{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA266126",
  "communityStandardTitle": [
    "NM_001165963.4(SCN1A):c.5383G>A (p.Glu1795Lys)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4423787",
        "active": true,
        "id": "COSM4423787"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4423788",
        "active": true,
        "id": "COSM4423788"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4423789",
        "active": true,
        "id": "COSM4423789"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=79552[alleleid]",
        "alleleId": 79552,
        "preferredName": "NM_001165963.4(SCN1A):c.5383G>A (p.Glu1795Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/68660",
        "RCV": [
          "RCV000059540",
          "RCV000489760",
          "RCV000764284",
          "RCV000792317"
        ],
        "variationId": 68660
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.166848402C>T?assembly=hg19",
        "id": "chr2:g.166848402C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.165991892C>T?assembly=hg38",
        "id": "chr2:g.165991892C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121918813",
        "rs": 121918813
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 165991892,
          "referenceAllele": "C",
          "start": 165991891
        }
      ],
      "hgvs": [
        "NC_000002.12:g.165991892C>T",
        "CM000664.2:g.165991892C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 166848402,
          "referenceAllele": "C",
          "start": 166848401
        }
      ],
      "hgvs": [
        "NC_000002.11:g.166848402C>T",
        "CM000664.1:g.166848402C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 166556648,
          "referenceAllele": "C",
          "start": 166556647
        }
      ],
      "hgvs": [
        "NC_000002.10:g.166556648C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 86748,
          "referenceAllele": "G",
          "start": 86747
        }
      ],
      "hgvs": [
        "NG_011906.1:g.86748G>A",
        "LRG_8:g.86748G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002054"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5526,
          "referenceAllele": "G",
          "start": 5525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000689288.1:c.*3419G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509637.1:n.*3419G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832093"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5774,
          "referenceAllele": "G",
          "start": 5773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000303395.9:c.5383G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303540.4:p.Glu1795Lys",
        "hgvsWellDefined": "ENSP00000303540.4:p.Glu1795Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745029"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5567,
          "referenceAllele": "G",
          "start": 5566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000635750.1:c.5350G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490799.1:p.Glu1784Lys",
        "hgvsWellDefined": "ENSP00000490799.1:p.Glu1784Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762613"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7375,
          "referenceAllele": "G",
          "start": 7374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000635776.1:c.*2216G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490692.1:n.*2216G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762634"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5776,
          "referenceAllele": "G",
          "start": 5775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000636194.1:c.*2876G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490288.1:n.*2876G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762941"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2245,
          "referenceAllele": "G",
          "start": 2244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000637038.1:c.2245G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763565"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5830,
          "referenceAllele": "G",
          "start": 5829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000637988.1:c.5350G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490780.1:p.Glu1784Lys",
        "hgvsWellDefined": "ENSP00000490780.1:p.Glu1784Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764260"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5399,
          "referenceAllele": "G",
          "start": 5398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000640036.1:c.5350G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491573.1:p.Glu1784Lys",
        "hgvsWellDefined": "ENSP00000491573.1:p.Glu1784Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765301"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5623,
          "referenceAllele": "G",
          "start": 5622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000641575.1:c.5347G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492917.1:p.Glu1783Lys",
        "hgvsWellDefined": "ENSP00000492917.1:p.Glu1783Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766184"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5255,
          "referenceAllele": "G",
          "start": 5254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000641603.1:c.5101G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492945.1:p.Glu1701Lys",
        "hgvsWellDefined": "ENSP00000492945.1:p.Glu1701Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766204"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5652,
          "referenceAllele": "G",
          "start": 5651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000641996.1:c.*4937G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493054.1:n.*4937G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766485"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5602,
          "referenceAllele": "G",
          "start": 5601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000671940.1:c.*3326G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500336.1:n.*3326G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773217"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7856,
          "referenceAllele": "G",
          "start": 7855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000673490.1:n.7856G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773702"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5861,
          "referenceAllele": "G",
          "start": 5860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000674923.1:c.5383G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501589.1:p.Glu1795Lys",
        "hgvsWellDefined": "ENSP00000501589.1:p.Glu1795Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774809",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674923.1:c.5383G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001165963.4:c.5383G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501589.1:p.Glu1795Lys"
          },
          "RefSeq": {
            "hgvs": "NP_001159435.1:p.Glu1795Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5801,
          "referenceAllele": "G",
          "start": 5800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000303395.8:c.5383G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303540.4:p.Glu1795Lys",
        "hgvsWellDefined": "ENSP00000303540.4:p.Glu1795Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255312"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5368,
