{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA404336907",
  "communityStandardTitle": [
    "NM_001127222.2(CACNA1A):c.4996C>G (p.Arg1666Gly)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.13346499G>C?assembly=hg19",
        "id": "chr19:g.13346499G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.13235685G>C?assembly=hg38",
        "id": "chr19:g.13235685G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121908220",
        "rs": 121908220
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 13235685,
          "referenceAllele": "G",
          "start": 13235684
        }
      ],
      "hgvs": [
        "NC_000019.10:g.13235685G>C",
        "CM000681.2:g.13235685G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 13346499,
          "referenceAllele": "G",
          "start": 13346498
        }
      ],
      "hgvs": [
        "NC_000019.9:g.13346499G>C",
        "CM000681.1:g.13346499G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 13207499,
          "referenceAllele": "G",
          "start": 13207498
        }
      ],
      "hgvs": [
        "NC_000019.8:g.13207499G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 275776,
          "referenceAllele": "C",
          "start": 275775
        }
      ],
      "hgvs": [
        "NG_011569.1:g.275776C>G",
        "LRG_7:g.275776C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001829"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5251,
          "referenceAllele": "C",
          "start": 5250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000360228.11:c.4996C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353362.5:p.Arg1666Gly",
        "hgvsWellDefined": "ENSP00000353362.5:p.Arg1666Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749291",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360228.11:c.4996C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001127222.2:c.4996C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353362.5:p.Arg1666Gly"
          },
          "RefSeq": {
            "hgvs": "NP_001120694.1:p.Arg1666Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5033,
          "referenceAllele": "C",
          "start": 5032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000573710.7:c.5002C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460092.3:p.Arg1668Gly",
        "hgvsWellDefined": "ENSP00000460092.3:p.Arg1668Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760716"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 415,
          "referenceAllele": "C",
          "start": 414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000573891.6:c.415C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760720"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 220,
          "referenceAllele": "C",
          "start": 219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000574822.6:n.220C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760750"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 157,
          "referenceAllele": "C",
          "start": 156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000585802.6:c.157C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465598.2:p.Arg53Gly",
        "hgvsWellDefined": "ENSP00000465598.2:p.Arg53Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 201,
          "referenceAllele": "C",
          "start": 200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000593267.2:n.201C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS761314"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4999,
          "referenceAllele": "C",
          "start": 4998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000635727.1:c.4999C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490001.1:p.Arg1667Gly",
        "hgvsWellDefined": "ENSP00000490001.1:p.Arg1667Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762598"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 985,
          "referenceAllele": "C",
          "start": 984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000635742.1:n.985C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762608"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5270,
          "referenceAllele": "C",
          "start": 5269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000635895.1:c.4999C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490323.1:p.Arg1667Gly",
        "hgvsWellDefined": "ENSP00000490323.1:p.Arg1667Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762719"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4999,
          "referenceAllele": "C",
          "start": 4998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000636012.1:c.4999C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490223.1:p.Arg1667Gly",
        "hgvsWellDefined": "ENSP00000490223.1:p.Arg1667Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762807"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 311,
          "referenceAllele": "C",
          "start": 310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000636058.1:c.311C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762843"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5047,
          "referenceAllele": "C",
          "start": 5046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000636389.1:c.4999C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489992.1:p.Arg1667Gly",
        "hgvsWellDefined": "ENSP00000489992.1:p.Arg1667Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763077"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 157,
          "referenceAllele": "C",
          "start": 156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000636473.1:c.157C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490173.1:p.Arg53Gly",
        "hgvsWellDefined": "ENSP00000490173.1:p.Arg53Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763139"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5005,
          "referenceAllele": "C",
          "start": 5004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000636549.1:c.5005C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490578.1:p.Arg1669Gly",
        "hgvsWellDefined": "ENSP00000490578.1:p.Arg1669Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763201"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4999,
          "referenceAllele": "C",
          "start": 4998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000637276.1:c.4999C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489777.1:p.Arg1667Gly",
        "hgvsWellDefined": "ENSP00000489777.1:p.Arg1667Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763746"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 292,
          "referenceAllele": "C",
          "start": 291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000637297.1:c.292C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489692.1:p.Arg98Gly",
        "hgvsWellDefined": "ENSP00000489692.1:p.Arg98Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763763"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5250,
          "referenceAllele": "C",
          "start": 5249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000637432.1:c.5014C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490617.1:p.Arg1672Gly",
        "hgvsWellDefined": "ENSP00000490617.1:p.Arg1672Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763858"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5093,
          "referenceAllele": "C",
          "start": 5092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000637736.1:c.4858C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489861.1:p.Arg1620Gly",
        "hgvsWellDefined": "ENSP00000489861.1:p.Arg1620Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764074"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5255,
          "referenceAllele": "C",
          "start": 5254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000637769.1:c.4999C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489778.1:p.Arg1667Gly",
        "hgvsWellDefined": "ENSP00000489778.1:p.Arg1667Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764094"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 256,
          "referenceAllele": "C",
          "start": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000637777.1:c.256C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764100"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 389,
          "referenceAllele": "C",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000637809.1:n.389C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764125"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 400,
          "referenceAllele": "C",
