{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA317581",
  "communityStandardTitle": [
    "NM_001165963.4(SCN1A):c.5162C>A (p.Thr1721Lys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=201453[alleleid]",
        "alleleId": 201453,
        "preferredName": "NM_001165963.4(SCN1A):c.5162C>A (p.Thr1721Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/206859",
        "RCV": [
          "RCV000188993"
        ],
        "variationId": 206859
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.166848623G>T?assembly=hg19",
        "id": "chr2:g.166848623G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.165992113G>T?assembly=hg38",
        "id": "chr2:g.165992113G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121917978",
        "rs": 121917978
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 165992113,
          "referenceAllele": "G",
          "start": 165992112
        }
      ],
      "hgvs": [
        "NC_000002.12:g.165992113G>T",
        "CM000664.2:g.165992113G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 166848623,
          "referenceAllele": "G",
          "start": 166848622
        }
      ],
      "hgvs": [
        "NC_000002.11:g.166848623G>T",
        "CM000664.1:g.166848623G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 166556869,
          "referenceAllele": "G",
          "start": 166556868
        }
      ],
      "hgvs": [
        "NC_000002.10:g.166556869G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 86527,
          "referenceAllele": "C",
          "start": 86526
        }
      ],
      "hgvs": [
        "NG_011906.1:g.86527C>A",
        "LRG_8:g.86527C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002054"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5305,
          "referenceAllele": "C",
          "start": 5304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000689288.1:c.*3198C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509637.1:n.*3198C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832093"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5553,
          "referenceAllele": "C",
          "start": 5552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000303395.9:c.5162C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303540.4:p.Thr1721Lys",
        "hgvsWellDefined": "ENSP00000303540.4:p.Thr1721Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745029"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5346,
          "referenceAllele": "C",
          "start": 5345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000635750.1:c.5129C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490799.1:p.Thr1710Lys",
        "hgvsWellDefined": "ENSP00000490799.1:p.Thr1710Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762613"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7154,
          "referenceAllele": "C",
          "start": 7153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000635776.1:c.*1995C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490692.1:n.*1995C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762634"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5555,
          "referenceAllele": "C",
          "start": 5554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000636194.1:c.*2655C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490288.1:n.*2655C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762941"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2024,
          "referenceAllele": "C",
          "start": 2023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000637038.1:c.2024C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763565"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5609,
          "referenceAllele": "C",
          "start": 5608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000637988.1:c.5129C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490780.1:p.Thr1710Lys",
        "hgvsWellDefined": "ENSP00000490780.1:p.Thr1710Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764260"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5178,
          "referenceAllele": "C",
          "start": 5177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000640036.1:c.5129C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491573.1:p.Thr1710Lys",
        "hgvsWellDefined": "ENSP00000491573.1:p.Thr1710Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765301"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5402,
          "referenceAllele": "C",
          "start": 5401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000641575.1:c.5126C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492917.1:p.Thr1709Lys",
        "hgvsWellDefined": "ENSP00000492917.1:p.Thr1709Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766184"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5034,
          "referenceAllele": "C",
          "start": 5033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000641603.1:c.4880C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492945.1:p.Thr1627Lys",
        "hgvsWellDefined": "ENSP00000492945.1:p.Thr1627Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766204"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5431,
          "referenceAllele": "C",
          "start": 5430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000641996.1:c.*4716C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493054.1:n.*4716C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766485"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5381,
          "referenceAllele": "C",
          "start": 5380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000671940.1:c.*3105C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500336.1:n.*3105C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773217"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7635,
          "referenceAllele": "C",
          "start": 7634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000673490.1:n.7635C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773702"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5640,
          "referenceAllele": "C",
          "start": 5639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000674923.1:c.5162C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501589.1:p.Thr1721Lys",
        "hgvsWellDefined": "ENSP00000501589.1:p.Thr1721Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774809",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674923.1:c.5162C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001165963.4:c.5162C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501589.1:p.Thr1721Lys"
          },
          "RefSeq": {
            "hgvs": "NP_001159435.1:p.Thr1721Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5580,
          "referenceAllele": "C",
          "start": 5579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000303395.8:c.5162C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303540.4:p.Thr1721Lys",
        "hgvsWellDefined": "ENSP00000303540.4:p.Thr1721Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255312"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5147,
          "referenceAllele": "C",
          "start": 5146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000375405.7:c.5129C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364554.3:p.Thr1710Lys",
