{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2036166316",
  "communityStandardTitle": [
    "NM_001330260.2(SCN8A):c.1141C= (p.Arg381=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057519210",
        "rs": 1057519210
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 51705423,
          "referenceAllele": "C",
          "start": 51705422
        }
      ],
      "hgvs": [
        "NC_000012.12:g.51705423C=",
        "CM000674.2:g.51705423C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 52099207,
          "referenceAllele": "C",
          "start": 52099206
        }
      ],
      "hgvs": [
        "NC_000012.11:g.52099207C=",
        "CM000674.1:g.52099207C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 50385474,
          "referenceAllele": "C",
          "start": 50385473
        }
      ],
      "hgvs": [
        "NC_000012.10:g.50385474C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 119188,
          "referenceAllele": "C",
          "start": 119187
        }
      ],
      "hgvs": [
        "NG_021180.2:g.119188C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003459"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 120466,
          "referenceAllele": "C",
          "start": 120465
        }
      ],
      "hgvs": [
        "NG_021180.3:g.120466C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706127"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1322,
          "referenceAllele": "C",
          "start": 1321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "ENST00000354534.11:c.1141C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346534.4:p.Arg381="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748575",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000354534.11:c.1141C="
          },
          "RefSeq": {
            "hgvs": "NM_014191.4:c.1141C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000346534.4:p.Arg381="
          },
          "RefSeq": {
            "hgvs": "NP_055006.1:p.Arg381="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1322,
          "referenceAllele": "C",
          "start": 1321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "ENST00000627620.5:c.1141C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000487583.2:p.Arg381="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762495",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000627620.5:c.1141C="
          },
          "RefSeq": {
            "hgvs": "NM_001330260.2:c.1141C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000487583.2:p.Arg381="
          },
          "RefSeq": {
            "hgvs": "NP_001317189.1:p.Arg381="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1270,
          "referenceAllele": "C",
          "start": 1269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "ENST00000638820.1:c.1141C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492157.1:p.Arg381="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764719"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1289,
          "referenceAllele": "C",
          "start": 1288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "ENST00000662684.1:c.1141C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499636.1:p.Arg381="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772788"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1316,
          "referenceAllele": "C",
          "start": 1315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "ENST00000667214.1:c.1141C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499724.1:p.Arg381="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772973"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1322,
          "referenceAllele": "C",
          "start": 1321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "ENST00000668547.1:c.1141C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499691.1:p.Arg381="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773026"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1319,
          "referenceAllele": "C",
          "start": 1318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "ENST00000354534.10:c.1141C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346534.4:p.Arg381="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263154"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1141,
          "referenceAllele": "C",
          "start": 1140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "ENST00000355133.7:c.1141C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347255.4:p.Arg381="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263341"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1319,
          "referenceAllele": "C",
          "start": 1318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "ENST00000545061.5:c.1141C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440360.1:p.Arg381="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364908"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1269,
          "referenceAllele": "C",
          "start": 1268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "ENST00000550891.4:n.1269C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS368338"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 691,
          "referenceAllele": "C",
          "start": 690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "ENST00000551216.2:c.691C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447567.2:p.Arg231="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS368534"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1141,
          "referenceAllele": "C",
          "start": 1140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "ENST00000599343.5:c.1141C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000476447.3:p.Arg381="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS396793"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1141,
          "referenceAllele": "C",
          "start": 1140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "ENST00000627620.2:c.1141C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000487583.1:p.Arg381="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406922"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1319,
          "referenceAllele": "C",
          "start": 1318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "NM_001177984.2:c.1141C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001171455.1:p.Arg381="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015791"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3079807189",
      "coordinates": [
        {
          "allele": "C",
          "end": 1319,
          "referenceAllele": "C",
          "start": 1318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "NM_014191.3:c.1141C="
      ],
      "proteinEffect": {
        "hgvs": "NP_055006.1:p.Arg381="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032973"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1676,
          "referenceAllele": "C",
          "start": 1675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "XM_006719556.2:c.1141C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006719619.1:p.Arg381="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073200"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1232,
          "referenceAllele": "C",
          "start": 1231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "XM_011538650.1:c.1141C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536952.1:p.Arg381="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105605"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1214,
          "referenceAllele": "C",
          "start": 1213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "XM_011538651.1:c.1141C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536953.1:p.Arg381="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105606"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1319,
          "referenceAllele": "C",
          "start": 1318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "NM_001330260.1:c.1141C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001317189.1:p.Arg381="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516658"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1911,
          "referenceAllele": "C",
          "start": 1910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "XM_006719556.4:c.1141C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006719619.1:p.Arg381="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539893"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1303,
          "referenceAllele": "C",
          "start": 1302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "XM_011538651.3:c.1141C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536953.1:p.Arg381="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553348"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1316,
          "referenceAllele": "C",
          "start": 1315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "XM_017019794.2:c.1141C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016875283.1:p.Arg381="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571386"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1335,
          "referenceAllele": "C",
          "start": 1334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "XM_017019795.2:c.1141C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016875284.1:p.Arg381="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571387"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1335,
          "referenceAllele": "C",
          "start": 1334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "XM_017019796.1:c.1141C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016875285.1:p.Arg381="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571388"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1322,
          "referenceAllele": "C",
          "start": 1321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "NM_001330260.2:c.1141C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001317189.1:p.Arg381="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686837",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000627620.5:c.1141C="
          },
          "RefSeq": {
            "hgvs": "NM_001330260.2:c.1141C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000487583.2:p.Arg381="
          },
          "RefSeq": {
            "hgvs": "NP_001317189.1:p.Arg381="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1322,
          "referenceAllele": "C",
          "start": 1321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "NM_001369788.1:c.1141C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001356717.1:p.Arg381="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691972"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3079807189",
      "coordinates": [
        {
          "allele": "C",
          "end": 1322,
          "referenceAllele": "C",
          "start": 1321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "NM_014191.4:c.1141C="
      ],
      "proteinEffect": {
        "hgvs": "NP_055006.1:p.Arg381="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697198",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000354534.11:c.1141C="
          },
          "RefSeq": {
            "hgvs": "NM_014191.4:c.1141C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000346534.4:p.Arg381="
          },
          "RefSeq": {
            "hgvs": "NP_055006.1:p.Arg381="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1322,
          "referenceAllele": "C",
          "start": 1321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "NM_001177984.3:c.1141C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001171455.1:p.Arg381="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713539"
    }
  ],
  "type": "nucleotide"
}