          "referenceAllele": "G",
          "start": 5367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000375405.7:c.5350G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364554.3:p.Glu1784Lys",
        "hgvsWellDefined": "ENSP00000364554.3:p.Glu1784Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270694"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5299,
          "referenceAllele": "G",
          "start": 5298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000409050.1:c.5299G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386312.1:p.Glu1767Lys",
        "hgvsWellDefined": "ENSP00000386312.1:p.Glu1767Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281214"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5459,
          "referenceAllele": "G",
          "start": 5458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000423058.6:c.5383G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407030.2:p.Glu1795Lys",
        "hgvsWellDefined": "ENSP00000407030.2:p.Glu1795Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287573"
    },
    {
      "@id": "http://reg.genome.network/allele/PA107535",
      "coordinates": [
        {
          "allele": "A",
          "end": 5401,
          "referenceAllele": "G",
          "start": 5400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.1:c.5383G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Glu1795Lys",
        "hgvsWellDefined": "NP_001159435.1:p.Glu1795Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014743"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826013985",
      "coordinates": [
        {
          "allele": "A",
          "end": 5317,
          "referenceAllele": "G",
          "start": 5316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165964.1:c.5299G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159436.1:p.Glu1767Lys",
        "hgvsWellDefined": "NP_001159436.1:p.Glu1767Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014744"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826260587",
      "coordinates": [
        {
          "allele": "A",
          "end": 5610,
          "referenceAllele": "G",
          "start": 5609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001202435.1:c.5383G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189364.1:p.Glu1795Lys",
        "hgvsWellDefined": "NP_001189364.1:p.Glu1795Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017403"
    },
    {
      "@id": "http://reg.genome.network/allele/PA266128",
      "coordinates": [
        {
          "allele": "A",
          "end": 5368,
          "referenceAllele": "G",
          "start": 5367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.4:c.5350G>A",
        "LRG_8t1:c.5350G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_008851.3:p.Glu1784Lys",
        "hgvsWellDefined": "NP_008851.3:p.Glu1784Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031895"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 175,
          "endIntronDirection": "-",
          "endIntronOffset": 23720,
          "referenceAllele": "C",
          "start": 175,
          "startIntronDirection": "-",
          "startIntronOffset": 23721
        }
      ],
      "hgvs": [
        "NR_110598.1:n.176-23721C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS054761"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5567,
          "referenceAllele": "G",
          "start": 5566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511598.1:c.5383G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509900.1:p.Glu1795Lys",
        "hgvsWellDefined": "XP_011509900.1:p.Glu1795Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078859"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5782,
          "referenceAllele": "G",
          "start": 5781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511599.1:c.5383G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509901.1:p.Glu1795Lys",
        "hgvsWellDefined": "XP_011509901.1:p.Glu1795Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078860"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5658,
          "referenceAllele": "G",
          "start": 5657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511600.1:c.5383G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509902.1:p.Glu1795Lys",
        "hgvsWellDefined": "XP_011509902.1:p.Glu1795Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078861"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5777,
          "referenceAllele": "G",
          "start": 5776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511601.1:c.5383G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509903.1:p.Glu1795Lys",
        "hgvsWellDefined": "XP_011509903.1:p.Glu1795Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078862"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5690,
          "referenceAllele": "G",
          "start": 5689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511602.1:c.5383G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509904.1:p.Glu1795Lys",
        "hgvsWellDefined": "XP_011509904.1:p.Glu1795Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078863"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5564,
          "referenceAllele": "G",
          "start": 5563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511603.1:c.5380G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509905.1:p.Glu1794Lys",
        "hgvsWellDefined": "XP_011509905.1:p.Glu1794Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078864"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5534,
          "referenceAllele": "G",
          "start": 5533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511604.1:c.5350G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509906.1:p.Glu1784Lys",
        "hgvsWellDefined": "XP_011509906.1:p.Glu1784Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078865"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5531,
          "referenceAllele": "G",
          "start": 5530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511605.1:c.5347G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509907.1:p.Glu1783Lys",
        "hgvsWellDefined": "XP_011509907.1:p.Glu1783Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078866"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5483,
          "referenceAllele": "G",
          "start": 5482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511606.1:c.5299G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509908.1:p.Glu1767Lys",
        "hgvsWellDefined": "XP_011509908.1:p.Glu1767Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078867"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5285,
          "referenceAllele": "G",
          "start": 5284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511607.1:c.5101G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509909.1:p.Glu1701Lys",
        "hgvsWellDefined": "XP_011509909.1:p.Glu1701Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078868"
    },
    {
      "@id": "http://reg.genome.network/allele/PA107535",
      "coordinates": [
        {
          "allele": "A",
          "end": 5880,
          "referenceAllele": "G",
          "start": 5879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.2:c.5383G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Glu1795Lys",
