{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1365354007",
  "communityStandardTitle": [
    "NM_001128840.3(CACNA1D):c.483+9707G="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/312486",
        "rs": 312486
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 53511427,
          "referenceAllele": "G",
          "start": 53511426
        }
      ],
      "hgvs": [
        "NC_000003.12:g.53511427G=",
        "CM000665.2:g.53511427G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 53545454,
          "referenceAllele": "G",
          "start": 53545453
        }
      ],
      "hgvs": [
        "NC_000003.11:g.53545454G=",
        "CM000665.1:g.53545454G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 53520494,
          "referenceAllele": "G",
          "start": 53520493
        }
      ],
      "hgvs": [
        "NC_000003.10:g.53520494G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 21379,
          "referenceAllele": "G",
          "start": 21378
        }
      ],
      "hgvs": [
        "NG_032999.1:g.21379G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005338"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1039,
          "endIntronDirection": "+",
          "endIntronOffset": 9707,
          "referenceAllele": "G",
          "start": 1039,
          "startIntronDirection": "+",
          "startIntronOffset": 9706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001391",
      "geneNCBI_id": 776,
      "geneSymbol": "CACNA1D",
      "hgvs": [
        "ENST00000481478.2:c.483+9707G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418014.2:n.483+9707G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905282"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1039,
          "endIntronDirection": "+",
          "endIntronOffset": 9707,
          "referenceAllele": "G",
          "start": 1039,
          "startIntronDirection": "+",
          "startIntronOffset": 9706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001391",
      "geneNCBI_id": 776,
      "geneSymbol": "CACNA1D",
      "hgvs": [
        "ENST00000636627.2:c.483+9707G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490889.2:n.483+9707G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906357"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1039,
          "endIntronDirection": "+",
          "endIntronOffset": 9707,
          "referenceAllele": "G",
          "start": 1039,
          "startIntronDirection": "+",
          "startIntronOffset": 9706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001391",
      "geneNCBI_id": 776,
      "geneSymbol": "CACNA1D",
      "hgvs": [
        "ENST00000288139.11:c.483+9707G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000288139.3:n.483+9707G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743937",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000288139.11:c.483+9707G="
          },
          "RefSeq": {
            "hgvs": "NM_000720.4:c.483+9707G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000288139.3:n.483+9707G="
          },
          "RefSeq": {
            "hgvs": "NP_000711.1:n.483+9707G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1039,
          "endIntronDirection": "+",
          "endIntronOffset": 9707,
          "referenceAllele": "G",
          "start": 1039,
          "startIntronDirection": "+",
          "startIntronOffset": 9706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001391",
      "geneNCBI_id": 776,
      "geneSymbol": "CACNA1D",
      "hgvs": [
        "ENST00000350061.11:c.483+9707G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000288133.5:n.483+9707G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748429",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000350061.11:c.483+9707G="
          },
          "RefSeq": {
            "hgvs": "NM_001128840.3:c.483+9707G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000288133.5:n.483+9707G="
          },
          "RefSeq": {
            "hgvs": "NP_001122312.1:n.483+9707G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 483,
          "endIntronDirection": "+",
          "endIntronOffset": 9707,
          "referenceAllele": "G",
          "start": 483,
          "startIntronDirection": "+",
          "startIntronOffset": 9706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001391",
      "geneNCBI_id": 776,
      "geneSymbol": "CACNA1D",
      "hgvs": [
        "ENST00000422281.7:c.483+9707G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000409174.2:n.483+9707G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754918"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 491,
          "endIntronDirection": "+",
          "endIntronOffset": 9707,
          "referenceAllele": "G",
          "start": 491,
          "startIntronDirection": "+",
          "startIntronOffset": 9706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001391",
      "geneNCBI_id": 776,
      "geneSymbol": "CACNA1D",
      "hgvs": [
        "ENST00000636480.1:n.491+9707G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763146"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 483,
          "endIntronDirection": "+",
          "endIntronOffset": 9707,
          "referenceAllele": "G",
          "start": 483,
          "startIntronDirection": "+",
          "startIntronOffset": 9706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001391",
      "geneNCBI_id": 776,
      "geneSymbol": "CACNA1D",
      "hgvs": [
        "ENST00000636570.1:c.483+9707G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490183.1:n.483+9707G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763215"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 976,
          "endIntronDirection": "+",
          "endIntronOffset": 9707,
          "referenceAllele": "G",
          "start": 976,
          "startIntronDirection": "+",
          "startIntronOffset": 9706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001391",
      "geneNCBI_id": 776,
      "geneSymbol": "CACNA1D",
      "hgvs": [
        "ENST00000636938.1:c.483+9707G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490039.1:n.483+9707G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763491"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 898,
