{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5429919",
  "communityStandardTitle": [
    "NM_201596.3(CACNB2):c.1140T>C (p.His380=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=258639[alleleid]",
        "alleleId": 258639,
        "preferredName": "NM_201596.3(CACNB2):c.1140T>C (p.His380=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/264300",
        "RCV": [
          "RCV000247502",
          "RCV000586204",
          "RCV001086312"
        ],
        "variationId": 264300
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/10-18823090-T-C",
        "id": "10-18823090-T-C",
        "variant": "10:18823090 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.18823090T>C?assembly=hg19",
        "id": "chr10:g.18823090T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.18534161T>C?assembly=hg38",
        "id": "chr10:g.18534161T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/151199943",
        "rs": 151199943
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-18823090-T-C?dataset=gnomad_r2_1",
        "id": "10-18823090-T-C",
        "variant": "10:18823090 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-18534161-T-C?dataset=gnomad_r3",
        "id": "10-18534161-T-C",
        "variant": "10:18534161 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-18534161-T-C?dataset=gnomad_r4",
        "id": "10-18534161-T-C",
        "variant": "10:18534161 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 18534161,
          "referenceAllele": "T",
          "start": 18534160
        }
      ],
      "hgvs": [
        "NC_000010.11:g.18534161T>C",
        "CM000672.2:g.18534161T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 18823090,
          "referenceAllele": "T",
          "start": 18823089
        }
      ],
      "hgvs": [
        "NC_000010.10:g.18823090T>C",
        "CM000672.1:g.18823090T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 18863096,
          "referenceAllele": "T",
          "start": 18863095
        }
      ],
      "hgvs": [
        "NC_000010.9:g.18863096T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 398485,
          "referenceAllele": "T",
          "start": 398484
        }
      ],
      "hgvs": [
        "NG_016195.1:g.398485T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003001"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1453,
          "referenceAllele": "T",
          "start": 1452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000377315.6:c.996T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366532.4:p.His332="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904553"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1409,
          "referenceAllele": "T",
          "start": 1408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000377319.9:c.861T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366536.3:p.His287="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904554"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1428,
          "referenceAllele": "T",
          "start": 1427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000645287.2:c.984T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496203.1:p.His328="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906436"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1278,
          "referenceAllele": "T",
          "start": 1277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000282343.13:c.1056T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000282343.8:p.His352="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743659"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1453,
          "referenceAllele": "T",
          "start": 1452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000324631.13:c.1140T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000320025.8:p.His380="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746643",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000324631.13:c.1140T>C"
          },
          "RefSeq": {
            "hgvs": "NM_201596.3:c.1140T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000320025.8:p.His380="
          },
          "RefSeq": {
            "hgvs": "NP_963890.2:p.His380="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1453,
          "referenceAllele": "T",
          "start": 1452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000377315.5:c.996T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366532.4:p.His332="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751901"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1051,
          "referenceAllele": "T",
          "start": 1050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000377319.8:c.861T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366536.3:p.His287="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751903"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1196,
          "referenceAllele": "T",
          "start": 1195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000377329.10:c.978T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366546.4:p.His326="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751905",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000377329.10:c.978T>C"
          },
          "RefSeq": {
            "hgvs": "NM_201590.3:c.978T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000366546.4:p.His326="
          },
          "RefSeq": {
            "hgvs": "NP_963884.2:p.His326="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 920,
          "referenceAllele": "T",
          "start": 919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000377331.8:c.861T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366548.4:p.His287="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751906"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1309,
          "referenceAllele": "T",
          "start": 1308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000643096.2:c.942T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494209.2:p.His314="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767088"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1351,
          "referenceAllele": "T",
          "start": 1350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000645287.1:c.984T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496203.1:p.His328="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768270"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1300,
          "referenceAllele": "T",
          "start": 1299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000647168.2:c.*281T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495854.2:n.*281T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769273"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1280,
          "referenceAllele": "T",
          "start": 1279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000650685.1:c.882T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498460.1:p.His294="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771252"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1223,
          "referenceAllele": "T",
          "start": 1222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000651330.1:c.*414T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498457.1:n.*414T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771604"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 697,
          "referenceAllele": "T",
          "start": 696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000651468.1:c.697T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498352.1:n.697T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771684"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1403,
          "referenceAllele": "T",
          "start": 1402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000651928.1:c.*379T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499177.1:n.*379T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771934"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1107,
          "referenceAllele": "T",
          "start": 1106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000652391.1:c.960T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498938.1:p.His320="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772183"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1393,
          "referenceAllele": "T",
          "start": 1392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000652478.1:c.*240T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498812.1:n.*240T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772233"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1278,
          "referenceAllele": "T",
