{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA285024",
  "communityStandardTitle": [
    "NM_001165963.4(SCN1A):c.5348C>T (p.Ala1783Val)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1008712",
        "active": true,
        "id": "COSM1008712"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1153520",
        "active": true,
        "id": "COSM1153520"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4305151",
        "active": true,
        "id": "COSM4305151"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=79463[alleleid]",
        "alleleId": 79463,
        "preferredName": "NM_001165963.4(SCN1A):c.5348C>T (p.Ala1783Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/68571",
        "RCV": [
          "RCV000059446",
          "RCV000189000",
          "RCV001207693"
        ],
        "variationId": 68571
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.166848437G>A?assembly=hg19",
        "id": "chr2:g.166848437G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.165991927G>A?assembly=hg38",
        "id": "chr2:g.165991927G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121917921",
        "rs": 121917921
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 165991927,
          "referenceAllele": "G",
          "start": 165991926
        }
      ],
      "hgvs": [
        "NC_000002.12:g.165991927G>A",
        "CM000664.2:g.165991927G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 166848437,
          "referenceAllele": "G",
          "start": 166848436
        }
      ],
      "hgvs": [
        "NC_000002.11:g.166848437G>A",
        "CM000664.1:g.166848437G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 166556683,
          "referenceAllele": "G",
          "start": 166556682
        }
      ],
      "hgvs": [
        "NC_000002.10:g.166556683G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 86713,
          "referenceAllele": "C",
          "start": 86712
        }
      ],
      "hgvs": [
        "NG_011906.1:g.86713C>T",
        "LRG_8:g.86713C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002054"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5491,
          "referenceAllele": "C",
          "start": 5490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000689288.1:c.*3384C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509637.1:n.*3384C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832093"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5739,
          "referenceAllele": "C",
          "start": 5738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000303395.9:c.5348C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303540.4:p.Ala1783Val",
        "hgvsWellDefined": "ENSP00000303540.4:p.Ala1783Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745029"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5532,
          "referenceAllele": "C",
          "start": 5531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000635750.1:c.5315C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490799.1:p.Ala1772Val",
        "hgvsWellDefined": "ENSP00000490799.1:p.Ala1772Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762613"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7340,
          "referenceAllele": "C",
          "start": 7339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000635776.1:c.*2181C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490692.1:n.*2181C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762634"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5741,
          "referenceAllele": "C",
          "start": 5740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000636194.1:c.*2841C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490288.1:n.*2841C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762941"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2210,
          "referenceAllele": "C",
          "start": 2209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000637038.1:c.2210C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763565"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5795,
          "referenceAllele": "C",
          "start": 5794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000637988.1:c.5315C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490780.1:p.Ala1772Val",
        "hgvsWellDefined": "ENSP00000490780.1:p.Ala1772Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764260"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5364,
          "referenceAllele": "C",
          "start": 5363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000640036.1:c.5315C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491573.1:p.Ala1772Val",
        "hgvsWellDefined": "ENSP00000491573.1:p.Ala1772Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765301"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5588,
          "referenceAllele": "C",
          "start": 5587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000641575.1:c.5312C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492917.1:p.Ala1771Val",
        "hgvsWellDefined": "ENSP00000492917.1:p.Ala1771Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766184"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5220,
          "referenceAllele": "C",
          "start": 5219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000641603.1:c.5066C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492945.1:p.Ala1689Val",
        "hgvsWellDefined": "ENSP00000492945.1:p.Ala1689Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766204"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5617,
          "referenceAllele": "C",
          "start": 5616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000641996.1:c.*4902C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493054.1:n.*4902C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766485"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5567,
          "referenceAllele": "C",
          "start": 5566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000671940.1:c.*3291C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500336.1:n.*3291C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773217"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7821,
          "referenceAllele": "C",
          "start": 7820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000673490.1:n.7821C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773702"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5826,
          "referenceAllele": "C",
          "start": 5825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000674923.1:c.5348C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501589.1:p.Ala1783Val",
        "hgvsWellDefined": "ENSP00000501589.1:p.Ala1783Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774809",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674923.1:c.5348C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001165963.4:c.5348C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501589.1:p.Ala1783Val"
          },
          "RefSeq": {
            "hgvs": "NP_001159435.1:p.Ala1783Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5766,
          "referenceAllele": "C",
          "start": 5765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000303395.8:c.5348C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303540.4:p.Ala1783Val",
        "hgvsWellDefined": "ENSP00000303540.4:p.Ala1783Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255312"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5333,
          "referenceAllele": "C",
