{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA384880375",
  "communityStandardTitle": [
    "NM_001330260.2(SCN8A):c.4850G>T (p.Arg1617Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=964393[alleleid]",
        "alleleId": 964393,
        "preferredName": "NM_001330260.2(SCN8A):c.4850G>T (p.Arg1617Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/976197",
        "RCV": [
          "RCV001253419",
          "RCV001879868"
        ],
        "variationId": 976197
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.52200120G>T?assembly=hg19",
        "id": "chr12:g.52200120G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.51806336G>T?assembly=hg38",
        "id": "chr12:g.51806336G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587777721",
        "rs": 587777721
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 51806336,
          "referenceAllele": "G",
          "start": 51806335
        }
      ],
      "hgvs": [
        "NC_000012.12:g.51806336G>T",
        "CM000674.2:g.51806336G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 52200120,
          "referenceAllele": "G",
          "start": 52200119
        }
      ],
      "hgvs": [
        "NC_000012.11:g.52200120G>T",
        "CM000674.1:g.52200120G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 50486387,
          "referenceAllele": "G",
          "start": 50486386
        }
      ],
      "hgvs": [
        "NC_000012.10:g.50486387G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 220101,
          "referenceAllele": "G",
          "start": 220100
        }
      ],
      "hgvs": [
        "NG_021180.2:g.220101G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003459"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 221379,
          "referenceAllele": "G",
          "start": 221378
        }
      ],
      "hgvs": [
        "NG_021180.3:g.221379G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706127"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5031,
          "referenceAllele": "G",
          "start": 5030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "ENST00000354534.11:c.4850G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346534.4:p.Arg1617Leu",
        "hgvsWellDefined": "ENSP00000346534.4:p.Arg1617Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748575",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000354534.11:c.4850G>T"
          },
          "RefSeq": {
            "hgvs": "NM_014191.4:c.4850G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000346534.4:p.Arg1617Leu"
          },
          "RefSeq": {
            "hgvs": "NP_055006.1:p.Arg1617Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5031,
          "referenceAllele": "G",
          "start": 5030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "ENST00000627620.5:c.4850G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000487583.2:p.Arg1617Leu",
        "hgvsWellDefined": "ENSP00000487583.2:p.Arg1617Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762495",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000627620.5:c.4850G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001330260.2:c.4850G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000487583.2:p.Arg1617Leu"
          },
          "RefSeq": {
            "hgvs": "NP_001317189.1:p.Arg1617Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2914,
          "referenceAllele": "G",
          "start": 2913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "ENST00000636945.2:c.2914G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763496"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4998,
          "referenceAllele": "G",
          "start": 4997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "ENST00000662684.1:c.4850G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499636.1:p.Arg1617Leu",
        "hgvsWellDefined": "ENSP00000499636.1:p.Arg1617Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772788"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4908,
          "referenceAllele": "G",
          "start": 4907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "ENST00000668547.1:c.4727G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499691.1:p.Arg1576Leu",
        "hgvsWellDefined": "ENSP00000499691.1:p.Arg1576Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773026"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5028,
          "referenceAllele": "G",
          "start": 5027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "ENST00000354534.10:c.4850G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346534.4:p.Arg1617Leu",
        "hgvsWellDefined": "ENSP00000346534.4:p.Arg1617Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263154"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4727,
          "referenceAllele": "G",
          "start": 4726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "ENST00000355133.7:c.4727G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347255.4:p.Arg1576Leu",
        "hgvsWellDefined": "ENSP00000347255.4:p.Arg1576Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263341"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4905,
          "referenceAllele": "G",
          "start": 4904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "ENST00000545061.5:c.4727G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440360.1:p.Arg1576Leu",
        "hgvsWellDefined": "ENSP00000440360.1:p.Arg1576Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364908"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4883,
          "referenceAllele": "G",
          "start": 4882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "ENST00000599343.5:c.4883G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000476447.3:p.Arg1628Leu",
        "hgvsWellDefined": "ENSP00000476447.3:p.Arg1628Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS396793"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4850,
          "referenceAllele": "G",
          "start": 4849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "ENST00000627620.2:c.4850G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000487583.1:p.Arg1617Leu",
        "hgvsWellDefined": "ENSP00000487583.1:p.Arg1617Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406922"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826130560",
      "coordinates": [
        {
          "allele": "T",