          "start": 1277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000282343.12:c.1056T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000282343.8:p.His352="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253073"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1200,
          "referenceAllele": "T",
          "start": 1199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000324631.11:c.1140T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000320025.7:p.His380="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258372"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1068,
          "referenceAllele": "T",
          "start": 1067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000352115.10:c.1068T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344474.6:p.His356="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262833"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1215,
          "referenceAllele": "T",
          "start": 1214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000377315.4:c.996T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366532.4:p.His332="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271551"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 870,
          "referenceAllele": "T",
          "start": 869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000377319.7:c.861T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366536.3:p.His287="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271553"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 456,
          "endIntronDirection": "-",
          "endIntronOffset": 1939,
          "referenceAllele": "T",
          "start": 456,
          "startIntronDirection": "-",
          "startIntronOffset": 1940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000377328.5:c.457-1940T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366545.1:n.457-1940T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271556"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1168,
          "referenceAllele": "T",
          "start": 1167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000377329.8:c.978T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366546.4:p.His326="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271557"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 984,
          "referenceAllele": "T",
          "start": 983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000377331.6:c.984T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366548.2:p.His328="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271558"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1476,
          "referenceAllele": "T",
          "start": 1475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000396576.6:c.975T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379821.2:p.His325="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277335"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 844,
          "referenceAllele": "T",
          "start": 843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000612134.4:c.844T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480563.1:n.844T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401172"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 130,
          "endIntronDirection": "-",
          "endIntronOffset": 5102,
          "referenceAllele": "T",
          "start": 130,
          "startIntronDirection": "-",
          "startIntronOffset": 5103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000612743.1:c.35-5103T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478676.1:n.35-5103T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401437"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 792,
          "endIntronDirection": "-",
          "endIntronOffset": 1939,
          "referenceAllele": "T",
          "start": 792,
          "startIntronDirection": "-",
          "startIntronOffset": 1940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000615785.4:c.292-1940T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480260.1:n.292-1940T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402763"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1404,
          "referenceAllele": "T",
          "start": 1403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000617363.4:c.903T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479756.1:p.His301="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403447"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825249962",
      "coordinates": [
        {
          "allele": "C",
          "end": 1590,
          "referenceAllele": "T",
          "start": 1589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "NM_000724.3:c.975T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000715.2:p.His325="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006761"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826051443",
      "coordinates": [
        {
          "allele": "C",
          "end": 1309,
          "referenceAllele": "T",
          "start": 1308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "NM_001167945.1:c.942T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161417.1:p.His314="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015030"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830463769",
      "coordinates": [
        {
          "allele": "C",
          "end": 1444,
          "referenceAllele": "T",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "NM_201570.2:c.996T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_963864.1:p.His332="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045068"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830464597",
      "coordinates": [
        {
          "allele": "C",
          "end": 1423,
          "referenceAllele": "T",
          "start": 1422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "NM_201571.3:c.1056T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_963865.2:p.His352="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045069"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830465418",
      "coordinates": [
        {
          "allele": "C",
          "end": 1351,
          "referenceAllele": "T",
          "start": 1350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "NM_201572.3:c.984T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_963866.2:p.His328="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045070"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830466393",
      "coordinates": [
        {
          "allele": "C",
          "end": 1220,
          "referenceAllele": "T",
          "start": 1219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "NM_201590.2:c.978T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_963884.2:p.His326="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045074"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830467360",
      "coordinates": [
        {
          "allele": "C",
          "end": 1086,
          "referenceAllele": "T",
          "start": 1085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "NM_201593.2:c.1026T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_963887.2:p.His342="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045077"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830468125",
      "coordinates": [
        {
          "allele": "C",
          "end": 1200,
          "referenceAllele": "T",
          "start": 1199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "NM_201596.2:c.1140T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_963890.2:p.His380="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045079"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830469187",
      "coordinates": [
        {
          "allele": "C",
          "end": 1128,
          "referenceAllele": "T",
          "start": 1127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "NM_201597.2:c.1068T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_963891.1:p.His356="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045080"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1339,
          "referenceAllele": "T",
          "start": 1338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "XM_005252588.2:c.882T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252645.1:p.His294="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059998"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 410,
          "referenceAllele": "T",
          "start": 409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "XM_005252591.2:c.300T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252648.1:p.His100="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059999"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 975,
