{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA13260770",
  "communityStandardTitle": [
    "NM_201596.3(CACNB2):c.214-1215G>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1219682[alleleid]",
        "alleleId": 1219682,
        "preferredName": "NM_201596.3(CACNB2):c.214-1215G>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1232266",
        "RCV": [
          "RCV001612898"
        ],
        "variationId": 1232266
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.18689638G>T?assembly=hg19",
        "id": "chr10:g.18689638G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.18400709G>T?assembly=hg38",
        "id": "chr10:g.18400709G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/61839258",
        "rs": 61839258
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-18689638-G-T?dataset=gnomad_r2_1",
        "id": "10-18689638-G-T",
        "variant": "10:18689638 G / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-18400709-G-T?dataset=gnomad_r3",
        "id": "10-18400709-G-T",
        "variant": "10:18400709 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-18400709-G-T?dataset=gnomad_r4",
        "id": "10-18400709-G-T",
        "variant": "10:18400709 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 18400709,
          "referenceAllele": "G",
          "start": 18400708
        }
      ],
      "hgvs": [
        "NC_000010.11:g.18400709G>T",
        "CM000672.2:g.18400709G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 18689638,
          "referenceAllele": "G",
          "start": 18689637
        }
      ],
      "hgvs": [
        "NC_000010.10:g.18689638G>T",
        "CM000672.1:g.18689638G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 18729644,
          "referenceAllele": "G",
          "start": 18729643
        }
      ],
      "hgvs": [
        "NC_000010.9:g.18729644G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 265033,
          "referenceAllele": "G",
          "start": 265032
        }
      ],
      "hgvs": [
        "NG_016195.1:g.265033G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003001"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 135,
          "referenceAllele": "G",
          "start": 134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000377315.6:c.-323G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366532.4:n.-323G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904553"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 596,
          "endIntronDirection": "-",
          "endIntronOffset": 1214,
          "referenceAllele": "G",
          "start": 596,
          "startIntronDirection": "-",
          "startIntronOffset": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000377319.9:c.49-1215G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366536.3:n.49-1215G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904554"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 573,
          "endIntronDirection": "-",
          "endIntronOffset": 1214,
          "referenceAllele": "G",
          "start": 573,
          "startIntronDirection": "-",
          "startIntronOffset": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000645287.2:c.130-1215G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496203.1:n.130-1215G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906436"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 351,
          "endIntronDirection": "-",
          "endIntronOffset": 1214,
          "referenceAllele": "G",
          "start": 351,
          "startIntronDirection": "-",
          "startIntronOffset": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000282343.13:c.130-1215G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000282343.8:n.130-1215G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743659"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 526,
          "endIntronDirection": "-",
          "endIntronOffset": 1214,
          "referenceAllele": "G",
          "start": 526,
          "startIntronDirection": "-",
          "startIntronOffset": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000324631.13:c.214-1215G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000320025.8:n.214-1215G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746643",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000324631.13:c.214-1215G>T"
          },
          "RefSeq": {
            "hgvs": "NM_201596.3:c.214-1215G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000320025.8:n.214-1215G>T"
          },
          "RefSeq": {
            "hgvs": "NP_963890.2:n.214-1215G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 135,
          "referenceAllele": "G",
          "start": 134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000377315.5:c.-323G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366532.4:n.-323G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751901"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 238,
          "endIntronDirection": "-",
          "endIntronOffset": 1214,
          "referenceAllele": "G",
          "start": 238,
          "startIntronDirection": "-",
          "startIntronOffset": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000377319.8:c.49-1215G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366536.3:n.49-1215G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751903"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 269,
          "endIntronDirection": "-",
          "endIntronOffset": 1214,
          "referenceAllele": "G",
          "start": 269,
          "startIntronDirection": "-",
          "startIntronOffset": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000377329.10:c.52-1215G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366546.4:n.52-1215G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751905",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000377329.10:c.52-1215G>T"
          },
          "RefSeq": {
            "hgvs": "NM_201590.3:c.52-1215G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000366546.4:n.52-1215G>T"
          },
          "RefSeq": {
            "hgvs": "NP_963884.2:n.52-1215G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 107,
          "endIntronDirection": "-",
          "endIntronOffset": 1214,
          "referenceAllele": "G",
          "start": 107,
          "startIntronDirection": "-",
          "startIntronOffset": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000377331.8:c.49-1215G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366548.4:n.49-1215G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751906"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 496,
          "endIntronDirection": "-",
          "endIntronOffset": 1214,
          "referenceAllele": "G",
          "start": 496,
          "startIntronDirection": "-",
          "startIntronOffset": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000643096.2:c.130-1215G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494209.2:n.130-1215G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767088"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23,
          "referenceAllele": "G",
          "start": 22
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000643330.1:n.23G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767219"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 428,