          "endIntronDirection": "+",
          "endIntronOffset": 9707,
          "referenceAllele": "G",
          "start": 898,
          "startIntronDirection": "+",
          "startIntronOffset": 9706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001391",
      "geneNCBI_id": 776,
      "geneSymbol": "CACNA1D",
      "hgvs": [
        "ENST00000637424.1:c.555+9707G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489769.1:n.555+9707G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763854"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 456,
          "endIntronDirection": "+",
          "endIntronOffset": 9707,
          "referenceAllele": "G",
          "start": 456,
          "startIntronDirection": "+",
          "startIntronOffset": 9706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001391",
      "geneNCBI_id": 776,
      "geneSymbol": "CACNA1D",
      "hgvs": [
        "ENST00000640483.1:c.456+9707G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491921.1:n.456+9707G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765516"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 601,
          "endIntronDirection": "+",
          "endIntronOffset": 9707,
          "referenceAllele": "G",
          "start": 601,
          "startIntronDirection": "+",
          "startIntronOffset": 9706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001391",
      "geneNCBI_id": 776,
      "geneSymbol": "CACNA1D",
      "hgvs": [
        "ENST00000288139.8:c.483+9707G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000288139.3:n.483+9707G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253497"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 994,
          "endIntronDirection": "+",
          "endIntronOffset": 9707,
          "referenceAllele": "G",
          "start": 994,
          "startIntronDirection": "+",
          "startIntronOffset": 9706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001391",
      "geneNCBI_id": 776,
      "geneSymbol": "CACNA1D",
      "hgvs": [
        "ENST00000350061.9:c.483+9707G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000288133.5:n.483+9707G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262659"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 483,
          "endIntronDirection": "+",
          "endIntronOffset": 9707,
          "referenceAllele": "G",
          "start": 483,
          "startIntronDirection": "+",
          "startIntronOffset": 9706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001391",
      "geneNCBI_id": 776,
      "geneSymbol": "CACNA1D",
      "hgvs": [
        "ENST00000422281.6:c.483+9707G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000409174.2:n.483+9707G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287197"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 601,
          "endIntronDirection": "+",
          "endIntronOffset": 9707,
          "referenceAllele": "G",
          "start": 601,
          "startIntronDirection": "+",
          "startIntronOffset": 9706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001391",
      "geneNCBI_id": 776,
      "geneSymbol": "CACNA1D",
      "hgvs": [
        "NM_000720.3:c.483+9707G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000711.1:n.483+9707G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006757"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 601,
          "endIntronDirection": "+",
          "endIntronOffset": 9707,
          "referenceAllele": "G",
          "start": 601,
          "startIntronDirection": "+",
          "startIntronOffset": 9706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001391",
      "geneNCBI_id": 776,
      "geneSymbol": "CACNA1D",
      "hgvs": [
        "NM_001128839.2:c.483+9707G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001122311.1:n.483+9707G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011820"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 601,
          "endIntronDirection": "+",
          "endIntronOffset": 9707,
          "referenceAllele": "G",
          "start": 601,
          "startIntronDirection": "+",
          "startIntronOffset": 9706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001391",
      "geneNCBI_id": 776,
      "geneSymbol": "CACNA1D",
      "hgvs": [
        "NM_001128840.2:c.483+9707G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001122312.1:n.483+9707G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011821"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 674,
          "endIntronDirection": "+",
          "endIntronOffset": 9707,
          "referenceAllele": "G",
          "start": 674,
          "startIntronDirection": "+",
          "startIntronOffset": 9706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001391",
      "geneNCBI_id": 776,
      "geneSymbol": "CACNA1D",
      "hgvs": [
        "XM_005265448.2:c.483+9707G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005265505.1:n.483+9707G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064631"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 628,
          "endIntronDirection": "+",
          "endIntronOffset": 9707,
          "referenceAllele": "G",
          "start": 628,
          "startIntronDirection": "+",
          "startIntronOffset": 9706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001391",
      "geneNCBI_id": 776,
      "geneSymbol": "CACNA1D",
      "hgvs": [
        "XM_011534094.1:c.594+9707G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011532396.1:n.594+9707G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101112"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 674,
          "endIntronDirection": "+",
          "endIntronOffset": 9707,
          "referenceAllele": "G",
          "start": 674,
          "startIntronDirection": "+",
          "startIntronOffset": 9706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001391",
      "geneNCBI_id": 776,
      "geneSymbol": "CACNA1D",
      "hgvs": [
        "XM_011534095.1:c.483+9707G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011532397.1:n.483+9707G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101113"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 628,
