{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA285195",
  "communityStandardTitle": [
    "NM_001165963.4(SCN1A):c.4982T>C (p.Phe1661Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=79536[alleleid]",
        "alleleId": 79536,
        "preferredName": "NM_001165963.4(SCN1A):c.4982T>C (p.Phe1661Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/68644",
        "RCV": [
          "RCV000059524"
        ],
        "variationId": 68644
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.166848803A>G?assembly=hg19",
        "id": "chr2:g.166848803A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.165992293A>G?assembly=hg38",
        "id": "chr2:g.165992293A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121918797",
        "rs": 121918797
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 165992293,
          "referenceAllele": "A",
          "start": 165992292
        }
      ],
      "hgvs": [
        "NC_000002.12:g.165992293A>G",
        "CM000664.2:g.165992293A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 166848803,
          "referenceAllele": "A",
          "start": 166848802
        }
      ],
      "hgvs": [
        "NC_000002.11:g.166848803A>G",
        "CM000664.1:g.166848803A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 166557049,
          "referenceAllele": "A",
          "start": 166557048
        }
      ],
      "hgvs": [
        "NC_000002.10:g.166557049A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 86347,
          "referenceAllele": "T",
          "start": 86346
        }
      ],
      "hgvs": [
        "NG_011906.1:g.86347T>C",
        "LRG_8:g.86347T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002054"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5125,
          "referenceAllele": "T",
          "start": 5124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000689288.1:c.*3018T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509637.1:n.*3018T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832093"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5373,
          "referenceAllele": "T",
          "start": 5372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000303395.9:c.4982T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303540.4:p.Phe1661Ser",
        "hgvsWellDefined": "ENSP00000303540.4:p.Phe1661Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745029"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5166,
          "referenceAllele": "T",
          "start": 5165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000635750.1:c.4949T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490799.1:p.Phe1650Ser",
        "hgvsWellDefined": "ENSP00000490799.1:p.Phe1650Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762613"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6974,
          "referenceAllele": "T",
          "start": 6973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000635776.1:c.*1815T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490692.1:n.*1815T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762634"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5375,
          "referenceAllele": "T",
          "start": 5374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000636194.1:c.*2475T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490288.1:n.*2475T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762941"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1844,
          "referenceAllele": "T",
          "start": 1843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000637038.1:c.1844T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763565"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5429,
          "referenceAllele": "T",
          "start": 5428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000637988.1:c.4949T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490780.1:p.Phe1650Ser",
        "hgvsWellDefined": "ENSP00000490780.1:p.Phe1650Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764260"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4998,
          "referenceAllele": "T",
          "start": 4997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000640036.1:c.4949T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491573.1:p.Phe1650Ser",
        "hgvsWellDefined": "ENSP00000491573.1:p.Phe1650Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765301"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5222,
          "referenceAllele": "T",
          "start": 5221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000641575.1:c.4946T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492917.1:p.Phe1649Ser",
        "hgvsWellDefined": "ENSP00000492917.1:p.Phe1649Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766184"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4854,
          "referenceAllele": "T",
          "start": 4853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000641603.1:c.4700T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492945.1:p.Phe1567Ser",
        "hgvsWellDefined": "ENSP00000492945.1:p.Phe1567Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766204"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5251,
          "referenceAllele": "T",
          "start": 5250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000641996.1:c.*4536T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493054.1:n.*4536T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766485"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5201,
          "referenceAllele": "T",
          "start": 5200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000671940.1:c.*2925T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500336.1:n.*2925T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773217"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7455,
          "referenceAllele": "T",
          "start": 7454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000673490.1:n.7455T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773702"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5460,
          "referenceAllele": "T",
          "start": 5459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000674923.1:c.4982T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501589.1:p.Phe1661Ser",
        "hgvsWellDefined": "ENSP00000501589.1:p.Phe1661Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774809",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674923.1:c.4982T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001165963.4:c.4982T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501589.1:p.Phe1661Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001159435.1:p.Phe1661Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5400,
          "referenceAllele": "T",
          "start": 5399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000303395.8:c.4982T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303540.4:p.Phe1661Ser",
        "hgvsWellDefined": "ENSP00000303540.4:p.Phe1661Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255312"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4967,
          "referenceAllele": "T",
          "start": 4966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000375405.7:c.4949T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364554.3:p.Phe1650Ser",
