{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA349068257",
  "communityStandardTitle": [
    "NM_001165963.4(SCN1A):c.5294T>C (p.Phe1765Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1701579[alleleid]",
        "alleleId": 1701579,
        "preferredName": "NM_001165963.4(SCN1A):c.5294T>C (p.Phe1765Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1705492",
        "RCV": [
          "RCV002283806"
        ],
        "variationId": 1705492
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.166848491A>G?assembly=hg19",
        "id": "chr2:g.166848491A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.165991981A>G?assembly=hg38",
        "id": "chr2:g.165991981A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1553520199",
        "rs": 1553520199
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 165991981,
          "referenceAllele": "A",
          "start": 165991980
        }
      ],
      "hgvs": [
        "NC_000002.12:g.165991981A>G",
        "CM000664.2:g.165991981A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 166848491,
          "referenceAllele": "A",
          "start": 166848490
        }
      ],
      "hgvs": [
        "NC_000002.11:g.166848491A>G",
        "CM000664.1:g.166848491A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 166556737,
          "referenceAllele": "A",
          "start": 166556736
        }
      ],
      "hgvs": [
        "NC_000002.10:g.166556737A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 86659,
          "referenceAllele": "T",
          "start": 86658
        }
      ],
      "hgvs": [
        "NG_011906.1:g.86659T>C",
        "LRG_8:g.86659T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002054"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5437,
          "referenceAllele": "T",
          "start": 5436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000689288.1:c.*3330T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509637.1:n.*3330T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832093"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5685,
          "referenceAllele": "T",
          "start": 5684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000303395.9:c.5294T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303540.4:p.Phe1765Ser",
        "hgvsWellDefined": "ENSP00000303540.4:p.Phe1765Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745029"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5478,
          "referenceAllele": "T",
          "start": 5477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000635750.1:c.5261T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490799.1:p.Phe1754Ser",
        "hgvsWellDefined": "ENSP00000490799.1:p.Phe1754Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762613"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7286,
          "referenceAllele": "T",
          "start": 7285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000635776.1:c.*2127T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490692.1:n.*2127T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762634"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5687,
          "referenceAllele": "T",
          "start": 5686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000636194.1:c.*2787T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490288.1:n.*2787T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762941"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2156,
          "referenceAllele": "T",
          "start": 2155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000637038.1:c.2156T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763565"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5741,
          "referenceAllele": "T",
          "start": 5740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000637988.1:c.5261T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490780.1:p.Phe1754Ser",
        "hgvsWellDefined": "ENSP00000490780.1:p.Phe1754Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764260"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5310,
          "referenceAllele": "T",
          "start": 5309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000640036.1:c.5261T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491573.1:p.Phe1754Ser",
        "hgvsWellDefined": "ENSP00000491573.1:p.Phe1754Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765301"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5534,
          "referenceAllele": "T",
          "start": 5533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000641575.1:c.5258T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492917.1:p.Phe1753Ser",
        "hgvsWellDefined": "ENSP00000492917.1:p.Phe1753Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766184"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5166,
          "referenceAllele": "T",
          "start": 5165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000641603.1:c.5012T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492945.1:p.Phe1671Ser",
        "hgvsWellDefined": "ENSP00000492945.1:p.Phe1671Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766204"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5563,
          "referenceAllele": "T",
          "start": 5562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000641996.1:c.*4848T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493054.1:n.*4848T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766485"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5513,
          "referenceAllele": "T",
          "start": 5512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000671940.1:c.*3237T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500336.1:n.*3237T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773217"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7767,
          "referenceAllele": "T",
          "start": 7766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000673490.1:n.7767T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773702"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5772,
          "referenceAllele": "T",
          "start": 5771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000674923.1:c.5294T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501589.1:p.Phe1765Ser",
        "hgvsWellDefined": "ENSP00000501589.1:p.Phe1765Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774809",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674923.1:c.5294T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001165963.4:c.5294T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501589.1:p.Phe1765Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001159435.1:p.Phe1765Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5712,
          "referenceAllele": "T",
          "start": 5711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000303395.8:c.5294T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303540.4:p.Phe1765Ser",
        "hgvsWellDefined": "ENSP00000303540.4:p.Phe1765Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255312"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5279,
          "referenceAllele": "T",
          "start": 5278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000375405.7:c.5261T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364554.3:p.Phe1754Ser",
