{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA303491",
  "communityStandardTitle": [
    "NM_001165963.4(SCN1A):c.4055T>C (p.Leu1352Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=187752[alleleid]",
        "alleleId": 187752,
        "preferredName": "NM_001165963.4(SCN1A):c.4055T>C (p.Leu1352Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/189990",
        "RCV": [
          "RCV000180946",
          "RCV001219498",
          "RCV002272155"
        ],
        "variationId": 189990
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.166859211A>G?assembly=hg19",
        "id": "chr2:g.166859211A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.166002701A>G?assembly=hg38",
        "id": "chr2:g.166002701A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/794726821",
        "rs": 794726821
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 166002701,
          "referenceAllele": "A",
          "start": 166002700
        }
      ],
      "hgvs": [
        "NC_000002.12:g.166002701A>G",
        "CM000664.2:g.166002701A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 166859211,
          "referenceAllele": "A",
          "start": 166859210
        }
      ],
      "hgvs": [
        "NC_000002.11:g.166859211A>G",
        "CM000664.1:g.166859211A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 166567457,
          "referenceAllele": "A",
          "start": 166567456
        }
      ],
      "hgvs": [
        "NC_000002.10:g.166567457A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 75939,
          "referenceAllele": "T",
          "start": 75938
        }
      ],
      "hgvs": [
        "NG_011906.1:g.75939T>C",
        "LRG_8:g.75939T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002054"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4198,
          "referenceAllele": "T",
          "start": 4197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000689288.1:c.*2091T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509637.1:n.*2091T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832093"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4446,
          "referenceAllele": "T",
          "start": 4445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000303395.9:c.4055T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303540.4:p.Leu1352Pro",
        "hgvsWellDefined": "ENSP00000303540.4:p.Leu1352Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745029"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4239,
          "referenceAllele": "T",
          "start": 4238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000635750.1:c.4022T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490799.1:p.Leu1341Pro",
        "hgvsWellDefined": "ENSP00000490799.1:p.Leu1341Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762613"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4324,
          "referenceAllele": "T",
          "start": 4323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000635776.1:c.4022T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490692.1:p.Leu1341Pro",
        "hgvsWellDefined": "ENSP00000490692.1:p.Leu1341Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762634"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4448,
          "referenceAllele": "T",
          "start": 4447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000636194.1:c.*1548T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490288.1:n.*1548T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762941"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 917,
          "referenceAllele": "T",
          "start": 916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000637038.1:c.917T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763565"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4502,
          "referenceAllele": "T",
          "start": 4501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000637988.1:c.4022T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490780.1:p.Leu1341Pro",
        "hgvsWellDefined": "ENSP00000490780.1:p.Leu1341Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764260"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4071,
          "referenceAllele": "T",
          "start": 4070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000640036.1:c.4022T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491573.1:p.Leu1341Pro",
        "hgvsWellDefined": "ENSP00000491573.1:p.Leu1341Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765301"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4295,
          "referenceAllele": "T",
          "start": 4294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000641575.1:c.4019T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492917.1:p.Leu1340Pro",
        "hgvsWellDefined": "ENSP00000492917.1:p.Leu1340Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766184"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4156,
          "endIntronDirection": "-",
          "endIntronOffset": 2924,
          "referenceAllele": "T",
          "start": 4156,
          "startIntronDirection": "-",
          "startIntronOffset": 2925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000641603.1:c.4003-2925T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492945.1:n.4003-2925T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766204"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4324,
          "referenceAllele": "T",
          "start": 4323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000641996.1:c.*3609T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493054.1:n.*3609T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766485"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4274,
          "referenceAllele": "T",
          "start": 4273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000671940.1:c.*1998T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500336.1:n.*1998T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773217"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6528,
          "referenceAllele": "T",