          "start": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000637819.1:c.400C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490686.1:p.Arg134Gly",
        "hgvsWellDefined": "ENSP00000490686.1:p.Arg134Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764132"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5033,
          "referenceAllele": "C",
          "start": 5032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000637927.1:c.5002C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489715.1:p.Arg1668Gly",
        "hgvsWellDefined": "ENSP00000489715.1:p.Arg1668Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764214"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5254,
          "referenceAllele": "C",
          "start": 5253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000638009.2:c.4999C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489913.1:p.Arg1667Gly",
        "hgvsWellDefined": "ENSP00000489913.1:p.Arg1667Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764272"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5250,
          "referenceAllele": "C",
          "start": 5249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000638029.1:c.5014C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489829.1:p.Arg1672Gly",
        "hgvsWellDefined": "ENSP00000489829.1:p.Arg1672Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764286"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5200,
          "referenceAllele": "C",
          "start": 5199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000664864.1:c.5200C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499449.1:p.Arg1734Gly",
        "hgvsWellDefined": "ENSP00000499449.1:p.Arg1734Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772875"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4996,
          "referenceAllele": "C",
          "start": 4995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000360228.9:c.4996C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353362.5:p.Arg1666Gly",
        "hgvsWellDefined": "ENSP00000353362.5:p.Arg1666Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265055"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5278,
          "referenceAllele": "C",
          "start": 5277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000573710.6:c.4999C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460092.2:p.Arg1667Gly",
        "hgvsWellDefined": "ENSP00000460092.2:p.Arg1667Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS383401"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 415,
          "referenceAllele": "C",
          "start": 414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000573891.5:c.415C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS383470"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 220,
          "referenceAllele": "C",
          "start": 219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000574822.5:n.220C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS383847"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1054,
          "referenceAllele": "C",
          "start": 1053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000585802.5:c.1054C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465598.1:p.Arg352Gly",
        "hgvsWellDefined": "ENSP00000465598.1:p.Arg352Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS388955"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 457,
          "referenceAllele": "C",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000587525.5:c.457C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467729.1:p.Arg153Gly",
        "hgvsWellDefined": "ENSP00000467729.1:p.Arg153Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390149"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 201,
          "referenceAllele": "C",
          "start": 200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000593267.1:n.201C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS394132"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5014,
          "referenceAllele": "C",
          "start": 5013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000614285.4:c.5014C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479983.1:p.Arg1672Gly",
        "hgvsWellDefined": "ENSP00000479983.1:p.Arg1672Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402117"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085875373",
      "coordinates": [
        {
          "allele": "G",
          "end": 5250,
          "referenceAllele": "C",
          "start": 5249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_000068.3:c.5014C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000059.3:p.Arg1672Gly",
        "hgvsWellDefined": "NP_000059.3:p.Arg1672Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006132"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5235,
          "referenceAllele": "C",
          "start": 5234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_001127221.1:c.4999C>G",
        "LRG_7t1:c.4999C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120693.1:p.Arg1667Gly",
        "hgvsWellDefined": "NP_001120693.1:p.Arg1667Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011554"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5232,
          "referenceAllele": "C",
          "start": 5231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_001127222.1:c.4996C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120694.1:p.Arg1666Gly",
        "hgvsWellDefined": "NP_001120694.1:p.Arg1666Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011555"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5241,
          "referenceAllele": "C",
          "start": 5240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_001174080.1:c.5005C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001167551.1:p.Arg1669Gly",
        "hgvsWellDefined": "NP_001167551.1:p.Arg1669Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015653"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5250,
          "referenceAllele": "C",
          "start": 5249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_023035.2:c.5014C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_075461.2:p.Arg1672Gly",
        "hgvsWellDefined": "NP_075461.2:p.Arg1672Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037547"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085875373",
      "coordinates": [
        {
          "allele": "G",
          "end": 5269,
          "referenceAllele": "C",
          "start": 5268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_000068.4:c.5014C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000059.3:p.Arg1672Gly",
        "hgvsWellDefined": "NP_000059.3:p.Arg1672Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674685"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5251,
          "referenceAllele": "C",
          "start": 5250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_001127222.2:c.4996C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120694.1:p.Arg1666Gly",
        "hgvsWellDefined": "NP_001120694.1:p.Arg1666Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676856",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360228.11:c.4996C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001127222.2:c.4996C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353362.5:p.Arg1666Gly"
          },
          "RefSeq": {
            "hgvs": "NP_001120694.1:p.Arg1666Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5260,
          "referenceAllele": "C",
          "start": 5259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_001174080.2:c.5005C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001167551.1:p.Arg1669Gly",
        "hgvsWellDefined": "NP_001167551.1:p.Arg1669Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678846"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5269,
          "referenceAllele": "C",
          "start": 5268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_023035.3:c.5014C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_075461.2:p.Arg1672Gly",
        "hgvsWellDefined": "NP_075461.2:p.Arg1672Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698619"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5254,
          "referenceAllele": "C",
          "start": 5253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_001127221.2:c.4999C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120693.1:p.Arg1667Gly",
        "hgvsWellDefined": "NP_001120693.1:p.Arg1667Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712197"
    }
  ],
  "type": "nucleotide"
}