        "hgvsWellDefined": "ENSP00000364554.3:p.Phe1754Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270694"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5210,
          "referenceAllele": "T",
          "start": 5209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000409050.1:c.5210T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386312.1:p.Phe1737Ser",
        "hgvsWellDefined": "ENSP00000386312.1:p.Phe1737Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281214"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5370,
          "referenceAllele": "T",
          "start": 5369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000423058.6:c.5294T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407030.2:p.Phe1765Ser",
        "hgvsWellDefined": "ENSP00000407030.2:p.Phe1765Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287573"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826011008",
      "coordinates": [
        {
          "allele": "C",
          "end": 5312,
          "referenceAllele": "T",
          "start": 5311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.1:c.5294T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Phe1765Ser",
        "hgvsWellDefined": "NP_001159435.1:p.Phe1765Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014743"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826013927",
      "coordinates": [
        {
          "allele": "C",
          "end": 5228,
          "referenceAllele": "T",
          "start": 5227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165964.1:c.5210T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159436.1:p.Phe1737Ser",
        "hgvsWellDefined": "NP_001159436.1:p.Phe1737Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014744"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826260530",
      "coordinates": [
        {
          "allele": "C",
          "end": 5521,
          "referenceAllele": "T",
          "start": 5520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001202435.1:c.5294T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189364.1:p.Phe1765Ser",
        "hgvsWellDefined": "NP_001189364.1:p.Phe1765Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017403"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829676477",
      "coordinates": [
        {
          "allele": "C",
          "end": 5279,
          "referenceAllele": "T",
          "start": 5278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.4:c.5261T>C",
        "LRG_8t1:c.5261T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_008851.3:p.Phe1754Ser",
        "hgvsWellDefined": "NP_008851.3:p.Phe1754Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031895"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 175,
          "endIntronDirection": "-",
          "endIntronOffset": 23631,
          "referenceAllele": "A",
          "start": 175,
          "startIntronDirection": "-",
          "startIntronOffset": 23632
        }
      ],
      "hgvs": [
        "NR_110598.1:n.176-23632A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS054761"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5478,
          "referenceAllele": "T",
          "start": 5477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511598.1:c.5294T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509900.1:p.Phe1765Ser",
        "hgvsWellDefined": "XP_011509900.1:p.Phe1765Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078859"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5693,
          "referenceAllele": "T",
          "start": 5692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511599.1:c.5294T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509901.1:p.Phe1765Ser",
        "hgvsWellDefined": "XP_011509901.1:p.Phe1765Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078860"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5569,
          "referenceAllele": "T",
          "start": 5568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511600.1:c.5294T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509902.1:p.Phe1765Ser",
        "hgvsWellDefined": "XP_011509902.1:p.Phe1765Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078861"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5688,
          "referenceAllele": "T",
          "start": 5687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511601.1:c.5294T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509903.1:p.Phe1765Ser",
        "hgvsWellDefined": "XP_011509903.1:p.Phe1765Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078862"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5601,
          "referenceAllele": "T",
          "start": 5600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511602.1:c.5294T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509904.1:p.Phe1765Ser",
        "hgvsWellDefined": "XP_011509904.1:p.Phe1765Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078863"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5475,
          "referenceAllele": "T",
          "start": 5474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511603.1:c.5291T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509905.1:p.Phe1764Ser",
        "hgvsWellDefined": "XP_011509905.1:p.Phe1764Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078864"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5445,
          "referenceAllele": "T",
          "start": 5444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511604.1:c.5261T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509906.1:p.Phe1754Ser",
        "hgvsWellDefined": "XP_011509906.1:p.Phe1754Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078865"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5442,
          "referenceAllele": "T",
          "start": 5441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511605.1:c.5258T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509907.1:p.Phe1753Ser",
        "hgvsWellDefined": "XP_011509907.1:p.Phe1753Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078866"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5394,
          "referenceAllele": "T",
          "start": 5393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511606.1:c.5210T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509908.1:p.Phe1737Ser",
        "hgvsWellDefined": "XP_011509908.1:p.Phe1737Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078867"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5196,
          "referenceAllele": "T",
          "start": 5195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511607.1:c.5012T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509909.1:p.Phe1671Ser",
        "hgvsWellDefined": "XP_011509909.1:p.Phe1671Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078868"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826011008",
      "coordinates": [
        {
          "allele": "C",
          "end": 5791,
          "referenceAllele": "T",
          "start": 5790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.2:c.5294T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Phe1765Ser",
        "hgvsWellDefined": "NP_001159435.1:p.Phe1765Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511667"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826013927",
      "coordinates": [
        {
          "allele": "C",
          "end": 5620,
          "referenceAllele": "T",