          "start": 6527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000673490.1:n.6528T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773702"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4533,
          "referenceAllele": "T",
          "start": 4532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000674923.1:c.4055T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501589.1:p.Leu1352Pro",
        "hgvsWellDefined": "ENSP00000501589.1:p.Leu1352Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774809",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674923.1:c.4055T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001165963.4:c.4055T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501589.1:p.Leu1352Pro"
          },
          "RefSeq": {
            "hgvs": "NP_001159435.1:p.Leu1352Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4473,
          "referenceAllele": "T",
          "start": 4472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000303395.8:c.4055T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303540.4:p.Leu1352Pro",
        "hgvsWellDefined": "ENSP00000303540.4:p.Leu1352Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255312"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4040,
          "referenceAllele": "T",
          "start": 4039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000375405.7:c.4022T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364554.3:p.Leu1341Pro",
        "hgvsWellDefined": "ENSP00000364554.3:p.Leu1341Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270694"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3971,
          "referenceAllele": "T",
          "start": 3970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000409050.1:c.3971T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386312.1:p.Leu1324Pro",
        "hgvsWellDefined": "ENSP00000386312.1:p.Leu1324Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281214"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4131,
          "referenceAllele": "T",
          "start": 4130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000423058.6:c.4055T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407030.2:p.Leu1352Pro",
        "hgvsWellDefined": "ENSP00000407030.2:p.Leu1352Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287573"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 208,
          "referenceAllele": "T",
          "start": 207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000491429.1:n.208T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS329030"
    },
    {
      "@id": "http://reg.genome.network/allele/PA303494",
      "coordinates": [
        {
          "allele": "C",
          "end": 4073,
          "referenceAllele": "T",
          "start": 4072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.1:c.4055T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Leu1352Pro",
        "hgvsWellDefined": "NP_001159435.1:p.Leu1352Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014743"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826013191",
      "coordinates": [
        {
          "allele": "C",
          "end": 3989,
          "referenceAllele": "T",
          "start": 3988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165964.1:c.3971T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159436.1:p.Leu1324Pro",
        "hgvsWellDefined": "NP_001159436.1:p.Leu1324Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014744"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826259795",
      "coordinates": [
        {
          "allele": "C",
          "end": 4282,
          "referenceAllele": "T",
          "start": 4281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001202435.1:c.4055T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189364.1:p.Leu1352Pro",
        "hgvsWellDefined": "NP_001189364.1:p.Leu1352Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017403"
    },
    {
      "@id": "http://reg.genome.network/allele/PA303493",
      "coordinates": [
        {
          "allele": "C",
          "end": 4040,
          "referenceAllele": "T",
          "start": 4039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.4:c.4022T>C",
        "LRG_8t1:c.4022T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_008851.3:p.Leu1341Pro",
        "hgvsWellDefined": "NP_008851.3:p.Leu1341Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031895"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 175,
          "endIntronDirection": "-",
          "endIntronOffset": 12911,
          "referenceAllele": "A",
          "start": 175,
          "startIntronDirection": "-",
          "startIntronOffset": 12912
        }
      ],
      "hgvs": [
        "NR_110598.1:n.176-12912A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS054761"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4239,
          "referenceAllele": "T",
          "start": 4238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511598.1:c.4055T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509900.1:p.Leu1352Pro",
        "hgvsWellDefined": "XP_011509900.1:p.Leu1352Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078859"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4454,
          "referenceAllele": "T",
          "start": 4453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511599.1:c.4055T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509901.1:p.Leu1352Pro",
        "hgvsWellDefined": "XP_011509901.1:p.Leu1352Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078860"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4330,
          "referenceAllele": "T",
          "start": 4329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511600.1:c.4055T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509902.1:p.Leu1352Pro",
        "hgvsWellDefined": "XP_011509902.1:p.Leu1352Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078861"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4449,
          "referenceAllele": "T",
