{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA349070188",
  "communityStandardTitle": [
    "NM_001165963.4(SCN1A):c.4924A>G (p.Arg1642Gly)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1697474[alleleid]",
        "alleleId": 1697474,
        "preferredName": "NM_001165963.4(SCN1A):c.4924A>G (p.Arg1642Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1704266",
        "RCV": [
          "RCV002281613"
        ],
        "variationId": 1704266
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.166848861T>C?assembly=hg19",
        "id": "chr2:g.166848861T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.165992351T>C?assembly=hg38",
        "id": "chr2:g.165992351T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2468340621",
        "rs": 2468340621
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 165992351,
          "referenceAllele": "T",
          "start": 165992350
        }
      ],
      "hgvs": [
        "NC_000002.12:g.165992351T>C",
        "CM000664.2:g.165992351T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 166848861,
          "referenceAllele": "T",
          "start": 166848860
        }
      ],
      "hgvs": [
        "NC_000002.11:g.166848861T>C",
        "CM000664.1:g.166848861T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 166557107,
          "referenceAllele": "T",
          "start": 166557106
        }
      ],
      "hgvs": [
        "NC_000002.10:g.166557107T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 86289,
          "referenceAllele": "A",
          "start": 86288
        }
      ],
      "hgvs": [
        "NG_011906.1:g.86289A>G",
        "LRG_8:g.86289A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002054"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5067,
          "referenceAllele": "A",
          "start": 5066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000689288.1:c.*2960A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509637.1:n.*2960A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832093"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5315,
          "referenceAllele": "A",
          "start": 5314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000303395.9:c.4924A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303540.4:p.Arg1642Gly",
        "hgvsWellDefined": "ENSP00000303540.4:p.Arg1642Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745029"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5108,
          "referenceAllele": "A",
          "start": 5107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000635750.1:c.4891A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490799.1:p.Arg1631Gly",
        "hgvsWellDefined": "ENSP00000490799.1:p.Arg1631Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762613"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6916,
          "referenceAllele": "A",
          "start": 6915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000635776.1:c.*1757A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490692.1:n.*1757A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762634"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5317,
          "referenceAllele": "A",
          "start": 5316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000636194.1:c.*2417A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490288.1:n.*2417A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762941"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1786,
          "referenceAllele": "A",
          "start": 1785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000637038.1:c.1786A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763565"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5371,
          "referenceAllele": "A",
          "start": 5370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000637988.1:c.4891A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490780.1:p.Arg1631Gly",
        "hgvsWellDefined": "ENSP00000490780.1:p.Arg1631Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764260"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4940,
          "referenceAllele": "A",
          "start": 4939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000640036.1:c.4891A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491573.1:p.Arg1631Gly",
        "hgvsWellDefined": "ENSP00000491573.1:p.Arg1631Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765301"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5164,
          "referenceAllele": "A",
          "start": 5163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000641575.1:c.4888A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492917.1:p.Arg1630Gly",
        "hgvsWellDefined": "ENSP00000492917.1:p.Arg1630Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766184"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4796,
          "referenceAllele": "A",
          "start": 4795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000641603.1:c.4642A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492945.1:p.Arg1548Gly",
        "hgvsWellDefined": "ENSP00000492945.1:p.Arg1548Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766204"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5193,
          "referenceAllele": "A",
          "start": 5192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000641996.1:c.*4478A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493054.1:n.*4478A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766485"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5143,
          "referenceAllele": "A",
          "start": 5142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000671940.1:c.*2867A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500336.1:n.*2867A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773217"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7397,
          "referenceAllele": "A",
          "start": 7396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000673490.1:n.7397A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773702"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5402,
          "referenceAllele": "A",
          "start": 5401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000674923.1:c.4924A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501589.1:p.Arg1642Gly",
        "hgvsWellDefined": "ENSP00000501589.1:p.Arg1642Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774809",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674923.1:c.4924A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001165963.4:c.4924A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501589.1:p.Arg1642Gly"
          },
          "RefSeq": {
            "hgvs": "NP_001159435.1:p.Arg1642Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5342,
          "referenceAllele": "A",
          "start": 5341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000303395.8:c.4924A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303540.4:p.Arg1642Gly",
        "hgvsWellDefined": "ENSP00000303540.4:p.Arg1642Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255312"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4909,
          "referenceAllele": "A",
          "start": 4908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000375405.7:c.4891A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364554.3:p.Arg1631Gly",