          "start": 5619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165964.2:c.5210T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159436.1:p.Phe1737Ser",
        "hgvsWellDefined": "NP_001159436.1:p.Phe1737Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511668"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826260530",
      "coordinates": [
        {
          "allele": "C",
          "end": 5605,
          "referenceAllele": "T",
          "start": 5604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001202435.2:c.5294T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189364.1:p.Phe1765Ser",
        "hgvsWellDefined": "NP_001189364.1:p.Phe1765Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511850"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827754962",
      "coordinates": [
        {
          "allele": "C",
          "end": 5612,
          "referenceAllele": "T",
          "start": 5611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353948.1:c.5294T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340877.1:p.Phe1765Ser",
        "hgvsWellDefined": "NP_001340877.1:p.Phe1765Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522051"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827761491",
      "coordinates": [
        {
          "allele": "C",
          "end": 5480,
          "referenceAllele": "T",
          "start": 5479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353949.1:c.5261T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340878.1:p.Phe1754Ser",
        "hgvsWellDefined": "NP_001340878.1:p.Phe1754Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522052"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827768020",
      "coordinates": [
        {
          "allele": "C",
          "end": 5572,
          "referenceAllele": "T",
          "start": 5571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353950.1:c.5261T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340879.1:p.Phe1754Ser",
        "hgvsWellDefined": "NP_001340879.1:p.Phe1754Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522053"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827771900",
      "coordinates": [
        {
          "allele": "C",
          "end": 5579,
          "referenceAllele": "T",
          "start": 5578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353951.1:c.5261T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340880.1:p.Phe1754Ser",
        "hgvsWellDefined": "NP_001340880.1:p.Phe1754Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522054"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827774888",
      "coordinates": [
        {
          "allele": "C",
          "end": 5671,
          "referenceAllele": "T",
          "start": 5670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353952.1:c.5261T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340881.1:p.Phe1754Ser",
        "hgvsWellDefined": "NP_001340881.1:p.Phe1754Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522055"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827777875",
      "coordinates": [
        {
          "allele": "C",
          "end": 5668,
          "referenceAllele": "T",
          "start": 5667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353954.1:c.5258T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340883.1:p.Phe1753Ser",
        "hgvsWellDefined": "NP_001340883.1:p.Phe1753Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522056"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827780863",
      "coordinates": [
        {
          "allele": "C",
          "end": 5576,
          "referenceAllele": "T",
          "start": 5575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353955.1:c.5258T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340884.1:p.Phe1753Ser",
        "hgvsWellDefined": "NP_001340884.1:p.Phe1753Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522057"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827783833",
      "coordinates": [
        {
          "allele": "C",
          "end": 5528,
          "referenceAllele": "T",
          "start": 5527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353957.1:c.5210T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340886.1:p.Phe1737Ser",
        "hgvsWellDefined": "NP_001340886.1:p.Phe1737Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522058"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827786794",
      "coordinates": [
        {
          "allele": "C",
          "end": 5521,
          "referenceAllele": "T",
          "start": 5520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353958.1:c.5210T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340887.1:p.Phe1737Ser",
        "hgvsWellDefined": "NP_001340887.1:p.Phe1737Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522059"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827789765",
      "coordinates": [
        {
          "allele": "C",
          "end": 5617,
          "referenceAllele": "T",
          "start": 5616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353960.1:c.5207T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340889.1:p.Phe1736Ser",
        "hgvsWellDefined": "NP_001340889.1:p.Phe1736Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522060"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580230253",
      "coordinates": [
        {
          "allele": "C",
          "end": 5687,
          "referenceAllele": "T",
          "start": 5686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353961.1:c.2852T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340890.1:p.Phe951Ser",
        "hgvsWellDefined": "NP_001340890.1:p.Phe951Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522061"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829676477",
      "coordinates": [
        {
          "allele": "C",
          "end": 5758,
          "referenceAllele": "T",
          "start": 5757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.5:c.5261T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_008851.3:p.Phe1754Ser",
        "hgvsWellDefined": "NP_008851.3:p.Phe1754Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525436"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5730,
          "referenceAllele": "T",
          "start": 5729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NR_148667.1:n.5730T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531272"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5744,
          "referenceAllele": "T",
          "start": 5743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XR_001738883.1:n.5744T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589320"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5716,
          "referenceAllele": "T",
          "start": 5715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XR_001738884.1:n.5716T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589321"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826011008",
      "coordinates": [
        {
          "allele": "C",
          "end": 5772,
          "referenceAllele": "T",
          "start": 5771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.3:c.5294T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Phe1765Ser",
        "hgvsWellDefined": "NP_001159435.1:p.Phe1765Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678433"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826013927",