        "hgvsWellDefined": "NP_001159435.1:p.Glu1795Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511667"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826013985",
      "coordinates": [
        {
          "allele": "A",
          "end": 5709,
          "referenceAllele": "G",
          "start": 5708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165964.2:c.5299G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159436.1:p.Glu1767Lys",
        "hgvsWellDefined": "NP_001159436.1:p.Glu1767Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511668"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826260587",
      "coordinates": [
        {
          "allele": "A",
          "end": 5694,
          "referenceAllele": "G",
          "start": 5693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001202435.2:c.5383G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189364.1:p.Glu1795Lys",
        "hgvsWellDefined": "NP_001189364.1:p.Glu1795Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511850"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827755089",
      "coordinates": [
        {
          "allele": "A",
          "end": 5701,
          "referenceAllele": "G",
          "start": 5700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353948.1:c.5383G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340877.1:p.Glu1795Lys",
        "hgvsWellDefined": "NP_001340877.1:p.Glu1795Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522051"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827761604",
      "coordinates": [
        {
          "allele": "A",
          "end": 5569,
          "referenceAllele": "G",
          "start": 5568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353949.1:c.5350G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340878.1:p.Glu1784Lys",
        "hgvsWellDefined": "NP_001340878.1:p.Glu1784Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522052"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827768147",
      "coordinates": [
        {
          "allele": "A",
          "end": 5661,
          "referenceAllele": "G",
          "start": 5660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353950.1:c.5350G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340879.1:p.Glu1784Lys",
        "hgvsWellDefined": "NP_001340879.1:p.Glu1784Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522053"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827771958",
      "coordinates": [
        {
          "allele": "A",
          "end": 5668,
          "referenceAllele": "G",
          "start": 5667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353951.1:c.5350G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340880.1:p.Glu1784Lys",
        "hgvsWellDefined": "NP_001340880.1:p.Glu1784Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522054"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827774946",
      "coordinates": [
        {
          "allele": "A",
          "end": 5760,
          "referenceAllele": "G",
          "start": 5759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353952.1:c.5350G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340881.1:p.Glu1784Lys",
        "hgvsWellDefined": "NP_001340881.1:p.Glu1784Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522055"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827777934",
      "coordinates": [
        {
          "allele": "A",
          "end": 5757,
          "referenceAllele": "G",
          "start": 5756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353954.1:c.5347G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340883.1:p.Glu1783Lys",
        "hgvsWellDefined": "NP_001340883.1:p.Glu1783Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522056"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827780919",
      "coordinates": [
        {
          "allele": "A",
          "end": 5665,
          "referenceAllele": "G",
          "start": 5664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353955.1:c.5347G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340884.1:p.Glu1783Lys",
        "hgvsWellDefined": "NP_001340884.1:p.Glu1783Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522057"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827783890",
      "coordinates": [
        {
          "allele": "A",
          "end": 5617,
          "referenceAllele": "G",
          "start": 5616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353957.1:c.5299G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340886.1:p.Glu1767Lys",
        "hgvsWellDefined": "NP_001340886.1:p.Glu1767Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522058"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827786852",
      "coordinates": [
        {
          "allele": "A",
          "end": 5610,
          "referenceAllele": "G",
          "start": 5609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353958.1:c.5299G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340887.1:p.Glu1767Lys",
        "hgvsWellDefined": "NP_001340887.1:p.Glu1767Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522059"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827789822",
      "coordinates": [
        {
          "allele": "A",
          "end": 5706,
          "referenceAllele": "G",
          "start": 5705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353960.1:c.5296G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340889.1:p.Glu1766Lys",
        "hgvsWellDefined": "NP_001340889.1:p.Glu1766Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522060"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916037016",
      "coordinates": [
        {
          "allele": "A",
          "end": 5776,
          "referenceAllele": "G",
          "start": 5775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353961.1:c.2941G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340890.1:p.Glu981Lys",
        "hgvsWellDefined": "NP_001340890.1:p.Glu981Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522061"
    },
    {
      "@id": "http://reg.genome.network/allele/PA266128",
      "coordinates": [
        {
          "allele": "A",
          "end": 5847,
          "referenceAllele": "G",
          "start": 5846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.5:c.5350G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_008851.3:p.Glu1784Lys",
        "hgvsWellDefined": "NP_008851.3:p.Glu1784Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525436"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5819,
          "referenceAllele": "G",
          "start": 5818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NR_148667.1:n.5819G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531272"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5833,
          "referenceAllele": "G",
          "start": 5832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XR_001738883.1:n.5833G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589320"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5805,
          "referenceAllele": "G",
          "start": 5804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XR_001738884.1:n.5805G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589321"
    },
    {
      "@id": "http://reg.genome.network/allele/PA107535",
      "coordinates": [
        {
          "allele": "A",
          "end": 5861,
          "referenceAllele": "G",
          "start": 5860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.3:c.5383G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Glu1795Lys",
