{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA9240797",
  "communityStandardTitle": [
    "NM_001127222.2(CACNA1A):c.1518T>C (p.Val506=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=256788[alleleid]",
        "alleleId": 256788,
        "preferredName": "NM_001127222.2(CACNA1A):c.1518T>C (p.Val506=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/257508",
        "RCV": [
          "RCV000247429",
          "RCV000653367",
          "RCV001083550",
          "RCV002317782",
          "RCV002503933"
        ],
        "variationId": 257508
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/19-13427963-A-G",
        "id": "19-13427963-A-G",
        "variant": "19:13427963 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.13427963A>G?assembly=hg19",
        "id": "chr19:g.13427963A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.13317149A>G?assembly=hg38",
        "id": "chr19:g.13317149A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/16009",
        "rs": 16009
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-13427963-A-G?dataset=gnomad_r2_1",
        "id": "19-13427963-A-G",
        "variant": "19:13427963 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-13317149-A-G?dataset=gnomad_r3",
        "id": "19-13317149-A-G",
        "variant": "19:13317149 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-13317149-A-G?dataset=gnomad_r4",
        "id": "19-13317149-A-G",
        "variant": "19:13317149 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 13317149,
          "referenceAllele": "A",
          "start": 13317148
        }
      ],
      "hgvs": [
        "NC_000019.10:g.13317149A>G",
        "CM000681.2:g.13317149A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 13427963,
          "referenceAllele": "A",
          "start": 13427962
        }
      ],
      "hgvs": [
        "NC_000019.9:g.13427963A>G",
        "CM000681.1:g.13427963A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 13288963,
          "referenceAllele": "A",
          "start": 13288962
        }
      ],
      "hgvs": [
        "NC_000019.8:g.13288963A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 194312,
          "referenceAllele": "T",
          "start": 194311
        }
      ],
      "hgvs": [
        "NG_011569.1:g.194312T>C",
        "LRG_7:g.194312T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001829"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1773,
          "referenceAllele": "T",
          "start": 1772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000360228.11:c.1518T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353362.5:p.Val506="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749291",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360228.11:c.1518T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001127222.2:c.1518T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353362.5:p.Val506="
          },
          "RefSeq": {
            "hgvs": "NP_001120694.1:p.Val506="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1555,
          "referenceAllele": "T",
          "start": 1554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000573710.7:c.1524T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460092.3:p.Val508="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760716"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1521,
          "referenceAllele": "T",
          "start": 1520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000635727.1:c.1521T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490001.1:p.Val507="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762598"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1792,
          "referenceAllele": "T",
          "start": 1791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000635895.1:c.1521T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490323.1:p.Val507="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762719"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1521,
          "referenceAllele": "T",
          "start": 1520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000636012.1:c.1521T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490223.1:p.Val507="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762807"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 385,
          "referenceAllele": "T",
          "start": 384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000636022.1:n.385T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762815"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1569,
          "referenceAllele": "T",
          "start": 1568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000636389.1:c.1521T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489992.1:p.Val507="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763077"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1521,
          "referenceAllele": "T",
          "start": 1520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000636549.1:c.1521T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490578.1:p.Val507="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763201"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 880,
          "referenceAllele": "T",
          "start": 879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000636974.1:n.880T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763517"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1521,
          "referenceAllele": "T",
          "start": 1520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000637276.1:c.1521T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489777.1:p.Val507="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763746"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1757,
          "referenceAllele": "T",
          "start": 1756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000637432.1:c.1521T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490617.1:p.Val507="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763858"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1615,
          "referenceAllele": "T",
          "start": 1614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000637736.1:c.1380T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489861.1:p.Val460="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764074"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1777,
          "referenceAllele": "T",
          "start": 1776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000637769.1:c.1521T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489778.1:p.Val507="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764094"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1555,
          "referenceAllele": "T",
          "start": 1554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000637927.1:c.1524T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489715.1:p.Val508="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764214"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1374,
          "referenceAllele": "T",
          "start": 1373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000637966.1:n.1374T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764245"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1776,
          "referenceAllele": "T",
          "start": 1775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000638009.2:c.1521T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489913.1:p.Val507="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764272"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1757,
          "referenceAllele": "T",
          "start": 1756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000638029.1:c.1521T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489829.1:p.Val507="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764286"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1716,
          "referenceAllele": "T",
          "start": 1715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000664864.1:c.1716T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499449.1:p.Val572="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772875"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1518,
          "referenceAllele": "T",
          "start": 1517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000360228.9:c.1518T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353362.5:p.Val506="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265055"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1800,
          "referenceAllele": "T",
          "start": 1799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000573710.6:c.1521T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460092.2:p.Val507="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS383401"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1521,
          "referenceAllele": "T",
          "start": 1520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000614285.4:c.1521T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479983.1:p.Val507="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402117"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825010360",
      "coordinates": [
        {
          "allele": "C",
          "end": 1757,
          "referenceAllele": "T",
          "start": 1756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_000068.3:c.1521T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000059.3:p.Val507="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006132"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825589841",
      "coordinates": [
        {
          "allele": "C",
          "end": 1757,
          "referenceAllele": "T",
          "start": 1756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_001127221.1:c.1521T>C",
        "LRG_7t1:c.1521T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120693.1:p.Val507="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011554"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825595583",
      "coordinates": [
        {
          "allele": "C",
          "end": 1754,
          "referenceAllele": "T",
          "start": 1753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_001127222.1:c.1518T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120694.1:p.Val506="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011555"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826103836",
      "coordinates": [
        {
          "allele": "C",
          "end": 1757,
          "referenceAllele": "T",
          "start": 1756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_001174080.1:c.1521T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001167551.1:p.Val507="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015653"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830010429",
      "coordinates": [
        {
          "allele": "C",
          "end": 1757,
          "referenceAllele": "T",
          "start": 1756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_023035.2:c.1521T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_075461.2:p.Val507="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037547"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825010360",
      "coordinates": [
        {
          "allele": "C",
          "end": 1776,
          "referenceAllele": "T",
          "start": 1775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_000068.4:c.1521T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000059.3:p.Val507="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674685"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825595583",
      "coordinates": [
        {
          "allele": "C",
          "end": 1773,
          "referenceAllele": "T",
          "start": 1772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_001127222.2:c.1518T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120694.1:p.Val506="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676856",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360228.11:c.1518T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001127222.2:c.1518T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353362.5:p.Val506="
          },
          "RefSeq": {
            "hgvs": "NP_001120694.1:p.Val506="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826103836",
      "coordinates": [
        {
          "allele": "C",
          "end": 1776,
          "referenceAllele": "T",
          "start": 1775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_001174080.2:c.1521T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001167551.1:p.Val507="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678846"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830010429",
      "coordinates": [
        {
          "allele": "C",
          "end": 1776,
          "referenceAllele": "T",
          "start": 1775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_023035.3:c.1521T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_075461.2:p.Val507="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698619"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825589841",
      "coordinates": [
        {
          "allele": "C",
          "end": 1776,
          "referenceAllele": "T",
          "start": 1775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_001127221.2:c.1521T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120693.1:p.Val507="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712197"
    }
  ],
  "type": "nucleotide"
}