        "hgvsWellDefined": "ENSP00000364554.3:p.Arg1631Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270694"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4840,
          "referenceAllele": "A",
          "start": 4839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000409050.1:c.4840A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386312.1:p.Arg1614Gly",
        "hgvsWellDefined": "ENSP00000386312.1:p.Arg1614Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281214"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5000,
          "referenceAllele": "A",
          "start": 4999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000423058.6:c.4924A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407030.2:p.Arg1642Gly",
        "hgvsWellDefined": "ENSP00000407030.2:p.Arg1642Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287573"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826010721",
      "coordinates": [
        {
          "allele": "G",
          "end": 4942,
          "referenceAllele": "A",
          "start": 4941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.1:c.4924A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Arg1642Gly",
        "hgvsWellDefined": "NP_001159435.1:p.Arg1642Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014743"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826013684",
      "coordinates": [
        {
          "allele": "G",
          "end": 4858,
          "referenceAllele": "A",
          "start": 4857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165964.1:c.4840A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159436.1:p.Arg1614Gly",
        "hgvsWellDefined": "NP_001159436.1:p.Arg1614Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014744"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826260284",
      "coordinates": [
        {
          "allele": "G",
          "end": 5151,
          "referenceAllele": "A",
          "start": 5150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001202435.1:c.4924A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189364.1:p.Arg1642Gly",
        "hgvsWellDefined": "NP_001189364.1:p.Arg1642Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017403"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829676280",
      "coordinates": [
        {
          "allele": "G",
          "end": 4909,
          "referenceAllele": "A",
          "start": 4908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.4:c.4891A>G",
        "LRG_8t1:c.4891A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_008851.3:p.Arg1631Gly",
        "hgvsWellDefined": "NP_008851.3:p.Arg1631Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031895"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 175,
          "endIntronDirection": "-",
          "endIntronOffset": 23261,
          "referenceAllele": "T",
          "start": 175,
          "startIntronDirection": "-",
          "startIntronOffset": 23262
        }
      ],
      "hgvs": [
        "NR_110598.1:n.176-23262T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS054761"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5108,
          "referenceAllele": "A",
          "start": 5107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511598.1:c.4924A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509900.1:p.Arg1642Gly",
        "hgvsWellDefined": "XP_011509900.1:p.Arg1642Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078859"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5323,
          "referenceAllele": "A",
          "start": 5322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511599.1:c.4924A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509901.1:p.Arg1642Gly",
        "hgvsWellDefined": "XP_011509901.1:p.Arg1642Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078860"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5199,
          "referenceAllele": "A",
          "start": 5198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511600.1:c.4924A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509902.1:p.Arg1642Gly",
        "hgvsWellDefined": "XP_011509902.1:p.Arg1642Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078861"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5318,
          "referenceAllele": "A",
          "start": 5317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511601.1:c.4924A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509903.1:p.Arg1642Gly",
        "hgvsWellDefined": "XP_011509903.1:p.Arg1642Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078862"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5231,
          "referenceAllele": "A",
          "start": 5230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511602.1:c.4924A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509904.1:p.Arg1642Gly",
        "hgvsWellDefined": "XP_011509904.1:p.Arg1642Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078863"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5105,
          "referenceAllele": "A",
          "start": 5104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511603.1:c.4921A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509905.1:p.Arg1641Gly",
        "hgvsWellDefined": "XP_011509905.1:p.Arg1641Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078864"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5075,
          "referenceAllele": "A",
          "start": 5074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511604.1:c.4891A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509906.1:p.Arg1631Gly",
        "hgvsWellDefined": "XP_011509906.1:p.Arg1631Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078865"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5072,
          "referenceAllele": "A",
          "start": 5071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511605.1:c.4888A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509907.1:p.Arg1630Gly",
        "hgvsWellDefined": "XP_011509907.1:p.Arg1630Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078866"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5024,
          "referenceAllele": "A",
          "start": 5023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511606.1:c.4840A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509908.1:p.Arg1614Gly",
        "hgvsWellDefined": "XP_011509908.1:p.Arg1614Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078867"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4826,
          "referenceAllele": "A",
          "start": 4825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511607.1:c.4642A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509909.1:p.Arg1548Gly",
        "hgvsWellDefined": "XP_011509909.1:p.Arg1548Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078868"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826010721",
      "coordinates": [
        {
          "allele": "G",
          "end": 5421,
          "referenceAllele": "A",
          "start": 5420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.2:c.4924A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Arg1642Gly",
        "hgvsWellDefined": "NP_001159435.1:p.Arg1642Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511667"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826013684",
      "coordinates": [
        {
          "allele": "G",
          "end": 5250,
          "referenceAllele": "A",