          "endIntronDirection": "+",
          "endIntronOffset": 9707,
          "referenceAllele": "G",
          "start": 628,
          "startIntronDirection": "+",
          "startIntronOffset": 9706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001391",
      "geneNCBI_id": 776,
      "geneSymbol": "CACNA1D",
      "hgvs": [
        "XM_011534096.1:c.594+9707G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011532398.1:n.594+9707G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101114"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1052,
          "endIntronDirection": "+",
          "endIntronOffset": 9923,
          "referenceAllele": "G",
          "start": 1052,
          "startIntronDirection": "+",
          "startIntronOffset": 9922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001391",
      "geneNCBI_id": 776,
      "geneSymbol": "CACNA1D",
      "hgvs": [
        "XM_011534097.1:c.57+9923G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011532399.1:n.57+9923G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101115"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2840,
          "endIntronDirection": "+",
          "endIntronOffset": 9923,
          "referenceAllele": "G",
          "start": 2840,
          "startIntronDirection": "+",
          "startIntronOffset": 9922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001391",
      "geneNCBI_id": 776,
      "geneSymbol": "CACNA1D",
      "hgvs": [
        "XM_011534098.1:c.57+9923G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011532400.1:n.57+9923G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101116"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 628,
          "endIntronDirection": "+",
          "endIntronOffset": 9707,
          "referenceAllele": "G",
          "start": 628,
          "startIntronDirection": "+",
          "startIntronOffset": 9706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001391",
      "geneNCBI_id": 776,
      "geneSymbol": "CACNA1D",
      "hgvs": [
        "XM_011534100.1:c.594+9707G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011532402.1:n.594+9707G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101118"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 483,
          "endIntronDirection": "+",
          "endIntronOffset": 9707,
          "referenceAllele": "G",
          "start": 483,
          "startIntronDirection": "+",
          "startIntronOffset": 9706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001391",
      "geneNCBI_id": 776,
      "geneSymbol": "CACNA1D",
      "hgvs": [
        "XM_005265448.3:c.483+9707G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005265505.1:n.483+9707G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536054"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 609,
          "endIntronDirection": "+",
          "endIntronOffset": 9707,
          "referenceAllele": "G",
          "start": 609,
          "startIntronDirection": "+",
          "startIntronOffset": 9706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001391",
      "geneNCBI_id": 776,
      "geneSymbol": "CACNA1D",
      "hgvs": [
        "XM_011534094.2:c.594+9707G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011532396.1:n.594+9707G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551510"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 609,
          "endIntronDirection": "+",
          "endIntronOffset": 9707,
          "referenceAllele": "G",
          "start": 609,
          "startIntronDirection": "+",
          "startIntronOffset": 9706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001391",
      "geneNCBI_id": 776,
      "geneSymbol": "CACNA1D",
      "hgvs": [
        "XM_011534096.2:c.594+9707G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011532398.1:n.594+9707G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551511"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1076,
          "endIntronDirection": "+",
          "endIntronOffset": 9923,
          "referenceAllele": "G",
          "start": 1076,
          "startIntronDirection": "+",
          "startIntronOffset": 9922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001391",
      "geneNCBI_id": 776,
      "geneSymbol": "CACNA1D",
      "hgvs": [
        "XM_011534097.2:c.57+9923G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011532399.1:n.57+9923G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551512"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 609,
          "endIntronDirection": "+",
          "endIntronOffset": 9707,
          "referenceAllele": "G",
          "start": 609,
          "startIntronDirection": "+",
          "startIntronOffset": 9706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001391",
      "geneNCBI_id": 776,
      "geneSymbol": "CACNA1D",
      "hgvs": [
        "XM_011534100.2:c.594+9707G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011532402.1:n.594+9707G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551514"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 609,
          "endIntronDirection": "+",
          "endIntronOffset": 9707,
          "referenceAllele": "G",
          "start": 609,
          "startIntronDirection": "+",
          "startIntronOffset": 9706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001391",
      "geneNCBI_id": 776,
      "geneSymbol": "CACNA1D",
      "hgvs": [
        "XM_017007137.1:c.594+9707G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016862626.1:n.594+9707G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561969"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 609,
          "endIntronDirection": "+",
          "endIntronOffset": 9707,
          "referenceAllele": "G",
          "start": 609,
          "startIntronDirection": "+",
          "startIntronOffset": 9706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001391",
      "geneNCBI_id": 776,
      "geneSymbol": "CACNA1D",
      "hgvs": [
        "XM_017007138.1:c.594+9707G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016862627.1:n.594+9707G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561970"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 609,
          "endIntronDirection": "+",
