{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA9239598",
  "communityStandardTitle": [
    "NM_001127222.2(CACNA1A):c.5732-6T>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=269763[alleleid]",
        "alleleId": 269763,
        "preferredName": "NM_001127222.2(CACNA1A):c.5732-6T>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/285526",
        "RCV": [
          "RCV000301024",
          "RCV000653357",
          "RCV003985315"
        ],
        "variationId": 285526
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/19-13325428-A-G",
        "id": "19-13325428-A-G",
        "variant": "19:13325428 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.13325428A>G?assembly=hg19",
        "id": "chr19:g.13325428A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.13214614A>G?assembly=hg38",
        "id": "chr19:g.13214614A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/16043",
        "rs": 16043
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-13325428-A-G?dataset=gnomad_r2_1",
        "id": "19-13325428-A-G",
        "variant": "19:13325428 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-13214614-A-G?dataset=gnomad_r3",
        "id": "19-13214614-A-G",
        "variant": "19:13214614 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-13214614-A-G?dataset=gnomad_r4",
        "id": "19-13214614-A-G",
        "variant": "19:13214614 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 13214614,
          "referenceAllele": "A",
          "start": 13214613
        }
      ],
      "hgvs": [
        "NC_000019.10:g.13214614A>G",
        "CM000681.2:g.13214614A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 13325428,
          "referenceAllele": "A",
          "start": 13325427
        }
      ],
      "hgvs": [
        "NC_000019.9:g.13325428A>G",
        "CM000681.1:g.13325428A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 13186428,
          "referenceAllele": "A",
          "start": 13186427
        }
      ],
      "hgvs": [
        "NC_000019.8:g.13186428A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 296847,
          "referenceAllele": "T",
          "start": 296846
        }
      ],
      "hgvs": [
        "NG_011569.1:g.296847T>C",
        "LRG_7:g.296847T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001829"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5986,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 5986,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000360228.11:c.5732-6T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353362.5:n.5732-6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749291",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360228.11:c.5732-6T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001127222.2:c.5732-6T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353362.5:n.5732-6T>C"
          },
          "RefSeq": {
            "hgvs": "NP_001120694.1:n.5732-6T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5768,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 5768,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000573710.7:c.5738-6T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460092.3:n.5738-6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760716"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 892,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 892,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000585802.6:c.893-6T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465598.2:n.893-6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761009"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5734,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 5734,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000635727.1:c.5735-6T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490001.1:n.5735-6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762598"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6005,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 6005,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000635895.1:c.5735-6T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490323.1:n.5735-6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762719"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1889,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 1889,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000635988.1:n.1890-6T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762787"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5734,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 5734,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000636012.1:c.5735-6T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490223.1:n.5735-6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762807"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 621,
          "referenceAllele": "T",
          "start": 620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000636074.1:n.621T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762853"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5782,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 5782,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000636389.1:c.5735-6T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489992.1:n.5735-6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763077"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 601,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 601,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000636473.1:c.602-6T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490173.1:n.602-6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763139"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5740,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 5740,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000636549.1:c.5741-6T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490578.1:n.5741-6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763201"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 648,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 648,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000636610.1:n.649-6T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763248"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 261,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 261,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000636768.1:c.262-6T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490190.1:n.262-6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763365"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5734,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 5734,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000637276.1:c.5735-6T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489777.1:n.5735-6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763746"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5985,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 5985,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000637432.1:c.5750-6T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490617.1:n.5750-6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763858"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5828,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 5828,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000637736.1:c.5594-6T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489861.1:n.5594-6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764074"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5990,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 5990,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000637769.1:c.5735-6T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489778.1:n.5735-6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764094"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1135,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 1135,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000637819.1:c.1136-6T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490686.1:n.1136-6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764132"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5768,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 5768,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000637927.1:c.5738-6T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489715.1:n.5738-6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764214"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5989,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 5989,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000638009.2:c.5735-6T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489913.1:n.5735-6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764272"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5985,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 5985,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000638029.1:c.5750-6T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489829.1:n.5750-6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764286"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5935,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 5935,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000664864.1:c.5936-6T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499449.1:n.5936-6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772875"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5731,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 5731,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000360228.9:c.5732-6T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353362.5:n.5732-6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265055"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6013,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 6013,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000573710.6:c.5735-6T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460092.2:n.5735-6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS383401"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1789,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 1789,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000585802.5:c.1790-6T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465598.1:n.1790-6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS388955"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 290,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 290,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000586190.1:n.291-6T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS389230"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1192,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 1192,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000587525.5:c.1193-6T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467729.1:n.1193-6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390149"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5749,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 5749,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000614285.4:c.5750-6T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479983.1:n.5750-6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402117"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5985,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 5985,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_000068.3:c.5750-6T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000059.3:n.5750-6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006132"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5970,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 5970,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_001127221.1:c.5735-6T>C",
        "LRG_7t1:c.5735-6T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120693.1:n.5735-6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011554"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5967,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 5967,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_001127222.1:c.5732-6T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120694.1:n.5732-6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011555"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5976,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 5976,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_001174080.1:c.5741-6T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001167551.1:n.5741-6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015653"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5985,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 5985,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_023035.2:c.5750-6T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_075461.2:n.5750-6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037547"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6004,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 6004,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_000068.4:c.5750-6T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000059.3:n.5750-6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674685"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5986,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 5986,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_001127222.2:c.5732-6T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120694.1:n.5732-6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676856",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360228.11:c.5732-6T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001127222.2:c.5732-6T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353362.5:n.5732-6T>C"
          },
          "RefSeq": {
            "hgvs": "NP_001120694.1:n.5732-6T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5995,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 5995,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_001174080.2:c.5741-6T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001167551.1:n.5741-6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678846"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6004,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 6004,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_023035.3:c.5750-6T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_075461.2:n.5750-6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698619"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5989,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 5989,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_001127221.2:c.5735-6T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120693.1:n.5735-6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712197"
    }
  ],
  "type": "nucleotide"
}