        "hgvsWellDefined": "ENSP00000364554.3:p.Phe1650Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270694"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4898,
          "referenceAllele": "T",
          "start": 4897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000409050.1:c.4898T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386312.1:p.Phe1633Ser",
        "hgvsWellDefined": "ENSP00000386312.1:p.Phe1633Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281214"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5058,
          "referenceAllele": "T",
          "start": 5057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000423058.6:c.4982T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407030.2:p.Phe1661Ser",
        "hgvsWellDefined": "ENSP00000407030.2:p.Phe1661Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287573"
    },
    {
      "@id": "http://reg.genome.network/allele/PA108106",
      "coordinates": [
        {
          "allele": "C",
          "end": 5000,
          "referenceAllele": "T",
          "start": 4999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.1:c.4982T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Phe1661Ser",
        "hgvsWellDefined": "NP_001159435.1:p.Phe1661Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014743"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826013726",
      "coordinates": [
        {
          "allele": "C",
          "end": 4916,
          "referenceAllele": "T",
          "start": 4915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165964.1:c.4898T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159436.1:p.Phe1633Ser",
        "hgvsWellDefined": "NP_001159436.1:p.Phe1633Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014744"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826260327",
      "coordinates": [
        {
          "allele": "C",
          "end": 5209,
          "referenceAllele": "T",
          "start": 5208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001202435.1:c.4982T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189364.1:p.Phe1661Ser",
        "hgvsWellDefined": "NP_001189364.1:p.Phe1661Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017403"
    },
    {
      "@id": "http://reg.genome.network/allele/PA285197",
      "coordinates": [
        {
          "allele": "C",
          "end": 4967,
          "referenceAllele": "T",
          "start": 4966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.4:c.4949T>C",
        "LRG_8t1:c.4949T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_008851.3:p.Phe1650Ser",
        "hgvsWellDefined": "NP_008851.3:p.Phe1650Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031895"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 175,
          "endIntronDirection": "-",
          "endIntronOffset": 23319,
          "referenceAllele": "A",
          "start": 175,
          "startIntronDirection": "-",
          "startIntronOffset": 23320
        }
      ],
      "hgvs": [
        "NR_110598.1:n.176-23320A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS054761"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5166,
          "referenceAllele": "T",
          "start": 5165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511598.1:c.4982T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509900.1:p.Phe1661Ser",
        "hgvsWellDefined": "XP_011509900.1:p.Phe1661Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078859"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5381,
          "referenceAllele": "T",
          "start": 5380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511599.1:c.4982T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509901.1:p.Phe1661Ser",
        "hgvsWellDefined": "XP_011509901.1:p.Phe1661Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078860"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5257,
          "referenceAllele": "T",
          "start": 5256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511600.1:c.4982T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509902.1:p.Phe1661Ser",
        "hgvsWellDefined": "XP_011509902.1:p.Phe1661Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078861"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5376,
          "referenceAllele": "T",
          "start": 5375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511601.1:c.4982T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509903.1:p.Phe1661Ser",
        "hgvsWellDefined": "XP_011509903.1:p.Phe1661Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078862"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5289,
          "referenceAllele": "T",
          "start": 5288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511602.1:c.4982T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509904.1:p.Phe1661Ser",
        "hgvsWellDefined": "XP_011509904.1:p.Phe1661Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078863"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5163,
          "referenceAllele": "T",
          "start": 5162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511603.1:c.4979T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509905.1:p.Phe1660Ser",
        "hgvsWellDefined": "XP_011509905.1:p.Phe1660Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078864"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5133,
          "referenceAllele": "T",
          "start": 5132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511604.1:c.4949T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509906.1:p.Phe1650Ser",
        "hgvsWellDefined": "XP_011509906.1:p.Phe1650Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078865"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5130,
          "referenceAllele": "T",
          "start": 5129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511605.1:c.4946T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509907.1:p.Phe1649Ser",
        "hgvsWellDefined": "XP_011509907.1:p.Phe1649Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078866"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5082,
          "referenceAllele": "T",
          "start": 5081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511606.1:c.4898T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509908.1:p.Phe1633Ser",
        "hgvsWellDefined": "XP_011509908.1:p.Phe1633Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078867"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4884,
          "referenceAllele": "T",
          "start": 4883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511607.1:c.4700T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509909.1:p.Phe1567Ser",
        "hgvsWellDefined": "XP_011509909.1:p.Phe1567Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078868"
    },
    {
      "@id": "http://reg.genome.network/allele/PA108106",
      "coordinates": [
        {
          "allele": "C",
          "end": 5479,
          "referenceAllele": "T",
          "start": 5478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.2:c.4982T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Phe1661Ser",
        "hgvsWellDefined": "NP_001159435.1:p.Phe1661Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511667"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826013726",
      "coordinates": [
        {
          "allele": "C",
          "end": 5308,
          "referenceAllele": "T",