          "start": 4448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511601.1:c.4055T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509903.1:p.Leu1352Pro",
        "hgvsWellDefined": "XP_011509903.1:p.Leu1352Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078862"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4362,
          "referenceAllele": "T",
          "start": 4361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511602.1:c.4055T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509904.1:p.Leu1352Pro",
        "hgvsWellDefined": "XP_011509904.1:p.Leu1352Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078863"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4236,
          "referenceAllele": "T",
          "start": 4235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511603.1:c.4052T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509905.1:p.Leu1351Pro",
        "hgvsWellDefined": "XP_011509905.1:p.Leu1351Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078864"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4206,
          "referenceAllele": "T",
          "start": 4205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511604.1:c.4022T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509906.1:p.Leu1341Pro",
        "hgvsWellDefined": "XP_011509906.1:p.Leu1341Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078865"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4203,
          "referenceAllele": "T",
          "start": 4202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511605.1:c.4019T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509907.1:p.Leu1340Pro",
        "hgvsWellDefined": "XP_011509907.1:p.Leu1340Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078866"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4155,
          "referenceAllele": "T",
          "start": 4154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511606.1:c.3971T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509908.1:p.Leu1324Pro",
        "hgvsWellDefined": "XP_011509908.1:p.Leu1324Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078867"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4186,
          "endIntronDirection": "-",
          "endIntronOffset": 2924,
          "referenceAllele": "T",
          "start": 4186,
          "startIntronDirection": "-",
          "startIntronOffset": 2925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511607.1:c.4003-2925T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509909.1:n.4003-2925T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078868"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4303,
          "referenceAllele": "T",
          "start": 4302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XR_922981.1:n.4303T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS120043"
    },
    {
      "@id": "http://reg.genome.network/allele/PA303494",
      "coordinates": [
        {
          "allele": "C",
          "end": 4552,
          "referenceAllele": "T",
          "start": 4551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.2:c.4055T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Leu1352Pro",
        "hgvsWellDefined": "NP_001159435.1:p.Leu1352Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511667"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826013191",
      "coordinates": [
        {
          "allele": "C",
          "end": 4381,
          "referenceAllele": "T",
          "start": 4380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165964.2:c.3971T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159436.1:p.Leu1324Pro",
        "hgvsWellDefined": "NP_001159436.1:p.Leu1324Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511668"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826259795",
      "coordinates": [
        {
          "allele": "C",
          "end": 4366,
          "referenceAllele": "T",
          "start": 4365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001202435.2:c.4055T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189364.1:p.Leu1352Pro",
        "hgvsWellDefined": "NP_001189364.1:p.Leu1352Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511850"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827753221",
      "coordinates": [
        {
          "allele": "C",
          "end": 4373,
          "referenceAllele": "T",
          "start": 4372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353948.1:c.4055T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340877.1:p.Leu1352Pro",
        "hgvsWellDefined": "NP_001340877.1:p.Leu1352Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522051"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827759877",
      "coordinates": [
        {
          "allele": "C",
          "end": 4241,
          "referenceAllele": "T",
          "start": 4240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353949.1:c.4022T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340878.1:p.Leu1341Pro",
        "hgvsWellDefined": "NP_001340878.1:p.Leu1341Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522052"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827766443",
      "coordinates": [
        {
          "allele": "C",
          "end": 4333,
          "referenceAllele": "T",
          "start": 4332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353950.1:c.4022T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340879.1:p.Leu1341Pro",
        "hgvsWellDefined": "NP_001340879.1:p.Leu1341Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522053"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827771163",
      "coordinates": [
        {
          "allele": "C",
          "end": 4340,
          "referenceAllele": "T",
          "start": 4339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353951.1:c.4022T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340880.1:p.Leu1341Pro",
        "hgvsWellDefined": "NP_001340880.1:p.Leu1341Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522054"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827774151",
      "coordinates": [