          "endIntronDirection": "-",
          "endIntronOffset": 1214,
          "referenceAllele": "G",
          "start": 428,
          "startIntronDirection": "-",
          "startIntronOffset": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000644004.1:c.130-1215G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495509.1:n.130-1215G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767587"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 496,
          "endIntronDirection": "-",
          "endIntronOffset": 1214,
          "referenceAllele": "G",
          "start": 496,
          "startIntronDirection": "-",
          "startIntronOffset": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000645287.1:c.130-1215G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496203.1:n.130-1215G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768270"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 34,
          "referenceAllele": "G",
          "start": 33
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000647168.2:c.-323G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495854.2:n.-323G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769273"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 76,
          "referenceAllele": "G",
          "start": 75
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000650685.1:c.-323G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498460.1:n.-323G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771252"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 34,
          "referenceAllele": "G",
          "start": 33
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000651330.1:c.-323G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498457.1:n.-323G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771604"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3,
          "referenceAllele": "G",
          "start": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000651928.1:c.-323G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499177.1:n.-323G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771934"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 180,
          "endIntronDirection": "-",
          "endIntronOffset": 1214,
          "referenceAllele": "G",
          "start": 180,
          "startIntronDirection": "-",
          "startIntronOffset": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000652391.1:c.34-1215G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498938.1:n.34-1215G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772183"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 21,
          "referenceAllele": "G",
          "start": 20
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000652478.1:c.-323G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498812.1:n.-323G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772233"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 351,
          "endIntronDirection": "-",
          "endIntronOffset": 1214,
          "referenceAllele": "G",
          "start": 351,
          "startIntronDirection": "-",
          "startIntronOffset": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000282343.12:c.130-1215G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000282343.8:n.130-1215G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253073"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 273,
          "endIntronDirection": "-",
          "endIntronOffset": 1214,
          "referenceAllele": "G",
          "start": 273,
          "startIntronDirection": "-",
          "startIntronOffset": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000324631.11:c.214-1215G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000320025.7:n.214-1215G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258372"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 213,
          "endIntronDirection": "-",
          "endIntronOffset": 1214,
          "referenceAllele": "G",
          "start": 213,
          "startIntronDirection": "-",
          "startIntronOffset": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000352115.10:c.214-1215G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344474.6:n.214-1215G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262833"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 57,
          "endIntronDirection": "-",
          "endIntronOffset": 1214,
          "referenceAllele": "G",
          "start": 57,
          "startIntronDirection": "-",
          "startIntronOffset": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000377319.7:c.49-1215G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366536.3:n.49-1215G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271553"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 213,
          "endIntronDirection": "-",
          "endIntronOffset": 1214,
          "referenceAllele": "G",
          "start": 213,
          "startIntronDirection": "-",
          "startIntronOffset": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000377328.5:c.214-1215G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366545.1:n.214-1215G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271556"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 241,
          "endIntronDirection": "-",
          "endIntronOffset": 1214,
          "referenceAllele": "G",
          "start": 241,
          "startIntronDirection": "-",
          "startIntronOffset": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000377329.8:c.52-1215G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366546.4:n.52-1215G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271557"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 129,
          "endIntronDirection": "-",
          "endIntronOffset": 1214,
          "referenceAllele": "G",
          "start": 129,
          "startIntronDirection": "-",
          "startIntronOffset": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000377331.6:c.130-1215G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366548.2:n.130-1215G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271558"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 549,
          "endIntronDirection": "-",
          "endIntronOffset": 1214,
          "referenceAllele": "G",
          "start": 549,
          "startIntronDirection": "-",
          "startIntronOffset": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000396576.6:c.49-1215G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379821.2:n.49-1215G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277335"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 261,
          "endIntronDirection": "-",
          "endIntronOffset": 1214,
          "referenceAllele": "G",
          "start": 261,
          "startIntronDirection": "-",
          "startIntronOffset": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000498816.1:n.262-1215G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334741"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 51,
          "endIntronDirection": "-",
          "endIntronOffset": 1214,
          "referenceAllele": "G",
          "start": 51,
          "startIntronDirection": "-",
          "startIntronOffset": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000612134.4:c.52-1215G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480563.1:n.52-1215G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401172"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 56,