          "start": 5332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000375405.7:c.5315C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364554.3:p.Ala1772Val",
        "hgvsWellDefined": "ENSP00000364554.3:p.Ala1772Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270694"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5264,
          "referenceAllele": "C",
          "start": 5263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000409050.1:c.5264C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386312.1:p.Ala1755Val",
        "hgvsWellDefined": "ENSP00000386312.1:p.Ala1755Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281214"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5424,
          "referenceAllele": "C",
          "start": 5423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000423058.6:c.5348C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407030.2:p.Ala1783Val",
        "hgvsWellDefined": "ENSP00000407030.2:p.Ala1783Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287573"
    },
    {
      "@id": "http://reg.genome.network/allele/PA106985",
      "coordinates": [
        {
          "allele": "T",
          "end": 5366,
          "referenceAllele": "C",
          "start": 5365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.1:c.5348C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Ala1783Val",
        "hgvsWellDefined": "NP_001159435.1:p.Ala1783Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014743"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826013965",
      "coordinates": [
        {
          "allele": "T",
          "end": 5282,
          "referenceAllele": "C",
          "start": 5281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165964.1:c.5264C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159436.1:p.Ala1755Val",
        "hgvsWellDefined": "NP_001159436.1:p.Ala1755Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014744"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826260564",
      "coordinates": [
        {
          "allele": "T",
          "end": 5575,
          "referenceAllele": "C",
          "start": 5574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001202435.1:c.5348C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189364.1:p.Ala1783Val",
        "hgvsWellDefined": "NP_001189364.1:p.Ala1783Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017403"
    },
    {
      "@id": "http://reg.genome.network/allele/PA285026",
      "coordinates": [
        {
          "allele": "T",
          "end": 5333,
          "referenceAllele": "C",
          "start": 5332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.4:c.5315C>T",
        "LRG_8t1:c.5315C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_008851.3:p.Ala1772Val",
        "hgvsWellDefined": "NP_008851.3:p.Ala1772Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031895"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 175,
          "endIntronDirection": "-",
          "endIntronOffset": 23685,
          "referenceAllele": "G",
          "start": 175,
          "startIntronDirection": "-",
          "startIntronOffset": 23686
        }
      ],
      "hgvs": [
        "NR_110598.1:n.176-23686G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS054761"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5532,
          "referenceAllele": "C",
          "start": 5531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511598.1:c.5348C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509900.1:p.Ala1783Val",
        "hgvsWellDefined": "XP_011509900.1:p.Ala1783Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078859"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5747,
          "referenceAllele": "C",
          "start": 5746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511599.1:c.5348C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509901.1:p.Ala1783Val",
        "hgvsWellDefined": "XP_011509901.1:p.Ala1783Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078860"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5623,
          "referenceAllele": "C",
          "start": 5622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511600.1:c.5348C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509902.1:p.Ala1783Val",
        "hgvsWellDefined": "XP_011509902.1:p.Ala1783Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078861"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5742,
          "referenceAllele": "C",
          "start": 5741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511601.1:c.5348C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509903.1:p.Ala1783Val",
        "hgvsWellDefined": "XP_011509903.1:p.Ala1783Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078862"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5655,
          "referenceAllele": "C",
          "start": 5654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511602.1:c.5348C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509904.1:p.Ala1783Val",
        "hgvsWellDefined": "XP_011509904.1:p.Ala1783Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078863"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5529,
          "referenceAllele": "C",
          "start": 5528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511603.1:c.5345C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509905.1:p.Ala1782Val",
        "hgvsWellDefined": "XP_011509905.1:p.Ala1782Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078864"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5499,
          "referenceAllele": "C",
          "start": 5498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511604.1:c.5315C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509906.1:p.Ala1772Val",
        "hgvsWellDefined": "XP_011509906.1:p.Ala1772Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078865"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5496,
          "referenceAllele": "C",
          "start": 5495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511605.1:c.5312C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509907.1:p.Ala1771Val",
        "hgvsWellDefined": "XP_011509907.1:p.Ala1771Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078866"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5448,
          "referenceAllele": "C",
          "start": 5447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511606.1:c.5264C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509908.1:p.Ala1755Val",
        "hgvsWellDefined": "XP_011509908.1:p.Ala1755Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078867"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5250,
          "referenceAllele": "C",
          "start": 5249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511607.1:c.5066C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509909.1:p.Ala1689Val",
        "hgvsWellDefined": "XP_011509909.1:p.Ala1689Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078868"
    },
    {
      "@id": "http://reg.genome.network/allele/PA106985",
      "coordinates": [
        {
          "allele": "T",
          "end": 5845,
          "referenceAllele": "C",
          "start": 5844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.2:c.5348C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Ala1783Val",
        "hgvsWellDefined": "NP_001159435.1:p.Ala1783Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511667"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826013965",
      "coordinates": [
        {
          "allele": "T",
          "end": 5674,
          "referenceAllele": "C",
