{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1143538604",
  "communityStandardTitle": [
    "NM_000069.3(CACNA1S):c.2627T= (p.Val876=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/267606698",
        "rs": 267606698
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 201066917,
          "referenceAllele": "A",
          "start": 201066916
        }
      ],
      "hgvs": [
        "NC_000001.11:g.201066917A=",
        "CM000663.2:g.201066917A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 201036045,
          "referenceAllele": "A",
          "start": 201036044
        }
      ],
      "hgvs": [
        "NC_000001.10:g.201036045A=",
        "CM000663.1:g.201036045A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 199302668,
          "referenceAllele": "A",
          "start": 199302667
        }
      ],
      "hgvs": [
        "NC_000001.9:g.199302668A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 50650,
          "referenceAllele": "T",
          "start": 50649
        }
      ],
      "hgvs": [
        "NG_009816.1:g.50650T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001653"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 50650,
          "referenceAllele": "T",
          "start": 50649
        }
      ],
      "hgvs": [
        "NG_009816.2:g.50650T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673532"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2714,
          "referenceAllele": "T",
          "start": 2713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "ENST00000362061.4:c.2627T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355192.3:p.Val876="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749587",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000362061.4:c.2627T="
          },
          "RefSeq": {
            "hgvs": "NM_000069.3:c.2627T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355192.3:p.Val876="
          },
          "RefSeq": {
            "hgvs": "NP_000060.2:p.Val876="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2993,
          "referenceAllele": "T",
          "start": 2992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "ENST00000679417.1:c.*1790T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506706.1:n.*1790T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779048"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2740,
          "referenceAllele": "T",
          "start": 2739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "ENST00000680059.1:c.*145T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504944.1:n.*145T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779680"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2714,
          "referenceAllele": "T",
          "start": 2713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "ENST00000681078.1:c.2627T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506645.1:p.Val876="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780691"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2714,
          "referenceAllele": "T",
          "start": 2713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "ENST00000681190.1:c.2627T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506428.1:p.Val876="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780801"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2654,
          "referenceAllele": "T",
          "start": 2653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "ENST00000681874.1:c.2567T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505162.1:p.Val856="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781475"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2854,
          "referenceAllele": "T",
          "start": 2853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "ENST00000362061.3:c.2627T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355192.3:p.Val876="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247221"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2739,
          "referenceAllele": "T",
          "start": 2738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "ENST00000367338.7:c.2627T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356307.3:p.Val876="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247424"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825015715",
      "coordinates": [
        {
          "allele": "T",
          "end": 2854,
          "referenceAllele": "T",
          "start": 2853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "NM_000069.2:c.2627T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000060.2:p.Val876="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006133"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2720,
          "referenceAllele": "T",
          "start": 2719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "XM_005245478.2:c.2627T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005245535.1:p.Val876="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057238"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2741,
          "referenceAllele": "T",
          "start": 2740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "XM_005245478.3:c.2627T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005245535.1:p.Val876="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532434"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825015715",
      "coordinates": [
        {
          "allele": "T",
          "end": 2714,
          "referenceAllele": "T",
          "start": 2713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "NM_000069.3:c.2627T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000060.2:p.Val876="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662308",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000362061.4:c.2627T="
          },
          "RefSeq": {
            "hgvs": "NM_000069.3:c.2627T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355192.3:p.Val876="
          },
          "RefSeq": {
            "hgvs": "NP_000060.2:p.Val876="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}