        "hgvsWellDefined": "NP_001159435.1:p.Glu1795Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678433"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826013985",
      "coordinates": [
        {
          "allele": "A",
          "end": 5690,
          "referenceAllele": "G",
          "start": 5689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165964.3:c.5299G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159436.1:p.Glu1767Lys",
        "hgvsWellDefined": "NP_001159436.1:p.Glu1767Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678434"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826260587",
      "coordinates": [
        {
          "allele": "A",
          "end": 5639,
          "referenceAllele": "G",
          "start": 5638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001202435.3:c.5383G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189364.1:p.Glu1795Lys",
        "hgvsWellDefined": "NP_001189364.1:p.Glu1795Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679700"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827755089",
      "coordinates": [
        {
          "allele": "A",
          "end": 5682,
          "referenceAllele": "G",
          "start": 5681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353948.2:c.5383G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340877.1:p.Glu1795Lys",
        "hgvsWellDefined": "NP_001340877.1:p.Glu1795Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689996"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827761604",
      "coordinates": [
        {
          "allele": "A",
          "end": 5514,
          "referenceAllele": "G",
          "start": 5513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353949.2:c.5350G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340878.1:p.Glu1784Lys",
        "hgvsWellDefined": "NP_001340878.1:p.Glu1784Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827768147",
      "coordinates": [
        {
          "allele": "A",
          "end": 5606,
          "referenceAllele": "G",
          "start": 5605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353950.2:c.5350G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340879.1:p.Glu1784Lys",
        "hgvsWellDefined": "NP_001340879.1:p.Glu1784Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689998"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827771958",
      "coordinates": [
        {
          "allele": "A",
          "end": 5649,
          "referenceAllele": "G",
          "start": 5648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353951.2:c.5350G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340880.1:p.Glu1784Lys",
        "hgvsWellDefined": "NP_001340880.1:p.Glu1784Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689999"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827774946",
      "coordinates": [
        {
          "allele": "A",
          "end": 5741,
          "referenceAllele": "G",
          "start": 5740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353952.2:c.5350G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340881.1:p.Glu1784Lys",
        "hgvsWellDefined": "NP_001340881.1:p.Glu1784Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690000"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827777934",
      "coordinates": [
        {
          "allele": "A",
          "end": 5738,
          "referenceAllele": "G",
          "start": 5737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353954.2:c.5347G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340883.1:p.Glu1783Lys",
        "hgvsWellDefined": "NP_001340883.1:p.Glu1783Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690001"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827780919",
      "coordinates": [
        {
          "allele": "A",
          "end": 5646,
          "referenceAllele": "G",
          "start": 5645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353955.2:c.5347G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340884.1:p.Glu1783Lys",
        "hgvsWellDefined": "NP_001340884.1:p.Glu1783Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690002"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827783890",
      "coordinates": [
        {
          "allele": "A",
          "end": 5598,
          "referenceAllele": "G",
          "start": 5597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353957.2:c.5299G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340886.1:p.Glu1767Lys",
        "hgvsWellDefined": "NP_001340886.1:p.Glu1767Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690003"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827786852",
      "coordinates": [
        {
          "allele": "A",
          "end": 5555,
          "referenceAllele": "G",
          "start": 5554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353958.2:c.5299G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340887.1:p.Glu1767Lys",
        "hgvsWellDefined": "NP_001340887.1:p.Glu1767Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690004"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827789822",
      "coordinates": [
        {
          "allele": "A",
          "end": 5687,
          "referenceAllele": "G",
          "start": 5686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353960.2:c.5296G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340889.1:p.Glu1766Lys",
        "hgvsWellDefined": "NP_001340889.1:p.Glu1766Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690005"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916037016",
      "coordinates": [
        {
          "allele": "A",
          "end": 5757,
          "referenceAllele": "G",
          "start": 5756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353961.2:c.2941G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340890.1:p.Glu981Lys",
        "hgvsWellDefined": "NP_001340890.1:p.Glu981Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690006"
    },
    {
      "@id": "http://reg.genome.network/allele/PA266128",
      "coordinates": [
        {
          "allele": "A",
          "end": 5828,
          "referenceAllele": "G",
          "start": 5827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.6:c.5350G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_008851.3:p.Glu1784Lys",
        "hgvsWellDefined": "NP_008851.3:p.Glu1784Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696855"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5800,
          "referenceAllele": "G",
          "start": 5799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NR_148667.2:n.5800G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704821"
    },
    {
      "@id": "http://reg.genome.network/allele/PA107535",
      "coordinates": [
        {
          "allele": "A",
          "end": 5861,
          "referenceAllele": "G",
          "start": 5860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.4:c.5383G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Glu1795Lys",
        "hgvsWellDefined": "NP_001159435.1:p.Glu1795Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713154",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674923.1:c.5383G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001165963.4:c.5383G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501589.1:p.Glu1795Lys"
          },
          "RefSeq": {
            "hgvs": "NP_001159435.1:p.Glu1795Lys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}