          "start": 5249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165964.2:c.4840A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159436.1:p.Arg1614Gly",
        "hgvsWellDefined": "NP_001159436.1:p.Arg1614Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511668"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826260284",
      "coordinates": [
        {
          "allele": "G",
          "end": 5235,
          "referenceAllele": "A",
          "start": 5234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001202435.2:c.4924A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189364.1:p.Arg1642Gly",
        "hgvsWellDefined": "NP_001189364.1:p.Arg1642Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511850"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827754360",
      "coordinates": [
        {
          "allele": "G",
          "end": 5242,
          "referenceAllele": "A",
          "start": 5241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353948.1:c.4924A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340877.1:p.Arg1642Gly",
        "hgvsWellDefined": "NP_001340877.1:p.Arg1642Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522051"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827760937",
      "coordinates": [
        {
          "allele": "G",
          "end": 5110,
          "referenceAllele": "A",
          "start": 5109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353949.1:c.4891A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340878.1:p.Arg1631Gly",
        "hgvsWellDefined": "NP_001340878.1:p.Arg1631Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522052"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827767504",
      "coordinates": [
        {
          "allele": "G",
          "end": 5202,
          "referenceAllele": "A",
          "start": 5201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353950.1:c.4891A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340879.1:p.Arg1631Gly",
        "hgvsWellDefined": "NP_001340879.1:p.Arg1631Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522053"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827771657",
      "coordinates": [
        {
          "allele": "G",
          "end": 5209,
          "referenceAllele": "A",
          "start": 5208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353951.1:c.4891A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340880.1:p.Arg1631Gly",
        "hgvsWellDefined": "NP_001340880.1:p.Arg1631Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522054"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827774646",
      "coordinates": [
        {
          "allele": "G",
          "end": 5301,
          "referenceAllele": "A",
          "start": 5300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353952.1:c.4891A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340881.1:p.Arg1631Gly",
        "hgvsWellDefined": "NP_001340881.1:p.Arg1631Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522055"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827777633",
      "coordinates": [
        {
          "allele": "G",
          "end": 5298,
          "referenceAllele": "A",
          "start": 5297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353954.1:c.4888A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340883.1:p.Arg1630Gly",
        "hgvsWellDefined": "NP_001340883.1:p.Arg1630Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522056"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827780619",
      "coordinates": [
        {
          "allele": "G",
          "end": 5206,
          "referenceAllele": "A",
          "start": 5205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353955.1:c.4888A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340884.1:p.Arg1630Gly",
        "hgvsWellDefined": "NP_001340884.1:p.Arg1630Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522057"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827783591",
      "coordinates": [
        {
          "allele": "G",
          "end": 5158,
          "referenceAllele": "A",
          "start": 5157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353957.1:c.4840A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340886.1:p.Arg1614Gly",
        "hgvsWellDefined": "NP_001340886.1:p.Arg1614Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522058"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827786552",
      "coordinates": [
        {
          "allele": "G",
          "end": 5151,
          "referenceAllele": "A",
          "start": 5150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353958.1:c.4840A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340887.1:p.Arg1614Gly",
        "hgvsWellDefined": "NP_001340887.1:p.Arg1614Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522059"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827789521",
      "coordinates": [
        {
          "allele": "G",
          "end": 5247,
          "referenceAllele": "A",
          "start": 5246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353960.1:c.4837A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340889.1:p.Arg1613Gly",
        "hgvsWellDefined": "NP_001340889.1:p.Arg1613Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522060"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580230151",
      "coordinates": [
        {
          "allele": "G",
          "end": 5317,
          "referenceAllele": "A",
          "start": 5316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353961.1:c.2482A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340890.1:p.Arg828Gly",
        "hgvsWellDefined": "NP_001340890.1:p.Arg828Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522061"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829676280",
      "coordinates": [
        {
          "allele": "G",
          "end": 5388,
          "referenceAllele": "A",
          "start": 5387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.5:c.4891A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_008851.3:p.Arg1631Gly",
        "hgvsWellDefined": "NP_008851.3:p.Arg1631Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525436"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5360,
          "referenceAllele": "A",
          "start": 5359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NR_148667.1:n.5360A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531272"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5374,
          "referenceAllele": "A",
          "start": 5373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XR_001738883.1:n.5374A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589320"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5346,
          "referenceAllele": "A",
          "start": 5345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XR_001738884.1:n.5346A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589321"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826010721",
      "coordinates": [
        {
          "allele": "G",
          "end": 5402,
          "referenceAllele": "A",
          "start": 5401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.3:c.4924A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Arg1642Gly",
        "hgvsWellDefined": "NP_001159435.1:p.Arg1642Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678433"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826013684",