          "start": 5307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165964.2:c.4898T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159436.1:p.Phe1633Ser",
        "hgvsWellDefined": "NP_001159436.1:p.Phe1633Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511668"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826260327",
      "coordinates": [
        {
          "allele": "C",
          "end": 5293,
          "referenceAllele": "T",
          "start": 5292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001202435.2:c.4982T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189364.1:p.Phe1661Ser",
        "hgvsWellDefined": "NP_001189364.1:p.Phe1661Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511850"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827754455",
      "coordinates": [
        {
          "allele": "C",
          "end": 5300,
          "referenceAllele": "T",
          "start": 5299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353948.1:c.4982T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340877.1:p.Phe1661Ser",
        "hgvsWellDefined": "NP_001340877.1:p.Phe1661Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522051"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827761013",
      "coordinates": [
        {
          "allele": "C",
          "end": 5168,
          "referenceAllele": "T",
          "start": 5167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353949.1:c.4949T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340878.1:p.Phe1650Ser",
        "hgvsWellDefined": "NP_001340878.1:p.Phe1650Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522052"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827767603",
      "coordinates": [
        {
          "allele": "C",
          "end": 5260,
          "referenceAllele": "T",
          "start": 5259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353950.1:c.4949T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340879.1:p.Phe1650Ser",
        "hgvsWellDefined": "NP_001340879.1:p.Phe1650Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522053"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827771700",
      "coordinates": [
        {
          "allele": "C",
          "end": 5267,
          "referenceAllele": "T",
          "start": 5266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353951.1:c.4949T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340880.1:p.Phe1650Ser",
        "hgvsWellDefined": "NP_001340880.1:p.Phe1650Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522054"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827774687",
      "coordinates": [
        {
          "allele": "C",
          "end": 5359,
          "referenceAllele": "T",
          "start": 5358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353952.1:c.4949T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340881.1:p.Phe1650Ser",
        "hgvsWellDefined": "NP_001340881.1:p.Phe1650Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522055"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827777675",
      "coordinates": [
        {
          "allele": "C",
          "end": 5356,
          "referenceAllele": "T",
          "start": 5355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353954.1:c.4946T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340883.1:p.Phe1649Ser",
        "hgvsWellDefined": "NP_001340883.1:p.Phe1649Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522056"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827780661",
      "coordinates": [
        {
          "allele": "C",
          "end": 5264,
          "referenceAllele": "T",
          "start": 5263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353955.1:c.4946T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340884.1:p.Phe1649Ser",
        "hgvsWellDefined": "NP_001340884.1:p.Phe1649Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522057"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827783633",
      "coordinates": [
        {
          "allele": "C",
          "end": 5216,
          "referenceAllele": "T",
          "start": 5215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353957.1:c.4898T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340886.1:p.Phe1633Ser",
        "hgvsWellDefined": "NP_001340886.1:p.Phe1633Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522058"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827786594",
      "coordinates": [
        {
          "allele": "C",
          "end": 5209,
          "referenceAllele": "T",
          "start": 5208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353958.1:c.4898T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340887.1:p.Phe1633Ser",
        "hgvsWellDefined": "NP_001340887.1:p.Phe1633Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522059"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827789564",
      "coordinates": [
        {
          "allele": "C",
          "end": 5305,
          "referenceAllele": "T",
          "start": 5304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353960.1:c.4895T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340889.1:p.Phe1632Ser",
        "hgvsWellDefined": "NP_001340889.1:p.Phe1632Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522060"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916036924",
      "coordinates": [
        {
          "allele": "C",
          "end": 5375,
          "referenceAllele": "T",
          "start": 5374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353961.1:c.2540T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340890.1:p.Phe847Ser",
        "hgvsWellDefined": "NP_001340890.1:p.Phe847Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522061"
    },
    {
      "@id": "http://reg.genome.network/allele/PA285197",
      "coordinates": [
        {
          "allele": "C",
          "end": 5446,
          "referenceAllele": "T",
          "start": 5445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.5:c.4949T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_008851.3:p.Phe1650Ser",
        "hgvsWellDefined": "NP_008851.3:p.Phe1650Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525436"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5418,
          "referenceAllele": "T",
          "start": 5417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NR_148667.1:n.5418T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531272"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5432,
          "referenceAllele": "T",
          "start": 5431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XR_001738883.1:n.5432T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589320"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5404,
          "referenceAllele": "T",
          "start": 5403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XR_001738884.1:n.5404T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589321"
    },
    {
      "@id": "http://reg.genome.network/allele/PA108106",
      "coordinates": [
        {
          "allele": "C",
          "end": 5460,
          "referenceAllele": "T",
          "start": 5459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.3:c.4982T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Phe1661Ser",
        "hgvsWellDefined": "NP_001159435.1:p.Phe1661Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678433"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826013726",