          "referenceAllele": "T",
          "start": 974
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "XM_006717502.2:c.960T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717565.1:p.His320="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072194"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1148,
          "referenceAllele": "T",
          "start": 1147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "XM_011519659.1:c.906T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517961.1:p.His302="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086831"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1691,
          "referenceAllele": "T",
          "start": 1690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "XM_011519660.1:c.861T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517962.1:p.His287="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086832"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 72,
          "endIntronDirection": "+",
          "endIntronOffset": 5033,
          "referenceAllele": "A",
          "start": 72,
          "startIntronDirection": "+",
          "startIntronOffset": 5032
        }
      ],
      "hgvs": [
        "XR_930717.1:n.72+5033A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS126845"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827282443",
      "coordinates": [
        {
          "allele": "C",
          "end": 1564,
          "referenceAllele": "T",
          "start": 1563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "NM_001330060.1:c.861T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001316989.1:p.His287="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516479"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1339,
          "referenceAllele": "T",
          "start": 1338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "XM_005252588.4:c.882T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252645.1:p.His294="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533827"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 395,
          "referenceAllele": "T",
          "start": 394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "XM_005252591.3:c.300T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252648.1:p.His100="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533828"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1253,
          "referenceAllele": "T",
          "start": 1252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "XM_006717502.3:c.960T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717565.1:p.His320="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539428"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1148,
          "referenceAllele": "T",
          "start": 1147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "XM_011519659.2:c.906T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517961.1:p.His302="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545443"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1308,
          "referenceAllele": "T",
          "start": 1307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "XM_017016625.1:c.300T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016872114.1:p.His100="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569013"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2423,
          "endIntronDirection": "+",
          "endIntronOffset": 7908,
          "referenceAllele": "A",
          "start": 2423,
          "startIntronDirection": "+",
          "startIntronOffset": 7907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023529",
      "geneNCBI_id": 221078,
      "geneSymbol": "NSUN6",
      "hgvs": [
        "XR_001747060.1:n.2423+7908A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS595274"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1265,
          "referenceAllele": "T",
          "start": 1264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "XR_001747198.1:n.1265T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS595388"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825249962",
      "coordinates": [
        {
          "allele": "C",
          "end": 1523,
          "referenceAllele": "T",
          "start": 1522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "NM_000724.4:c.975T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000715.2:p.His325="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674934"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826051443",
      "coordinates": [
        {
          "allele": "C",
          "end": 1698,
          "referenceAllele": "T",
          "start": 1697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "NM_001167945.2:c.942T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161417.1:p.His314="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678564"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827282443",
      "coordinates": [
        {
          "allele": "C",
          "end": 1409,
          "referenceAllele": "T",
          "start": 1408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "NM_001330060.2:c.861T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001316989.1:p.His287="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686738"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830463769",
      "coordinates": [
        {
          "allele": "C",
          "end": 1453,
          "referenceAllele": "T",
          "start": 1452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "NM_201570.3:c.996T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_963864.1:p.His332="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701575"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830464597",
      "coordinates": [
        {
          "allele": "C",
          "end": 1812,
          "referenceAllele": "T",
          "start": 1811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "NM_201571.4:c.1056T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_963865.2:p.His352="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701576"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830465418",
      "coordinates": [
        {
          "allele": "C",
          "end": 1740,
          "referenceAllele": "T",
          "start": 1739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "NM_201572.4:c.984T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_963866.2:p.His328="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701577"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830466393",
      "coordinates": [
        {
          "allele": "C",
          "end": 1196,
          "referenceAllele": "T",
          "start": 1195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "NM_201590.3:c.978T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_963884.2:p.His326="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701580",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000377329.10:c.978T>C"
          },
          "RefSeq": {
            "hgvs": "NM_201590.3:c.978T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000366546.4:p.His326="
          },
          "RefSeq": {
            "hgvs": "NP_963884.2:p.His326="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830467360",
      "coordinates": [
        {
          "allele": "C",
          "end": 1339,
          "referenceAllele": "T",
          "start": 1338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "NM_201593.3:c.1026T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_963887.2:p.His342="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701581"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830468125",
      "coordinates": [
        {
          "allele": "C",
          "end": 1453,
          "referenceAllele": "T",
          "start": 1452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "NM_201596.3:c.1140T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_963890.2:p.His380="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701583",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000324631.13:c.1140T>C"
          },
          "RefSeq": {
            "hgvs": "NM_201596.3:c.1140T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000320025.8:p.His380="
          },
          "RefSeq": {
            "hgvs": "NP_963890.2:p.His380="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830469187",
      "coordinates": [
        {
          "allele": "C",
          "end": 1381,
          "referenceAllele": "T",
          "start": 1380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "NM_201597.3:c.1068T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_963891.1:p.His356="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701584"
    }
  ],
  "type": "nucleotide"
}