      "coordinates": [
        {
          "allele": "C",
          "end": 5601,
          "referenceAllele": "T",
          "start": 5600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165964.3:c.5210T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159436.1:p.Phe1737Ser",
        "hgvsWellDefined": "NP_001159436.1:p.Phe1737Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678434"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826260530",
      "coordinates": [
        {
          "allele": "C",
          "end": 5550,
          "referenceAllele": "T",
          "start": 5549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001202435.3:c.5294T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189364.1:p.Phe1765Ser",
        "hgvsWellDefined": "NP_001189364.1:p.Phe1765Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679700"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827754962",
      "coordinates": [
        {
          "allele": "C",
          "end": 5593,
          "referenceAllele": "T",
          "start": 5592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353948.2:c.5294T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340877.1:p.Phe1765Ser",
        "hgvsWellDefined": "NP_001340877.1:p.Phe1765Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689996"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827761491",
      "coordinates": [
        {
          "allele": "C",
          "end": 5425,
          "referenceAllele": "T",
          "start": 5424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353949.2:c.5261T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340878.1:p.Phe1754Ser",
        "hgvsWellDefined": "NP_001340878.1:p.Phe1754Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827768020",
      "coordinates": [
        {
          "allele": "C",
          "end": 5517,
          "referenceAllele": "T",
          "start": 5516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353950.2:c.5261T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340879.1:p.Phe1754Ser",
        "hgvsWellDefined": "NP_001340879.1:p.Phe1754Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689998"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827771900",
      "coordinates": [
        {
          "allele": "C",
          "end": 5560,
          "referenceAllele": "T",
          "start": 5559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353951.2:c.5261T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340880.1:p.Phe1754Ser",
        "hgvsWellDefined": "NP_001340880.1:p.Phe1754Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689999"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827774888",
      "coordinates": [
        {
          "allele": "C",
          "end": 5652,
          "referenceAllele": "T",
          "start": 5651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353952.2:c.5261T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340881.1:p.Phe1754Ser",
        "hgvsWellDefined": "NP_001340881.1:p.Phe1754Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690000"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827777875",
      "coordinates": [
        {
          "allele": "C",
          "end": 5649,
          "referenceAllele": "T",
          "start": 5648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353954.2:c.5258T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340883.1:p.Phe1753Ser",
        "hgvsWellDefined": "NP_001340883.1:p.Phe1753Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690001"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827780863",
      "coordinates": [
        {
          "allele": "C",
          "end": 5557,
          "referenceAllele": "T",
          "start": 5556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353955.2:c.5258T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340884.1:p.Phe1753Ser",
        "hgvsWellDefined": "NP_001340884.1:p.Phe1753Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690002"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827783833",
      "coordinates": [
        {
          "allele": "C",
          "end": 5509,
          "referenceAllele": "T",
          "start": 5508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353957.2:c.5210T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340886.1:p.Phe1737Ser",
        "hgvsWellDefined": "NP_001340886.1:p.Phe1737Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690003"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827786794",
      "coordinates": [
        {
          "allele": "C",
          "end": 5466,
          "referenceAllele": "T",
          "start": 5465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353958.2:c.5210T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340887.1:p.Phe1737Ser",
        "hgvsWellDefined": "NP_001340887.1:p.Phe1737Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690004"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827789765",
      "coordinates": [
        {
          "allele": "C",
          "end": 5598,
          "referenceAllele": "T",
          "start": 5597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353960.2:c.5207T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340889.1:p.Phe1736Ser",
        "hgvsWellDefined": "NP_001340889.1:p.Phe1736Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690005"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580230253",
      "coordinates": [
        {
          "allele": "C",
          "end": 5668,
          "referenceAllele": "T",
          "start": 5667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353961.2:c.2852T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340890.1:p.Phe951Ser",
        "hgvsWellDefined": "NP_001340890.1:p.Phe951Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690006"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829676477",
      "coordinates": [
        {
          "allele": "C",
          "end": 5739,
          "referenceAllele": "T",
          "start": 5738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.6:c.5261T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_008851.3:p.Phe1754Ser",
        "hgvsWellDefined": "NP_008851.3:p.Phe1754Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696855"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5711,
          "referenceAllele": "T",
          "start": 5710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NR_148667.2:n.5711T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704821"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826011008",
      "coordinates": [
        {
          "allele": "C",
          "end": 5772,
          "referenceAllele": "T",
          "start": 5771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.4:c.5294T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Phe1765Ser",
        "hgvsWellDefined": "NP_001159435.1:p.Phe1765Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713154",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674923.1:c.5294T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001165963.4:c.5294T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501589.1:p.Phe1765Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001159435.1:p.Phe1765Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}