          "endIntronDirection": "-",
          "endIntronOffset": 1214,
          "referenceAllele": "G",
          "start": 56,
          "startIntronDirection": "-",
          "startIntronOffset": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000612743.1:c.-40-1215G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478676.1:n.-40-1215G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401437"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 549,
          "endIntronDirection": "-",
          "endIntronOffset": 1214,
          "referenceAllele": "G",
          "start": 549,
          "startIntronDirection": "-",
          "startIntronOffset": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000615785.4:c.49-1215G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480260.1:n.49-1215G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402763"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 549,
          "endIntronDirection": "-",
          "endIntronOffset": 1214,
          "referenceAllele": "G",
          "start": 549,
          "startIntronDirection": "-",
          "startIntronOffset": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000617363.4:c.49-1215G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479756.1:n.49-1215G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403447"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 663,
          "endIntronDirection": "-",
          "endIntronOffset": 1214,
          "referenceAllele": "G",
          "start": 663,
          "startIntronDirection": "-",
          "startIntronOffset": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "NM_000724.3:c.49-1215G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000715.2:n.49-1215G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006761"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 496,
          "endIntronDirection": "-",
          "endIntronOffset": 1214,
          "referenceAllele": "G",
          "start": 496,
          "startIntronDirection": "-",
          "startIntronOffset": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "NM_001167945.1:c.130-1215G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161417.1:n.130-1215G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015030"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 126,
          "referenceAllele": "G",
          "start": 125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "NM_201570.2:c.-323G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_963864.1:n.-323G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045068"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 496,
          "endIntronDirection": "-",
          "endIntronOffset": 1214,
          "referenceAllele": "G",
          "start": 496,
          "startIntronDirection": "-",
          "startIntronOffset": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "NM_201571.3:c.130-1215G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_963865.2:n.130-1215G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045069"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 496,
          "endIntronDirection": "-",
          "endIntronOffset": 1214,
          "referenceAllele": "G",
          "start": 496,
          "startIntronDirection": "-",
          "startIntronOffset": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "NM_201572.3:c.130-1215G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_963866.2:n.130-1215G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045070"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 293,
          "endIntronDirection": "-",
          "endIntronOffset": 1214,
          "referenceAllele": "G",
          "start": 293,
          "startIntronDirection": "-",
          "startIntronOffset": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "NM_201590.2:c.52-1215G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_963884.2:n.52-1215G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045074"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 273,
          "endIntronDirection": "-",
          "endIntronOffset": 1214,
          "referenceAllele": "G",
          "start": 273,
          "startIntronDirection": "-",
          "startIntronOffset": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "NM_201593.2:c.214-1215G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_963887.2:n.214-1215G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045077"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 273,
          "endIntronDirection": "-",
          "endIntronOffset": 1214,
          "referenceAllele": "G",
          "start": 273,
          "startIntronDirection": "-",
          "startIntronOffset": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "NM_201596.2:c.214-1215G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_963890.2:n.214-1215G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045079"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 273,
          "endIntronDirection": "-",
          "endIntronOffset": 1214,
          "referenceAllele": "G",
          "start": 273,
          "startIntronDirection": "-",
          "startIntronOffset": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "NM_201597.2:c.214-1215G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_963891.1:n.214-1215G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045080"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 135,
          "referenceAllele": "G",
          "start": 134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "XM_005252588.2:c.-323G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252645.1:n.-323G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059998"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 48,
          "endIntronDirection": "-",
          "endIntronOffset": 1214,
          "referenceAllele": "G",
          "start": 48,
          "startIntronDirection": "-",
          "startIntronOffset": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "XM_006717502.2:c.34-1215G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717565.1:n.34-1215G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072194"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 293,
          "endIntronDirection": "-",
          "endIntronOffset": 1214,
          "referenceAllele": "G",
          "start": 293,
          "startIntronDirection": "-",
          "startIntronOffset": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "XM_011519659.1:c.52-1215G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517961.1:n.52-1215G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086831"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 878,
          "endIntronDirection": "-",
          "endIntronOffset": 1214,
          "referenceAllele": "G",
          "start": 878,
          "startIntronDirection": "-",
          "startIntronOffset": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "XM_011519660.1:c.49-1215G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517962.1:n.49-1215G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086832"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 751,
          "endIntronDirection": "-",
          "endIntronOffset": 1214,
          "referenceAllele": "G",