        {
          "allele": "C",
          "end": 4432,
          "referenceAllele": "T",
          "start": 4431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353952.1:c.4022T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340881.1:p.Leu1341Pro",
        "hgvsWellDefined": "NP_001340881.1:p.Leu1341Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522055"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827777139",
      "coordinates": [
        {
          "allele": "C",
          "end": 4429,
          "referenceAllele": "T",
          "start": 4428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353954.1:c.4019T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340883.1:p.Leu1340Pro",
        "hgvsWellDefined": "NP_001340883.1:p.Leu1340Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522056"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827780124",
      "coordinates": [
        {
          "allele": "C",
          "end": 4337,
          "referenceAllele": "T",
          "start": 4336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353955.1:c.4019T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340884.1:p.Leu1340Pro",
        "hgvsWellDefined": "NP_001340884.1:p.Leu1340Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522057"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827783097",
      "coordinates": [
        {
          "allele": "C",
          "end": 4289,
          "referenceAllele": "T",
          "start": 4288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353957.1:c.3971T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340886.1:p.Leu1324Pro",
        "hgvsWellDefined": "NP_001340886.1:p.Leu1324Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522058"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827786058",
      "coordinates": [
        {
          "allele": "C",
          "end": 4282,
          "referenceAllele": "T",
          "start": 4281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353958.1:c.3971T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340887.1:p.Leu1324Pro",
        "hgvsWellDefined": "NP_001340887.1:p.Leu1324Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522059"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827789028",
      "coordinates": [
        {
          "allele": "C",
          "end": 4378,
          "referenceAllele": "T",
          "start": 4377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353960.1:c.3968T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340889.1:p.Leu1323Pro",
        "hgvsWellDefined": "NP_001340889.1:p.Leu1323Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522060"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916036739",
      "coordinates": [
        {
          "allele": "C",
          "end": 4448,
          "referenceAllele": "T",
          "start": 4447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353961.1:c.1613T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340890.1:p.Leu538Pro",
        "hgvsWellDefined": "NP_001340890.1:p.Leu538Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522061"
    },
    {
      "@id": "http://reg.genome.network/allele/PA303493",
      "coordinates": [
        {
          "allele": "C",
          "end": 4519,
          "referenceAllele": "T",
          "start": 4518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.5:c.4022T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_008851.3:p.Leu1341Pro",
        "hgvsWellDefined": "NP_008851.3:p.Leu1341Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525436"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4491,
          "referenceAllele": "T",
          "start": 4490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NR_148667.1:n.4491T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531272"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4505,
          "referenceAllele": "T",
          "start": 4504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XR_001738883.1:n.4505T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589320"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4477,
          "referenceAllele": "T",
          "start": 4476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XR_001738884.1:n.4477T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589321"
    },
    {
      "@id": "http://reg.genome.network/allele/PA303494",
      "coordinates": [
        {
          "allele": "C",
          "end": 4533,
          "referenceAllele": "T",
          "start": 4532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.3:c.4055T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Leu1352Pro",
        "hgvsWellDefined": "NP_001159435.1:p.Leu1352Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678433"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826013191",
      "coordinates": [
        {
          "allele": "C",
          "end": 4362,
          "referenceAllele": "T",
          "start": 4361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165964.3:c.3971T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159436.1:p.Leu1324Pro",
        "hgvsWellDefined": "NP_001159436.1:p.Leu1324Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678434"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826259795",
      "coordinates": [
        {
          "allele": "C",
          "end": 4311,
          "referenceAllele": "T",
          "start": 4310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001202435.3:c.4055T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189364.1:p.Leu1352Pro",
        "hgvsWellDefined": "NP_001189364.1:p.Leu1352Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679700"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827753221",
      "coordinates": [
        {
          "allele": "C",
          "end": 4354,
          "referenceAllele": "T",
          "start": 4353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353948.2:c.4055T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340877.1:p.Leu1352Pro",
