,
          "referenceAllele": "G",
          "start": 585,
          "startIntronDirection": "-",
          "startIntronOffset": 321
        }
      ],
      "hgvs": [
        "XR_001738371.1:n.586-321G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS588911"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1057,
          "endIntronDirection": "-",
          "endIntronOffset": 320,
          "referenceAllele": "G",
          "start": 1057,
          "startIntronDirection": "-",
          "startIntronOffset": 321
        }
      ],
      "hgvs": [
        "XR_001738372.1:n.1058-321G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS588912"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2112,
          "endIntronDirection": "-",
          "endIntronOffset": 320,
          "referenceAllele": "G",
          "start": 2112,
          "startIntronDirection": "-",
          "startIntronOffset": 321
        }
      ],
      "hgvs": [
        "XR_922405.3:n.2113-321G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS607035"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2300,
          "endIntronDirection": "-",
          "endIntronOffset": 320,
          "referenceAllele": "G",
          "start": 2300,
          "startIntronDirection": "-",
          "startIntronOffset": 321
        }
      ],
      "hgvs": [
        "XR_922407.3:n.2301-321G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS607036"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1373,
          "endIntronDirection": "-",
          "endIntronOffset": 320,
          "referenceAllele": "G",
          "start": 1373,
          "startIntronDirection": "-",
          "startIntronOffset": 321
        }
      ],
      "hgvs": [
        "XR_922408.2:n.1374-321G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS607037"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1382,
          "endIntronDirection": "-",
          "endIntronOffset": 320,
          "referenceAllele": "G",
          "start": 1382,
          "startIntronDirection": "-",
          "startIntronOffset": 321
        }
      ],
      "hgvs": [
        "XR_922410.2:n.1383-321G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS607038"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1291,
          "endIntronDirection": "-",
          "endIntronOffset": 320,
          "referenceAllele": "G",
          "start": 1291,
          "startIntronDirection": "-",
          "startIntronOffset": 321
        }
      ],
      "hgvs": [
        "XR_922414.2:n.1292-321G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS607039"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1300,
          "endIntronDirection": "-",
          "endIntronOffset": 320,
          "referenceAllele": "G",
          "start": 1300,
          "startIntronDirection": "-",
          "startIntronOffset": 321
        }
      ],
      "hgvs": [
        "XR_922416.2:n.1301-321G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS607040"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1996,
          "endIntronDirection": "-",
          "endIntronOffset": 320,
          "referenceAllele": "G",
          "start": 1996,
          "startIntronDirection": "-",
          "startIntronOffset": 321
        }
      ],
      "hgvs": [
        "XR_922417.3:n.1997-321G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS607041"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645416109",
      "coordinates": [
        {
          "allele": "T",
          "end": 5191,
          "referenceAllele": "C",
          "start": 5190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "NM_000069.3:c.5104C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000060.2:p.Arg1702Ter",
        "hgvsWellDefined": "NP_000060.2:p.Arg1702_Leu1873delinsAlaLeuGlyGlnProCysArgValLeuGlyProHisSerLysProCysValGluMetLeuLysGlyLeuLeuThrGlnArgAlaMetProArgGlyGlnAlaProProAlaProCysGlnCysProArgValGluSerSerMetProGluAspArgLysSerSerThrProGlySerLeuHisGluGluThrProHisSerArgSerThrArgGluAsnThrSerArgCysSerAlaProAlaThrAlaLeuLeuIleGlnLysAlaLeuValArgGlyGlyLeuGlyThrLeuAlaAlaAspAlaAsnPheIleMetAlaThrGlyGlnAlaLeuAlaAspAlaCysGlnMetGluProGluGluValGluIleMetAlaThrGluLeuLeuLysGlyArgGluAlaProGluGlyMetAlaSerSerLeuGlyCysLeuAsnLeuGlySerSerLeuGlySerLeuAspGlnHisGlnGlySerGlnGluThrLeuIleProProArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662308",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000362061.4:c.5104C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000069.3:c.5104C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355192.3:p.Arg1702Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000060.2:p.Arg1702Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}