          "endIntronOffset": 9707,
          "referenceAllele": "G",
          "start": 609,
          "startIntronDirection": "+",
          "startIntronOffset": 9706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001391",
      "geneNCBI_id": 776,
      "geneSymbol": "CACNA1D",
      "hgvs": [
        "XM_017007139.1:c.594+9707G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016862628.1:n.594+9707G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561971"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 609,
          "endIntronDirection": "+",
          "endIntronOffset": 9707,
          "referenceAllele": "G",
          "start": 609,
          "startIntronDirection": "+",
          "startIntronOffset": 9706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001391",
      "geneNCBI_id": 776,
      "geneSymbol": "CACNA1D",
      "hgvs": [
        "XM_017007140.1:c.594+9707G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016862629.1:n.594+9707G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561972"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 609,
          "endIntronDirection": "+",
          "endIntronOffset": 9707,
          "referenceAllele": "G",
          "start": 609,
          "startIntronDirection": "+",
          "startIntronOffset": 9706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001391",
      "geneNCBI_id": 776,
      "geneSymbol": "CACNA1D",
      "hgvs": [
        "XM_017007141.1:c.594+9707G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016862630.1:n.594+9707G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561973"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 609,
          "endIntronDirection": "+",
          "endIntronOffset": 9707,
          "referenceAllele": "G",
          "start": 609,
          "startIntronDirection": "+",
          "startIntronOffset": 9706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001391",
      "geneNCBI_id": 776,
      "geneSymbol": "CACNA1D",
      "hgvs": [
        "XM_017007142.1:c.594+9707G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016862631.1:n.594+9707G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561974"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 609,
          "endIntronDirection": "+",
          "endIntronOffset": 9707,
          "referenceAllele": "G",
          "start": 609,
          "startIntronDirection": "+",
          "startIntronOffset": 9706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001391",
      "geneNCBI_id": 776,
      "geneSymbol": "CACNA1D",
      "hgvs": [
        "XM_017007143.1:c.594+9707G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016862632.1:n.594+9707G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561975"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 609,
          "endIntronDirection": "+",
          "endIntronOffset": 9707,
          "referenceAllele": "G",
          "start": 609,
          "startIntronDirection": "+",
          "startIntronOffset": 9706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001391",
      "geneNCBI_id": 776,
      "geneSymbol": "CACNA1D",
      "hgvs": [
        "XM_017007144.1:c.594+9707G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016862633.1:n.594+9707G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561976"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 609,
          "endIntronDirection": "+",
          "endIntronOffset": 9707,
          "referenceAllele": "G",
          "start": 609,
          "startIntronDirection": "+",
          "startIntronOffset": 9706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001391",
      "geneNCBI_id": 776,
      "geneSymbol": "CACNA1D",
      "hgvs": [
        "XM_017007145.1:c.594+9707G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016862634.1:n.594+9707G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561977"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1039,
          "endIntronDirection": "+",
          "endIntronOffset": 9707,
          "referenceAllele": "G",
          "start": 1039,
          "startIntronDirection": "+",
          "startIntronOffset": 9706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001391",
      "geneNCBI_id": 776,
      "geneSymbol": "CACNA1D",
      "hgvs": [
        "NM_001128840.3:c.483+9707G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001122312.1:n.483+9707G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663569",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000350061.11:c.483+9707G="
          },
          "RefSeq": {
            "hgvs": "NM_001128840.3:c.483+9707G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000288133.5:n.483+9707G="
          },
          "RefSeq": {
            "hgvs": "NP_001122312.1:n.483+9707G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1039,
          "endIntronDirection": "+",
          "endIntronOffset": 9707,
          "referenceAllele": "G",
          "start": 1039,
          "startIntronDirection": "+",
          "startIntronOffset": 9706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001391",
      "geneNCBI_id": 776,
      "geneSymbol": "CACNA1D",
      "hgvs": [
        "NM_000720.4:c.483+9707G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000711.1:n.483+9707G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674932",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000288139.11:c.483+9707G="
          },
          "RefSeq": {
            "hgvs": "NM_000720.4:c.483+9707G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000288139.3:n.483+9707G="
          },
          "RefSeq": {
            "hgvs": "NP_000711.1:n.483+9707G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1039,
          "endIntronDirection": "+",
          "endIntronOffset": 9707,
          "referenceAllele": "G",
          "start": 1039,
          "startIntronDirection": "+",
          "startIntronOffset": 9706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001391",
      "geneNCBI_id": 776,
      "geneSymbol": "CACNA1D",
      "hgvs": [
        "NM_001128839.3:c.483+9707G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001122311.1:n.483+9707G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677012"
    }
  ],
  "type": "nucleotide"
}