        "hgvsWellDefined": "NP_001340877.1:p.Leu1352Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689996"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827759877",
      "coordinates": [
        {
          "allele": "C",
          "end": 4186,
          "referenceAllele": "T",
          "start": 4185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353949.2:c.4022T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340878.1:p.Leu1341Pro",
        "hgvsWellDefined": "NP_001340878.1:p.Leu1341Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827766443",
      "coordinates": [
        {
          "allele": "C",
          "end": 4278,
          "referenceAllele": "T",
          "start": 4277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353950.2:c.4022T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340879.1:p.Leu1341Pro",
        "hgvsWellDefined": "NP_001340879.1:p.Leu1341Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689998"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827771163",
      "coordinates": [
        {
          "allele": "C",
          "end": 4321,
          "referenceAllele": "T",
          "start": 4320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353951.2:c.4022T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340880.1:p.Leu1341Pro",
        "hgvsWellDefined": "NP_001340880.1:p.Leu1341Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689999"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827774151",
      "coordinates": [
        {
          "allele": "C",
          "end": 4413,
          "referenceAllele": "T",
          "start": 4412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353952.2:c.4022T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340881.1:p.Leu1341Pro",
        "hgvsWellDefined": "NP_001340881.1:p.Leu1341Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690000"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827777139",
      "coordinates": [
        {
          "allele": "C",
          "end": 4410,
          "referenceAllele": "T",
          "start": 4409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353954.2:c.4019T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340883.1:p.Leu1340Pro",
        "hgvsWellDefined": "NP_001340883.1:p.Leu1340Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690001"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827780124",
      "coordinates": [
        {
          "allele": "C",
          "end": 4318,
          "referenceAllele": "T",
          "start": 4317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353955.2:c.4019T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340884.1:p.Leu1340Pro",
        "hgvsWellDefined": "NP_001340884.1:p.Leu1340Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690002"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827783097",
      "coordinates": [
        {
          "allele": "C",
          "end": 4270,
          "referenceAllele": "T",
          "start": 4269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353957.2:c.3971T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340886.1:p.Leu1324Pro",
        "hgvsWellDefined": "NP_001340886.1:p.Leu1324Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690003"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827786058",
      "coordinates": [
        {
          "allele": "C",
          "end": 4227,
          "referenceAllele": "T",
          "start": 4226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353958.2:c.3971T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340887.1:p.Leu1324Pro",
        "hgvsWellDefined": "NP_001340887.1:p.Leu1324Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690004"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827789028",
      "coordinates": [
        {
          "allele": "C",
          "end": 4359,
          "referenceAllele": "T",
          "start": 4358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353960.2:c.3968T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340889.1:p.Leu1323Pro",
        "hgvsWellDefined": "NP_001340889.1:p.Leu1323Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690005"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916036739",
      "coordinates": [
        {
          "allele": "C",
          "end": 4429,
          "referenceAllele": "T",
          "start": 4428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353961.2:c.1613T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340890.1:p.Leu538Pro",
        "hgvsWellDefined": "NP_001340890.1:p.Leu538Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690006"
    },
    {
      "@id": "http://reg.genome.network/allele/PA303493",
      "coordinates": [
        {
          "allele": "C",
          "end": 4500,
          "referenceAllele": "T",
          "start": 4499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.6:c.4022T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_008851.3:p.Leu1341Pro",
        "hgvsWellDefined": "NP_008851.3:p.Leu1341Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696855"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4472,
          "referenceAllele": "T",
          "start": 4471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NR_148667.2:n.4472T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704821"
    },
    {
      "@id": "http://reg.genome.network/allele/PA303494",
      "coordinates": [
        {
          "allele": "C",
          "end": 4533,
          "referenceAllele": "T",
          "start": 4532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.4:c.4055T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Leu1352Pro",
        "hgvsWellDefined": "NP_001159435.1:p.Leu1352Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713154",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674923.1:c.4055T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001165963.4:c.4055T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501589.1:p.Leu1352Pro"
          },
          "RefSeq": {
            "hgvs": "NP_001159435.1:p.Leu1352Pro"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}