        "hgvsWellDefined": "ENSP00000364554.3:p.Thr1710Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270694"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5078,
          "referenceAllele": "C",
          "start": 5077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000409050.1:c.5078C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386312.1:p.Thr1693Lys",
        "hgvsWellDefined": "ENSP00000386312.1:p.Thr1693Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281214"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5238,
          "referenceAllele": "C",
          "start": 5237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000423058.6:c.5162C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407030.2:p.Thr1721Lys",
        "hgvsWellDefined": "ENSP00000407030.2:p.Thr1721Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287573"
    },
    {
      "@id": "http://reg.genome.network/allele/PA317584",
      "coordinates": [
        {
          "allele": "A",
          "end": 5180,
          "referenceAllele": "C",
          "start": 5179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.1:c.5162C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Thr1721Lys",
        "hgvsWellDefined": "NP_001159435.1:p.Thr1721Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014743"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826013847",
      "coordinates": [
        {
          "allele": "A",
          "end": 5096,
          "referenceAllele": "C",
          "start": 5095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165964.1:c.5078C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159436.1:p.Thr1693Lys",
        "hgvsWellDefined": "NP_001159436.1:p.Thr1693Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014744"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826260446",
      "coordinates": [
        {
          "allele": "A",
          "end": 5389,
          "referenceAllele": "C",
          "start": 5388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001202435.1:c.5162C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189364.1:p.Thr1721Lys",
        "hgvsWellDefined": "NP_001189364.1:p.Thr1721Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017403"
    },
    {
      "@id": "http://reg.genome.network/allele/PA317583",
      "coordinates": [
        {
          "allele": "A",
          "end": 5147,
          "referenceAllele": "C",
          "start": 5146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.4:c.5129C>A",
        "LRG_8t1:c.5129C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_008851.3:p.Thr1710Lys",
        "hgvsWellDefined": "NP_008851.3:p.Thr1710Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031895"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 175,
          "endIntronDirection": "-",
          "endIntronOffset": 23499,
          "referenceAllele": "G",
          "start": 175,
          "startIntronDirection": "-",
          "startIntronOffset": 23500
        }
      ],
      "hgvs": [
        "NR_110598.1:n.176-23500G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS054761"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5346,
          "referenceAllele": "C",
          "start": 5345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511598.1:c.5162C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509900.1:p.Thr1721Lys",
        "hgvsWellDefined": "XP_011509900.1:p.Thr1721Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078859"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5561,
          "referenceAllele": "C",
          "start": 5560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511599.1:c.5162C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509901.1:p.Thr1721Lys",
        "hgvsWellDefined": "XP_011509901.1:p.Thr1721Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078860"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5437,
          "referenceAllele": "C",
          "start": 5436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511600.1:c.5162C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509902.1:p.Thr1721Lys",
        "hgvsWellDefined": "XP_011509902.1:p.Thr1721Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078861"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5556,
          "referenceAllele": "C",
          "start": 5555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511601.1:c.5162C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509903.1:p.Thr1721Lys",
        "hgvsWellDefined": "XP_011509903.1:p.Thr1721Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078862"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5469,
          "referenceAllele": "C",
          "start": 5468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511602.1:c.5162C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509904.1:p.Thr1721Lys",
        "hgvsWellDefined": "XP_011509904.1:p.Thr1721Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078863"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5343,
          "referenceAllele": "C",
          "start": 5342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511603.1:c.5159C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509905.1:p.Thr1720Lys",
        "hgvsWellDefined": "XP_011509905.1:p.Thr1720Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078864"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5313,
          "referenceAllele": "C",
          "start": 5312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511604.1:c.5129C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509906.1:p.Thr1710Lys",
        "hgvsWellDefined": "XP_011509906.1:p.Thr1710Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078865"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5310,
          "referenceAllele": "C",
          "start": 5309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511605.1:c.5126C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509907.1:p.Thr1709Lys",
        "hgvsWellDefined": "XP_011509907.1:p.Thr1709Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078866"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5262,
          "referenceAllele": "C",
          "start": 5261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511606.1:c.5078C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509908.1:p.Thr1693Lys",
        "hgvsWellDefined": "XP_011509908.1:p.Thr1693Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078867"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5064,
          "referenceAllele": "C",
          "start": 5063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511607.1:c.4880C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509909.1:p.Thr1627Lys",
        "hgvsWellDefined": "XP_011509909.1:p.Thr1627Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078868"
    },
    {
      "@id": "http://reg.genome.network/allele/PA317584",
      "coordinates": [
        {
          "allele": "A",
          "end": 5659,
          "referenceAllele": "C",
          "start": 5658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.2:c.5162C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Thr1721Lys",
        "hgvsWellDefined": "NP_001159435.1:p.Thr1721Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511667"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826013847",
      "coordinates": [
        {
          "allele": "A",
          "end": 5488,
          "referenceAllele": "C",