      "coordinates": [
        {
          "allele": "G",
          "end": 5231,
          "referenceAllele": "A",
          "start": 5230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165964.3:c.4840A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159436.1:p.Arg1614Gly",
        "hgvsWellDefined": "NP_001159436.1:p.Arg1614Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678434"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826260284",
      "coordinates": [
        {
          "allele": "G",
          "end": 5180,
          "referenceAllele": "A",
          "start": 5179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001202435.3:c.4924A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189364.1:p.Arg1642Gly",
        "hgvsWellDefined": "NP_001189364.1:p.Arg1642Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679700"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827754360",
      "coordinates": [
        {
          "allele": "G",
          "end": 5223,
          "referenceAllele": "A",
          "start": 5222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353948.2:c.4924A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340877.1:p.Arg1642Gly",
        "hgvsWellDefined": "NP_001340877.1:p.Arg1642Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689996"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827760937",
      "coordinates": [
        {
          "allele": "G",
          "end": 5055,
          "referenceAllele": "A",
          "start": 5054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353949.2:c.4891A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340878.1:p.Arg1631Gly",
        "hgvsWellDefined": "NP_001340878.1:p.Arg1631Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827767504",
      "coordinates": [
        {
          "allele": "G",
          "end": 5147,
          "referenceAllele": "A",
          "start": 5146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353950.2:c.4891A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340879.1:p.Arg1631Gly",
        "hgvsWellDefined": "NP_001340879.1:p.Arg1631Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689998"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827771657",
      "coordinates": [
        {
          "allele": "G",
          "end": 5190,
          "referenceAllele": "A",
          "start": 5189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353951.2:c.4891A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340880.1:p.Arg1631Gly",
        "hgvsWellDefined": "NP_001340880.1:p.Arg1631Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689999"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827774646",
      "coordinates": [
        {
          "allele": "G",
          "end": 5282,
          "referenceAllele": "A",
          "start": 5281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353952.2:c.4891A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340881.1:p.Arg1631Gly",
        "hgvsWellDefined": "NP_001340881.1:p.Arg1631Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690000"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827777633",
      "coordinates": [
        {
          "allele": "G",
          "end": 5279,
          "referenceAllele": "A",
          "start": 5278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353954.2:c.4888A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340883.1:p.Arg1630Gly",
        "hgvsWellDefined": "NP_001340883.1:p.Arg1630Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690001"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827780619",
      "coordinates": [
        {
          "allele": "G",
          "end": 5187,
          "referenceAllele": "A",
          "start": 5186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353955.2:c.4888A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340884.1:p.Arg1630Gly",
        "hgvsWellDefined": "NP_001340884.1:p.Arg1630Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690002"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827783591",
      "coordinates": [
        {
          "allele": "G",
          "end": 5139,
          "referenceAllele": "A",
          "start": 5138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353957.2:c.4840A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340886.1:p.Arg1614Gly",
        "hgvsWellDefined": "NP_001340886.1:p.Arg1614Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690003"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827786552",
      "coordinates": [
        {
          "allele": "G",
          "end": 5096,
          "referenceAllele": "A",
          "start": 5095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353958.2:c.4840A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340887.1:p.Arg1614Gly",
        "hgvsWellDefined": "NP_001340887.1:p.Arg1614Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690004"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827789521",
      "coordinates": [
        {
          "allele": "G",
          "end": 5228,
          "referenceAllele": "A",
          "start": 5227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353960.2:c.4837A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340889.1:p.Arg1613Gly",
        "hgvsWellDefined": "NP_001340889.1:p.Arg1613Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690005"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580230151",
      "coordinates": [
        {
          "allele": "G",
          "end": 5298,
          "referenceAllele": "A",
          "start": 5297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353961.2:c.2482A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340890.1:p.Arg828Gly",
        "hgvsWellDefined": "NP_001340890.1:p.Arg828Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690006"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829676280",
      "coordinates": [
        {
          "allele": "G",
          "end": 5369,
          "referenceAllele": "A",
          "start": 5368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.6:c.4891A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_008851.3:p.Arg1631Gly",
        "hgvsWellDefined": "NP_008851.3:p.Arg1631Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696855"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5341,
          "referenceAllele": "A",
          "start": 5340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NR_148667.2:n.5341A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704821"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826010721",
      "coordinates": [
        {
          "allele": "G",
          "end": 5402,
          "referenceAllele": "A",
          "start": 5401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.4:c.4924A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Arg1642Gly",
        "hgvsWellDefined": "NP_001159435.1:p.Arg1642Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713154",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674923.1:c.4924A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001165963.4:c.4924A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501589.1:p.Arg1642Gly"
          },
          "RefSeq": {
            "hgvs": "NP_001159435.1:p.Arg1642Gly"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}