          "end": 4905,
          "referenceAllele": "G",
          "start": 4904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "NM_001177984.2:c.4727G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171455.1:p.Arg1576Leu",
        "hgvsWellDefined": "NP_001171455.1:p.Arg1576Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015791"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139724231",
      "coordinates": [
        {
          "allele": "T",
          "end": 5028,
          "referenceAllele": "G",
          "start": 5027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "NM_014191.3:c.4850G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055006.1:p.Arg1617Leu",
        "hgvsWellDefined": "NP_055006.1:p.Arg1617Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032973"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5385,
          "referenceAllele": "G",
          "start": 5384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "XM_006719556.2:c.4850G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719619.1:p.Arg1617Leu",
        "hgvsWellDefined": "XP_006719619.1:p.Arg1617Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073200"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4941,
          "referenceAllele": "G",
          "start": 4940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "XM_011538650.1:c.4850G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536952.1:p.Arg1617Leu",
        "hgvsWellDefined": "XP_011536952.1:p.Arg1617Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105605"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4923,
          "referenceAllele": "G",
          "start": 4922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "XM_011538651.1:c.4850G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536953.1:p.Arg1617Leu",
        "hgvsWellDefined": "XP_011536953.1:p.Arg1617Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105606"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827292479",
      "coordinates": [
        {
          "allele": "T",
          "end": 5028,
          "referenceAllele": "G",
          "start": 5027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "NM_001330260.1:c.4850G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317189.1:p.Arg1617Leu",
        "hgvsWellDefined": "NP_001317189.1:p.Arg1617Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516658"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5620,
          "referenceAllele": "G",
          "start": 5619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "XM_006719556.4:c.4850G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719619.1:p.Arg1617Leu",
        "hgvsWellDefined": "XP_006719619.1:p.Arg1617Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539893"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5012,
          "referenceAllele": "G",
          "start": 5011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "XM_011538651.3:c.4850G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536953.1:p.Arg1617Leu",
        "hgvsWellDefined": "XP_011536953.1:p.Arg1617Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553348"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5025,
          "referenceAllele": "G",
          "start": 5024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "XM_017019794.2:c.4850G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875283.1:p.Arg1617Leu",
        "hgvsWellDefined": "XP_016875283.1:p.Arg1617Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571386"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4921,
          "referenceAllele": "G",
          "start": 4920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "XM_017019795.2:c.4727G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875284.1:p.Arg1576Leu",
        "hgvsWellDefined": "XP_016875284.1:p.Arg1576Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571387"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827292479",
      "coordinates": [
        {
          "allele": "T",
          "end": 5031,
          "referenceAllele": "G",
          "start": 5030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "NM_001330260.2:c.4850G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317189.1:p.Arg1617Leu",
        "hgvsWellDefined": "NP_001317189.1:p.Arg1617Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686837",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000627620.5:c.4850G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001330260.2:c.4850G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000487583.2:p.Arg1617Leu"
          },
          "RefSeq": {
            "hgvs": "NP_001317189.1:p.Arg1617Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828361354",
      "coordinates": [
        {
          "allele": "T",
          "end": 4908,
          "referenceAllele": "G",
          "start": 4907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "NM_001369788.1:c.4727G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356717.1:p.Arg1576Leu",
        "hgvsWellDefined": "NP_001356717.1:p.Arg1576Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691972"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139724231",
      "coordinates": [
        {
          "allele": "T",
          "end": 5031,
          "referenceAllele": "G",
          "start": 5030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "NM_014191.4:c.4850G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055006.1:p.Arg1617Leu",
        "hgvsWellDefined": "NP_055006.1:p.Arg1617Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697198",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000354534.11:c.4850G>T"
          },
          "RefSeq": {
            "hgvs": "NM_014191.4:c.4850G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000346534.4:p.Arg1617Leu"
          },
          "RefSeq": {
            "hgvs": "NP_055006.1:p.Arg1617Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826130560",
      "coordinates": [
        {
          "allele": "T",
          "end": 4908,
          "referenceAllele": "G",
          "start": 4907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "NM_001177984.3:c.4727G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171455.1:p.Arg1576Leu",
        "hgvsWellDefined": "NP_001171455.1:p.Arg1576Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713539"
    }
  ],
  "type": "nucleotide"
}