          "start": 751,
          "startIntronDirection": "-",
          "startIntronOffset": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "NM_001330060.1:c.49-1215G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001316989.1:n.49-1215G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516479"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 135,
          "referenceAllele": "G",
          "start": 134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "XM_005252588.4:c.-323G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252645.1:n.-323G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533827"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 326,
          "endIntronDirection": "-",
          "endIntronOffset": 1214,
          "referenceAllele": "G",
          "start": 326,
          "startIntronDirection": "-",
          "startIntronOffset": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "XM_006717502.3:c.34-1215G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717565.1:n.34-1215G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539428"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 293,
          "endIntronDirection": "-",
          "endIntronOffset": 1214,
          "referenceAllele": "G",
          "start": 293,
          "startIntronDirection": "-",
          "startIntronOffset": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "XM_011519659.2:c.52-1215G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517961.1:n.52-1215G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545443"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 42,
          "referenceAllele": "G",
          "start": 41
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "XM_017016625.1:c.-967G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016872114.1:n.-967G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 390,
          "endIntronDirection": "-",
          "endIntronOffset": 1214,
          "referenceAllele": "G",
          "start": 390,
          "startIntronDirection": "-",
          "startIntronOffset": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "XR_001747198.1:n.391-1215G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS595388"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 596,
          "endIntronDirection": "-",
          "endIntronOffset": 1214,
          "referenceAllele": "G",
          "start": 596,
          "startIntronDirection": "-",
          "startIntronOffset": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "NM_000724.4:c.49-1215G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000715.2:n.49-1215G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674934"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 885,
          "endIntronDirection": "-",
          "endIntronOffset": 1214,
          "referenceAllele": "G",
          "start": 885,
          "startIntronDirection": "-",
          "startIntronOffset": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "NM_001167945.2:c.130-1215G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161417.1:n.130-1215G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678564"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 596,
          "endIntronDirection": "-",
          "endIntronOffset": 1214,
          "referenceAllele": "G",
          "start": 596,
          "startIntronDirection": "-",
          "startIntronOffset": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "NM_001330060.2:c.49-1215G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001316989.1:n.49-1215G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686738"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 135,
          "referenceAllele": "G",
          "start": 134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "NM_201570.3:c.-323G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_963864.1:n.-323G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701575"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 885,
          "endIntronDirection": "-",
          "endIntronOffset": 1214,
          "referenceAllele": "G",
          "start": 885,
          "startIntronDirection": "-",
          "startIntronOffset": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "NM_201571.4:c.130-1215G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_963865.2:n.130-1215G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701576"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 885,
          "endIntronDirection": "-",
          "endIntronOffset": 1214,
          "referenceAllele": "G",
          "start": 885,
          "startIntronDirection": "-",
          "startIntronOffset": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "NM_201572.4:c.130-1215G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_963866.2:n.130-1215G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701577"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 269,
          "endIntronDirection": "-",
          "endIntronOffset": 1214,
          "referenceAllele": "G",
          "start": 269,
          "startIntronDirection": "-",
          "startIntronOffset": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "NM_201590.3:c.52-1215G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_963884.2:n.52-1215G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701580",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000377329.10:c.52-1215G>T"
          },
          "RefSeq": {
            "hgvs": "NM_201590.3:c.52-1215G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000366546.4:n.52-1215G>T"
          },
          "RefSeq": {
            "hgvs": "NP_963884.2:n.52-1215G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 526,
          "endIntronDirection": "-",
          "endIntronOffset": 1214,
          "referenceAllele": "G",
          "start": 526,
          "startIntronDirection": "-",
          "startIntronOffset": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "NM_201593.3:c.214-1215G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_963887.2:n.214-1215G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701581"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 526,
          "endIntronDirection": "-",
          "endIntronOffset": 1214,
          "referenceAllele": "G",
          "start": 526,
          "startIntronDirection": "-",
          "startIntronOffset": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "NM_201596.3:c.214-1215G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_963890.2:n.214-1215G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701583",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000324631.13:c.214-1215G>T"
          },
          "RefSeq": {
            "hgvs": "NM_201596.3:c.214-1215G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000320025.8:n.214-1215G>T"
          },
          "RefSeq": {
            "hgvs": "NP_963890.2:n.214-1215G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 526,
          "endIntronDirection": "-",
          "endIntronOffset": 1214,
          "referenceAllele": "G",
          "start": 526,
          "startIntronDirection": "-",
          "startIntronOffset": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "NM_201597.3:c.214-1215G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_963891.1:n.214-1215G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701584"
    }
  ],
  "type": "nucleotide"
}