          "start": 5487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165964.2:c.5078C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159436.1:p.Thr1693Lys",
        "hgvsWellDefined": "NP_001159436.1:p.Thr1693Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511668"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826260446",
      "coordinates": [
        {
          "allele": "A",
          "end": 5473,
          "referenceAllele": "C",
          "start": 5472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001202435.2:c.5162C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189364.1:p.Thr1721Lys",
        "hgvsWellDefined": "NP_001189364.1:p.Thr1721Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511850"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827754760",
      "coordinates": [
        {
          "allele": "A",
          "end": 5480,
          "referenceAllele": "C",
          "start": 5479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353948.1:c.5162C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340877.1:p.Thr1721Lys",
        "hgvsWellDefined": "NP_001340877.1:p.Thr1721Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522051"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827761293",
      "coordinates": [
        {
          "allele": "A",
          "end": 5348,
          "referenceAllele": "C",
          "start": 5347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353949.1:c.5129C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340878.1:p.Thr1710Lys",
        "hgvsWellDefined": "NP_001340878.1:p.Thr1710Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522052"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827767836",
      "coordinates": [
        {
          "allele": "A",
          "end": 5440,
          "referenceAllele": "C",
          "start": 5439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353950.1:c.5129C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340879.1:p.Thr1710Lys",
        "hgvsWellDefined": "NP_001340879.1:p.Thr1710Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522053"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827771818",
      "coordinates": [
        {
          "allele": "A",
          "end": 5447,
          "referenceAllele": "C",
          "start": 5446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353951.1:c.5129C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340880.1:p.Thr1710Lys",
        "hgvsWellDefined": "NP_001340880.1:p.Thr1710Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522054"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827774807",
      "coordinates": [
        {
          "allele": "A",
          "end": 5539,
          "referenceAllele": "C",
          "start": 5538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353952.1:c.5129C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340881.1:p.Thr1710Lys",
        "hgvsWellDefined": "NP_001340881.1:p.Thr1710Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522055"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827777793",
      "coordinates": [
        {
          "allele": "A",
          "end": 5536,
          "referenceAllele": "C",
          "start": 5535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353954.1:c.5126C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340883.1:p.Thr1709Lys",
        "hgvsWellDefined": "NP_001340883.1:p.Thr1709Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522056"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827780779",
      "coordinates": [
        {
          "allele": "A",
          "end": 5444,
          "referenceAllele": "C",
          "start": 5443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353955.1:c.5126C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340884.1:p.Thr1709Lys",
        "hgvsWellDefined": "NP_001340884.1:p.Thr1709Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522057"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827783753",
      "coordinates": [
        {
          "allele": "A",
          "end": 5396,
          "referenceAllele": "C",
          "start": 5395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353957.1:c.5078C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340886.1:p.Thr1693Lys",
        "hgvsWellDefined": "NP_001340886.1:p.Thr1693Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522058"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827786714",
      "coordinates": [
        {
          "allele": "A",
          "end": 5389,
          "referenceAllele": "C",
          "start": 5388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353958.1:c.5078C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340887.1:p.Thr1693Lys",
        "hgvsWellDefined": "NP_001340887.1:p.Thr1693Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522059"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827789683",
      "coordinates": [
        {
          "allele": "A",
          "end": 5485,
          "referenceAllele": "C",
          "start": 5484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353960.1:c.5075C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340889.1:p.Thr1692Lys",
        "hgvsWellDefined": "NP_001340889.1:p.Thr1692Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522060"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916036967",
      "coordinates": [
        {
          "allele": "A",
          "end": 5555,
          "referenceAllele": "C",
          "start": 5554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353961.1:c.2720C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340890.1:p.Thr907Lys",
        "hgvsWellDefined": "NP_001340890.1:p.Thr907Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522061"
    },
    {
      "@id": "http://reg.genome.network/allele/PA317583",
      "coordinates": [
        {
          "allele": "A",
          "end": 5626,
          "referenceAllele": "C",
          "start": 5625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.5:c.5129C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_008851.3:p.Thr1710Lys",
        "hgvsWellDefined": "NP_008851.3:p.Thr1710Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525436"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5598,
          "referenceAllele": "C",
          "start": 5597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NR_148667.1:n.5598C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531272"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5612,
          "referenceAllele": "C",
          "start": 5611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XR_001738883.1:n.5612C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589320"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5584,
          "referenceAllele": "C",
          "start": 5583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XR_001738884.1:n.5584C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589321"
    },
    {
      "@id": "http://reg.genome.network/allele/PA317584",
      "coordinates": [
        {
          "allele": "A",
          "end": 5640,
          "referenceAllele": "C",
          "start": 5639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.3:c.5162C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Thr1721Lys",
        "hgvsWellDefined": "NP_001159435.1:p.Thr1721Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678433"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826013847",