      "coordinates": [
        {
          "allele": "C",
          "end": 5289,
          "referenceAllele": "T",
          "start": 5288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165964.3:c.4898T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159436.1:p.Phe1633Ser",
        "hgvsWellDefined": "NP_001159436.1:p.Phe1633Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678434"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826260327",
      "coordinates": [
        {
          "allele": "C",
          "end": 5238,
          "referenceAllele": "T",
          "start": 5237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001202435.3:c.4982T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189364.1:p.Phe1661Ser",
        "hgvsWellDefined": "NP_001189364.1:p.Phe1661Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679700"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827754455",
      "coordinates": [
        {
          "allele": "C",
          "end": 5281,
          "referenceAllele": "T",
          "start": 5280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353948.2:c.4982T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340877.1:p.Phe1661Ser",
        "hgvsWellDefined": "NP_001340877.1:p.Phe1661Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689996"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827761013",
      "coordinates": [
        {
          "allele": "C",
          "end": 5113,
          "referenceAllele": "T",
          "start": 5112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353949.2:c.4949T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340878.1:p.Phe1650Ser",
        "hgvsWellDefined": "NP_001340878.1:p.Phe1650Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827767603",
      "coordinates": [
        {
          "allele": "C",
          "end": 5205,
          "referenceAllele": "T",
          "start": 5204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353950.2:c.4949T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340879.1:p.Phe1650Ser",
        "hgvsWellDefined": "NP_001340879.1:p.Phe1650Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689998"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827771700",
      "coordinates": [
        {
          "allele": "C",
          "end": 5248,
          "referenceAllele": "T",
          "start": 5247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353951.2:c.4949T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340880.1:p.Phe1650Ser",
        "hgvsWellDefined": "NP_001340880.1:p.Phe1650Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689999"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827774687",
      "coordinates": [
        {
          "allele": "C",
          "end": 5340,
          "referenceAllele": "T",
          "start": 5339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353952.2:c.4949T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340881.1:p.Phe1650Ser",
        "hgvsWellDefined": "NP_001340881.1:p.Phe1650Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690000"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827777675",
      "coordinates": [
        {
          "allele": "C",
          "end": 5337,
          "referenceAllele": "T",
          "start": 5336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353954.2:c.4946T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340883.1:p.Phe1649Ser",
        "hgvsWellDefined": "NP_001340883.1:p.Phe1649Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690001"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827780661",
      "coordinates": [
        {
          "allele": "C",
          "end": 5245,
          "referenceAllele": "T",
          "start": 5244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353955.2:c.4946T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340884.1:p.Phe1649Ser",
        "hgvsWellDefined": "NP_001340884.1:p.Phe1649Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690002"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827783633",
      "coordinates": [
        {
          "allele": "C",
          "end": 5197,
          "referenceAllele": "T",
          "start": 5196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353957.2:c.4898T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340886.1:p.Phe1633Ser",
        "hgvsWellDefined": "NP_001340886.1:p.Phe1633Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690003"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827786594",
      "coordinates": [
        {
          "allele": "C",
          "end": 5154,
          "referenceAllele": "T",
          "start": 5153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353958.2:c.4898T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340887.1:p.Phe1633Ser",
        "hgvsWellDefined": "NP_001340887.1:p.Phe1633Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690004"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827789564",
      "coordinates": [
        {
          "allele": "C",
          "end": 5286,
          "referenceAllele": "T",
          "start": 5285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353960.2:c.4895T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340889.1:p.Phe1632Ser",
        "hgvsWellDefined": "NP_001340889.1:p.Phe1632Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690005"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916036924",
      "coordinates": [
        {
          "allele": "C",
          "end": 5356,
          "referenceAllele": "T",
          "start": 5355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353961.2:c.2540T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340890.1:p.Phe847Ser",
        "hgvsWellDefined": "NP_001340890.1:p.Phe847Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690006"
    },
    {
      "@id": "http://reg.genome.network/allele/PA285197",
      "coordinates": [
        {
          "allele": "C",
          "end": 5427,
          "referenceAllele": "T",
          "start": 5426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.6:c.4949T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_008851.3:p.Phe1650Ser",
        "hgvsWellDefined": "NP_008851.3:p.Phe1650Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696855"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5399,
          "referenceAllele": "T",
          "start": 5398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NR_148667.2:n.5399T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704821"
    },
    {
      "@id": "http://reg.genome.network/allele/PA108106",
      "coordinates": [
        {
          "allele": "C",
          "end": 5460,
          "referenceAllele": "T",
          "start": 5459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.4:c.4982T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Phe1661Ser",
        "hgvsWellDefined": "NP_001159435.1:p.Phe1661Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713154",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674923.1:c.4982T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001165963.4:c.4982T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501589.1:p.Phe1661Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001159435.1:p.Phe1661Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}