{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2323857084",
  "communityStandardTitle": [
    "NM_001127222.2(CACNA1A):c.757C= (p.His253=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121908228",
        "rs": 121908228
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 13365344,
          "referenceAllele": "G",
          "start": 13365343
        }
      ],
      "hgvs": [
        "NC_000019.10:g.13365344G=",
        "CM000681.2:g.13365344G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 13476158,
          "referenceAllele": "G",
          "start": 13476157
        }
      ],
      "hgvs": [
        "NC_000019.9:g.13476158G=",
        "CM000681.1:g.13476158G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 13337158,
          "referenceAllele": "G",
          "start": 13337157
        }
      ],
      "hgvs": [
        "NC_000019.8:g.13337158G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 146117,
          "referenceAllele": "C",
          "start": 146116
        }
      ],
      "hgvs": [
        "NG_011569.1:g.146117C=",
        "LRG_7:g.146117C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001829"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1012,
          "referenceAllele": "C",
          "start": 1011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000360228.11:c.757C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353362.5:p.His253="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749291",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360228.11:c.757C="
          },
          "RefSeq": {
            "hgvs": "NM_001127222.2:c.757C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353362.5:p.His253="
          },
          "RefSeq": {
            "hgvs": "NP_001120694.1:p.His253="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 788,
          "referenceAllele": "C",
          "start": 787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000573710.7:c.757C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460092.3:p.His253="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760716"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 472,
          "referenceAllele": "C",
          "start": 471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000593160.2:n.472C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS761309"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 757,
          "referenceAllele": "C",
          "start": 756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000635727.1:c.757C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490001.1:p.His253="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762598"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1028,
          "referenceAllele": "C",
          "start": 1027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000635895.1:c.757C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490323.1:p.His253="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762719"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 757,
          "referenceAllele": "C",
          "start": 756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000636012.1:c.757C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490223.1:p.His253="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762807"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 805,
          "referenceAllele": "C",
          "start": 804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000636389.1:c.757C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489992.1:p.His253="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763077"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 757,
          "referenceAllele": "C",
          "start": 756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000636549.1:c.757C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490578.1:p.His253="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763201"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 645,
          "referenceAllele": "C",
          "start": 644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000636966.1:n.645C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763512"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 116,
          "referenceAllele": "C",
          "start": 115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000636974.1:n.116C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763517"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 757,
          "referenceAllele": "C",
          "start": 756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000637276.1:c.757C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489777.1:p.His253="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763746"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 993,
          "referenceAllele": "C",
          "start": 992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000637432.1:c.757C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490617.1:p.His253="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763858"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 851,
          "referenceAllele": "C",
          "start": 850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000637736.1:c.616C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489861.1:p.His206="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764074"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1013,
          "referenceAllele": "C",
          "start": 1012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000637769.1:c.757C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489778.1:p.His253="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764094"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 788,
          "referenceAllele": "C",
          "start": 787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000637927.1:c.757C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489715.1:p.His253="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764214"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 955,
          "referenceAllele": "C",
          "start": 954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000637952.1:n.955C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764234"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 610,
          "referenceAllele": "C",
          "start": 609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000637966.1:n.610C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764245"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1012,
          "referenceAllele": "C",
          "start": 1011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000638009.2:c.757C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489913.1:p.His253="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764272"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 993,
          "referenceAllele": "C",
          "start": 992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000638029.1:c.757C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489829.1:p.His253="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764286"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 952,
          "referenceAllele": "C",
          "start": 951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000664864.1:c.952C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499449.1:p.His318="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772875"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 757,
          "referenceAllele": "C",
          "start": 756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000360228.9:c.757C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353362.5:p.His253="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265055"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1036,
          "referenceAllele": "C",
          "start": 1035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000573710.6:c.757C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460092.2:p.His253="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS383401"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 757,
          "referenceAllele": "C",
          "start": 756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000614285.4:c.757C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479983.1:p.His253="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402117"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085875417",
      "coordinates": [
        {
          "allele": "C",
          "end": 993,
          "referenceAllele": "C",
          "start": 992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_000068.3:c.757C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000059.3:p.His253="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006132"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 993,
          "referenceAllele": "C",
          "start": 992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_001127221.1:c.757C=",
        "LRG_7t1:c.757C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001120693.1:p.His253="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011554"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 993,
          "referenceAllele": "C",
          "start": 992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_001127222.1:c.757C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001120694.1:p.His253="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011555"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 993,
          "referenceAllele": "C",
          "start": 992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_001174080.1:c.757C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001167551.1:p.His253="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015653"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 993,
          "referenceAllele": "C",
          "start": 992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_023035.2:c.757C="
      ],
      "proteinEffect": {
        "hgvs": "NP_075461.2:p.His253="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037547"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085875417",
      "coordinates": [
        {
          "allele": "C",
          "end": 1012,
          "referenceAllele": "C",
          "start": 1011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_000068.4:c.757C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000059.3:p.His253="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674685"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1012,
          "referenceAllele": "C",
          "start": 1011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_001127222.2:c.757C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001120694.1:p.His253="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676856",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360228.11:c.757C="
          },
          "RefSeq": {
            "hgvs": "NM_001127222.2:c.757C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353362.5:p.His253="
          },
          "RefSeq": {
            "hgvs": "NP_001120694.1:p.His253="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1012,
          "referenceAllele": "C",
          "start": 1011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_001174080.2:c.757C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001167551.1:p.His253="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678846"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1012,
          "referenceAllele": "C",
          "start": 1011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_023035.3:c.757C="
      ],
      "proteinEffect": {
        "hgvs": "NP_075461.2:p.His253="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698619"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1012,
          "referenceAllele": "C",
          "start": 1011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_001127221.2:c.757C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001120693.1:p.His253="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712197"
    }
  ],
  "type": "nucleotide"
}