      "coordinates": [
        {
          "allele": "A",
          "end": 5469,
          "referenceAllele": "C",
          "start": 5468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165964.3:c.5078C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159436.1:p.Thr1693Lys",
        "hgvsWellDefined": "NP_001159436.1:p.Thr1693Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678434"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826260446",
      "coordinates": [
        {
          "allele": "A",
          "end": 5418,
          "referenceAllele": "C",
          "start": 5417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001202435.3:c.5162C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189364.1:p.Thr1721Lys",
        "hgvsWellDefined": "NP_001189364.1:p.Thr1721Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679700"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827754760",
      "coordinates": [
        {
          "allele": "A",
          "end": 5461,
          "referenceAllele": "C",
          "start": 5460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353948.2:c.5162C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340877.1:p.Thr1721Lys",
        "hgvsWellDefined": "NP_001340877.1:p.Thr1721Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689996"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827761293",
      "coordinates": [
        {
          "allele": "A",
          "end": 5293,
          "referenceAllele": "C",
          "start": 5292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353949.2:c.5129C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340878.1:p.Thr1710Lys",
        "hgvsWellDefined": "NP_001340878.1:p.Thr1710Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827767836",
      "coordinates": [
        {
          "allele": "A",
          "end": 5385,
          "referenceAllele": "C",
          "start": 5384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353950.2:c.5129C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340879.1:p.Thr1710Lys",
        "hgvsWellDefined": "NP_001340879.1:p.Thr1710Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689998"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827771818",
      "coordinates": [
        {
          "allele": "A",
          "end": 5428,
          "referenceAllele": "C",
          "start": 5427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353951.2:c.5129C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340880.1:p.Thr1710Lys",
        "hgvsWellDefined": "NP_001340880.1:p.Thr1710Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689999"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827774807",
      "coordinates": [
        {
          "allele": "A",
          "end": 5520,
          "referenceAllele": "C",
          "start": 5519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353952.2:c.5129C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340881.1:p.Thr1710Lys",
        "hgvsWellDefined": "NP_001340881.1:p.Thr1710Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690000"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827777793",
      "coordinates": [
        {
          "allele": "A",
          "end": 5517,
          "referenceAllele": "C",
          "start": 5516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353954.2:c.5126C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340883.1:p.Thr1709Lys",
        "hgvsWellDefined": "NP_001340883.1:p.Thr1709Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690001"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827780779",
      "coordinates": [
        {
          "allele": "A",
          "end": 5425,
          "referenceAllele": "C",
          "start": 5424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353955.2:c.5126C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340884.1:p.Thr1709Lys",
        "hgvsWellDefined": "NP_001340884.1:p.Thr1709Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690002"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827783753",
      "coordinates": [
        {
          "allele": "A",
          "end": 5377,
          "referenceAllele": "C",
          "start": 5376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353957.2:c.5078C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340886.1:p.Thr1693Lys",
        "hgvsWellDefined": "NP_001340886.1:p.Thr1693Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690003"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827786714",
      "coordinates": [
        {
          "allele": "A",
          "end": 5334,
          "referenceAllele": "C",
          "start": 5333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353958.2:c.5078C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340887.1:p.Thr1693Lys",
        "hgvsWellDefined": "NP_001340887.1:p.Thr1693Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690004"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827789683",
      "coordinates": [
        {
          "allele": "A",
          "end": 5466,
          "referenceAllele": "C",
          "start": 5465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353960.2:c.5075C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340889.1:p.Thr1692Lys",
        "hgvsWellDefined": "NP_001340889.1:p.Thr1692Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690005"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916036967",
      "coordinates": [
        {
          "allele": "A",
          "end": 5536,
          "referenceAllele": "C",
          "start": 5535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353961.2:c.2720C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340890.1:p.Thr907Lys",
        "hgvsWellDefined": "NP_001340890.1:p.Thr907Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690006"
    },
    {
      "@id": "http://reg.genome.network/allele/PA317583",
      "coordinates": [
        {
          "allele": "A",
          "end": 5607,
          "referenceAllele": "C",
          "start": 5606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.6:c.5129C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_008851.3:p.Thr1710Lys",
        "hgvsWellDefined": "NP_008851.3:p.Thr1710Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696855"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5579,
          "referenceAllele": "C",
          "start": 5578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NR_148667.2:n.5579C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704821"
    },
    {
      "@id": "http://reg.genome.network/allele/PA317584",
      "coordinates": [
        {
          "allele": "A",
          "end": 5640,
          "referenceAllele": "C",
          "start": 5639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.4:c.5162C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Thr1721Lys",
        "hgvsWellDefined": "NP_001159435.1:p.Thr1721Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713154",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674923.1:c.5162C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001165963.4:c.5162C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501589.1:p.Thr1721Lys"
          },
          "RefSeq": {
            "hgvs": "NP_001159435.1:p.Thr1721Lys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}