{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2323807480",
  "communityStandardTitle": [
    "NM_001127222.2(CACNA1A):c.4363G= (p.Val1455=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121908237",
        "rs": 121908237
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 13259589,
          "referenceAllele": "C",
          "start": 13259588
        }
      ],
      "hgvs": [
        "NC_000019.10:g.13259589C=",
        "CM000681.2:g.13259589C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 13370403,
          "referenceAllele": "C",
          "start": 13370402
        }
      ],
      "hgvs": [
        "NC_000019.9:g.13370403C=",
        "CM000681.1:g.13370403C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 13231403,
          "referenceAllele": "C",
          "start": 13231402
        }
      ],
      "hgvs": [
        "NC_000019.8:g.13231403C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 251872,
          "referenceAllele": "G",
          "start": 251871
        }
      ],
      "hgvs": [
        "NG_011569.1:g.251872G=",
        "LRG_7:g.251872G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001829"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4618,
          "referenceAllele": "G",
          "start": 4617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000360228.11:c.4363G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353362.5:p.Val1455="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749291",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360228.11:c.4363G="
          },
          "RefSeq": {
            "hgvs": "NM_001127222.2:c.4363G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353362.5:p.Val1455="
          },
          "RefSeq": {
            "hgvs": "NP_001120694.1:p.Val1455="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4400,
          "referenceAllele": "G",
          "start": 4399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000573710.7:c.4369G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460092.3:p.Val1457="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760716"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3117,
          "referenceAllele": "G",
          "start": 3116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000590205.2:n.3117G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS761191"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4366,
          "referenceAllele": "G",
          "start": 4365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000635727.1:c.4366G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490001.1:p.Val1456="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762598"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 352,
          "referenceAllele": "G",
          "start": 351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000635742.1:n.352G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762608"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4637,
          "referenceAllele": "G",
          "start": 4636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000635895.1:c.4366G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490323.1:p.Val1456="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762719"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 855,
          "referenceAllele": "G",
          "start": 854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000635917.1:n.855G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762734"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4366,
          "referenceAllele": "G",
          "start": 4365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000636012.1:c.4366G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490223.1:p.Val1456="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762807"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4414,
          "referenceAllele": "G",
          "start": 4413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000636389.1:c.4366G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489992.1:p.Val1456="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763077"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4366,
          "referenceAllele": "G",
          "start": 4365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000636549.1:c.4366G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490578.1:p.Val1456="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763201"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1051,
          "referenceAllele": "G",
          "start": 1050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000636816.1:n.1051G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763403"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 646,
          "referenceAllele": "G",
          "start": 645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000636984.1:n.646G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763521"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 829,
          "referenceAllele": "G",
          "start": 828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000637004.1:n.829G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763540"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4366,
          "referenceAllele": "G",
          "start": 4365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000637276.1:c.4366G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489777.1:p.Val1456="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763746"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 19,
          "referenceAllele": "G",
          "start": 18
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000637297.1:c.19G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489692.1:p.Val7="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763763"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4611,
          "referenceAllele": "G",
          "start": 4610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000637432.1:c.4375G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490617.1:p.Val1459="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763858"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 685,
          "referenceAllele": "G",
          "start": 684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000637692.1:n.685G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764041"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4460,
          "referenceAllele": "G",
          "start": 4459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000637736.1:c.4225G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489861.1:p.Val1409="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764074"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4622,
          "referenceAllele": "G",
          "start": 4621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000637769.1:c.4366G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489778.1:p.Val1456="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764094"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4400,
          "referenceAllele": "G",
          "start": 4399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000637927.1:c.4369G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489715.1:p.Val1457="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764214"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4621,
          "referenceAllele": "G",
          "start": 4620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000638009.2:c.4366G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489913.1:p.Val1456="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764272"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4611,
          "referenceAllele": "G",
          "start": 4610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000638029.1:c.4375G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489829.1:p.Val1459="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764286"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4561,
          "referenceAllele": "G",
          "start": 4560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000664864.1:c.4561G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499449.1:p.Val1521="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772875"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4363,
          "referenceAllele": "G",
          "start": 4362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000360228.9:c.4363G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353362.5:p.Val1455="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265055"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4645,
          "referenceAllele": "G",
          "start": 4644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000573710.6:c.4366G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460092.2:p.Val1456="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS383401"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 421,
          "referenceAllele": "G",
          "start": 420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000585802.5:c.421G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465598.1:p.Val141="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS388955"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4375,
          "referenceAllele": "G",
          "start": 4374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000614285.4:c.4375G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479983.1:p.Val1459="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402117"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825012704",
      "coordinates": [
        {
          "allele": "G",
          "end": 4611,
          "referenceAllele": "G",
          "start": 4610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_000068.3:c.4375G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000059.3:p.Val1459="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006132"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825592332",
      "coordinates": [
        {
          "allele": "G",
          "end": 4602,
          "referenceAllele": "G",
          "start": 4601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_001127221.1:c.4366G=",
        "LRG_7t1:c.4366G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001120693.1:p.Val1456="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011554"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825597623",
      "coordinates": [
        {
          "allele": "G",
          "end": 4599,
          "referenceAllele": "G",
          "start": 4598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_001127222.1:c.4363G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001120694.1:p.Val1455="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011555"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826105591",
      "coordinates": [
        {
          "allele": "G",
          "end": 4602,
          "referenceAllele": "G",
          "start": 4601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_001174080.1:c.4366G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001167551.1:p.Val1456="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015653"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830012309",
      "coordinates": [
        {
          "allele": "G",
          "end": 4611,
          "referenceAllele": "G",
          "start": 4610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_023035.2:c.4375G="
      ],
      "proteinEffect": {
        "hgvs": "NP_075461.2:p.Val1459="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037547"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825012704",
      "coordinates": [
        {
          "allele": "G",
          "end": 4630,
          "referenceAllele": "G",
          "start": 4629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_000068.4:c.4375G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000059.3:p.Val1459="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674685"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825597623",
      "coordinates": [
        {
          "allele": "G",
          "end": 4618,
          "referenceAllele": "G",
          "start": 4617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_001127222.2:c.4363G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001120694.1:p.Val1455="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676856",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360228.11:c.4363G="
          },
          "RefSeq": {
            "hgvs": "NM_001127222.2:c.4363G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353362.5:p.Val1455="
          },
          "RefSeq": {
            "hgvs": "NP_001120694.1:p.Val1455="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826105591",
      "coordinates": [
        {
          "allele": "G",
          "end": 4621,
          "referenceAllele": "G",
          "start": 4620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_001174080.2:c.4366G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001167551.1:p.Val1456="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678846"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830012309",
      "coordinates": [
        {
          "allele": "G",
          "end": 4630,
          "referenceAllele": "G",
          "start": 4629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_023035.3:c.4375G="
      ],
      "proteinEffect": {
        "hgvs": "NP_075461.2:p.Val1459="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698619"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825592332",
      "coordinates": [
        {
          "allele": "G",
          "end": 4621,
          "referenceAllele": "G",
          "start": 4620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_001127221.2:c.4366G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001120693.1:p.Val1456="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712197"
    }
  ],
  "type": "nucleotide"
}