{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2323808978",
  "communityStandardTitle": [
    "NM_001127222.2(CACNA1A):c.4043G= (p.Arg1348=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057520918",
        "rs": 1057520918
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 13262780,
          "referenceAllele": "C",
          "start": 13262779
        }
      ],
      "hgvs": [
        "NC_000019.10:g.13262780C=",
        "CM000681.2:g.13262780C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 13373594,
          "referenceAllele": "C",
          "start": 13373593
        }
      ],
      "hgvs": [
        "NC_000019.9:g.13373594C=",
        "CM000681.1:g.13373594C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 13234594,
          "referenceAllele": "C",
          "start": 13234593
        }
      ],
      "hgvs": [
        "NC_000019.8:g.13234594C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 248681,
          "referenceAllele": "G",
          "start": 248680
        }
      ],
      "hgvs": [
        "NG_011569.1:g.248681G=",
        "LRG_7:g.248681G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001829"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4298,
          "referenceAllele": "G",
          "start": 4297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000360228.11:c.4043G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353362.5:p.Arg1348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749291",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360228.11:c.4043G="
          },
          "RefSeq": {
            "hgvs": "NM_001127222.2:c.4043G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353362.5:p.Arg1348="
          },
          "RefSeq": {
            "hgvs": "NP_001120694.1:p.Arg1348="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4080,
          "referenceAllele": "G",
          "start": 4079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000573710.7:c.4049G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460092.3:p.Arg1350="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760716"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4046,
          "referenceAllele": "G",
          "start": 4045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000635727.1:c.4046G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490001.1:p.Arg1349="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762598"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 32,
          "referenceAllele": "G",
          "start": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000635742.1:n.32G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762608"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4317,
          "referenceAllele": "G",
          "start": 4316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000635895.1:c.4046G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490323.1:p.Arg1349="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762719"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 535,
          "referenceAllele": "G",
          "start": 534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000635917.1:n.535G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762734"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4046,
          "referenceAllele": "G",
          "start": 4045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000636012.1:c.4046G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490223.1:p.Arg1349="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762807"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4094,
          "referenceAllele": "G",
          "start": 4093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000636389.1:c.4046G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489992.1:p.Arg1349="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763077"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4046,
          "referenceAllele": "G",
          "start": 4045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000636549.1:c.4046G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490578.1:p.Arg1349="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763201"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 731,
          "referenceAllele": "G",
          "start": 730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000636816.1:n.731G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763403"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 509,
          "referenceAllele": "G",
          "start": 508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000637004.1:n.509G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763540"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4046,
          "referenceAllele": "G",
          "start": 4045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000637276.1:c.4046G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489777.1:p.Arg1349="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763746"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4291,
          "referenceAllele": "G",
          "start": 4290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000637432.1:c.4055G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490617.1:p.Arg1352="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763858"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 365,
          "referenceAllele": "G",
          "start": 364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000637692.1:n.365G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764041"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4140,
          "referenceAllele": "G",
          "start": 4139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000637736.1:c.3905G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489861.1:p.Arg1302="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764074"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4302,
          "referenceAllele": "G",
          "start": 4301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000637769.1:c.4046G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489778.1:p.Arg1349="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764094"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4080,
          "referenceAllele": "G",
          "start": 4079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000637927.1:c.4049G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489715.1:p.Arg1350="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764214"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4301,
          "referenceAllele": "G",
          "start": 4300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000638009.2:c.4046G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489913.1:p.Arg1349="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764272"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4291,
          "referenceAllele": "G",
          "start": 4290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000638029.1:c.4055G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489829.1:p.Arg1352="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764286"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4241,
          "referenceAllele": "G",
          "start": 4240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000664864.1:c.4241G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499449.1:p.Arg1414="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772875"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4043,
          "referenceAllele": "G",
          "start": 4042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000360228.9:c.4043G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353362.5:p.Arg1348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265055"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4325,
          "referenceAllele": "G",
          "start": 4324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000573710.6:c.4046G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460092.2:p.Arg1349="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS383401"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 101,
          "referenceAllele": "G",
          "start": 100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000585802.5:c.101G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465598.1:p.Arg34="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS388955"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 122,
          "referenceAllele": "G",
          "start": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000590205.1:n.122G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS392028"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4055,
          "referenceAllele": "G",
          "start": 4054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000614285.4:c.4055G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479983.1:p.Arg1352="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402117"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3086616402",
      "coordinates": [
        {
          "allele": "G",
          "end": 4291,
          "referenceAllele": "G",
          "start": 4290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_000068.3:c.4055G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000059.3:p.Arg1352="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006132"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4282,
          "referenceAllele": "G",
          "start": 4281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_001127221.1:c.4046G=",
        "LRG_7t1:c.4046G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001120693.1:p.Arg1349="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011554"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4279,
          "referenceAllele": "G",
          "start": 4278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_001127222.1:c.4043G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001120694.1:p.Arg1348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011555"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4282,
          "referenceAllele": "G",
          "start": 4281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_001174080.1:c.4046G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001167551.1:p.Arg1349="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015653"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4291,
          "referenceAllele": "G",
          "start": 4290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_023035.2:c.4055G="
      ],
      "proteinEffect": {
        "hgvs": "NP_075461.2:p.Arg1352="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037547"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3086616402",
      "coordinates": [
        {
          "allele": "G",
          "end": 4310,
          "referenceAllele": "G",
          "start": 4309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_000068.4:c.4055G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000059.3:p.Arg1352="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674685"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4298,
          "referenceAllele": "G",
          "start": 4297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_001127222.2:c.4043G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001120694.1:p.Arg1348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676856",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360228.11:c.4043G="
          },
          "RefSeq": {
            "hgvs": "NM_001127222.2:c.4043G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353362.5:p.Arg1348="
          },
          "RefSeq": {
            "hgvs": "NP_001120694.1:p.Arg1348="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4301,
          "referenceAllele": "G",
          "start": 4300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_001174080.2:c.4046G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001167551.1:p.Arg1349="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678846"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4310,
          "referenceAllele": "G",
          "start": 4309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_023035.3:c.4055G="
      ],
      "proteinEffect": {
        "hgvs": "NP_075461.2:p.Arg1352="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698619"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4301,
          "referenceAllele": "G",
          "start": 4300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_001127221.2:c.4046G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001120693.1:p.Arg1349="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712197"
    }
  ],
  "type": "nucleotide"
}