          "start": 5673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165964.2:c.5264C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159436.1:p.Ala1755Val",
        "hgvsWellDefined": "NP_001159436.1:p.Ala1755Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511668"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826260564",
      "coordinates": [
        {
          "allele": "T",
          "end": 5659,
          "referenceAllele": "C",
          "start": 5658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001202435.2:c.5348C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189364.1:p.Ala1783Val",
        "hgvsWellDefined": "NP_001189364.1:p.Ala1783Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511850"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827755034",
      "coordinates": [
        {
          "allele": "T",
          "end": 5666,
          "referenceAllele": "C",
          "start": 5665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353948.1:c.5348C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340877.1:p.Ala1783Val",
        "hgvsWellDefined": "NP_001340877.1:p.Ala1783Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522051"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827761560",
      "coordinates": [
        {
          "allele": "T",
          "end": 5534,
          "referenceAllele": "C",
          "start": 5533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353949.1:c.5315C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340878.1:p.Ala1772Val",
        "hgvsWellDefined": "NP_001340878.1:p.Ala1772Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522052"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827768099",
      "coordinates": [
        {
          "allele": "T",
          "end": 5626,
          "referenceAllele": "C",
          "start": 5625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353950.1:c.5315C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340879.1:p.Ala1772Val",
        "hgvsWellDefined": "NP_001340879.1:p.Ala1772Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522053"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827771936",
      "coordinates": [
        {
          "allele": "T",
          "end": 5633,
          "referenceAllele": "C",
          "start": 5632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353951.1:c.5315C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340880.1:p.Ala1772Val",
        "hgvsWellDefined": "NP_001340880.1:p.Ala1772Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522054"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827774924",
      "coordinates": [
        {
          "allele": "T",
          "end": 5725,
          "referenceAllele": "C",
          "start": 5724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353952.1:c.5315C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340881.1:p.Ala1772Val",
        "hgvsWellDefined": "NP_001340881.1:p.Ala1772Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522055"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827777913",
      "coordinates": [
        {
          "allele": "T",
          "end": 5722,
          "referenceAllele": "C",
          "start": 5721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353954.1:c.5312C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340883.1:p.Ala1771Val",
        "hgvsWellDefined": "NP_001340883.1:p.Ala1771Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522056"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827780899",
      "coordinates": [
        {
          "allele": "T",
          "end": 5630,
          "referenceAllele": "C",
          "start": 5629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353955.1:c.5312C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340884.1:p.Ala1771Val",
        "hgvsWellDefined": "NP_001340884.1:p.Ala1771Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522057"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827783869",
      "coordinates": [
        {
          "allele": "T",
          "end": 5582,
          "referenceAllele": "C",
          "start": 5581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353957.1:c.5264C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340886.1:p.Ala1755Val",
        "hgvsWellDefined": "NP_001340886.1:p.Ala1755Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522058"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827786832",
      "coordinates": [
        {
          "allele": "T",
          "end": 5575,
          "referenceAllele": "C",
          "start": 5574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353958.1:c.5264C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340887.1:p.Ala1755Val",
        "hgvsWellDefined": "NP_001340887.1:p.Ala1755Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522059"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827789803",
      "coordinates": [
        {
          "allele": "T",
          "end": 5671,
          "referenceAllele": "C",
          "start": 5670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353960.1:c.5261C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340889.1:p.Ala1754Val",
        "hgvsWellDefined": "NP_001340889.1:p.Ala1754Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522060"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916037009",
      "coordinates": [
        {
          "allele": "T",
          "end": 5741,
          "referenceAllele": "C",
          "start": 5740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353961.1:c.2906C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340890.1:p.Ala969Val",
        "hgvsWellDefined": "NP_001340890.1:p.Ala969Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522061"
    },
    {
      "@id": "http://reg.genome.network/allele/PA285026",
      "coordinates": [
        {
          "allele": "T",
          "end": 5812,
          "referenceAllele": "C",
          "start": 5811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.5:c.5315C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_008851.3:p.Ala1772Val",
        "hgvsWellDefined": "NP_008851.3:p.Ala1772Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525436"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5784,
          "referenceAllele": "C",
          "start": 5783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NR_148667.1:n.5784C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531272"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5798,
          "referenceAllele": "C",
          "start": 5797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XR_001738883.1:n.5798C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589320"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5770,
          "referenceAllele": "C",
          "start": 5769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XR_001738884.1:n.5770C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589321"
    },
    {
      "@id": "http://reg.genome.network/allele/PA106985",
      "coordinates": [
        {
          "allele": "T",
          "end": 5826,
          "referenceAllele": "C",
          "start": 5825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.3:c.5348C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Ala1783Val",
        "hgvsWellDefined": "NP_001159435.1:p.Ala1783Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678433"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826013965",
      "coordinates": [
        {
          "allele": "T",
          "end": 5655,
          "referenceAllele": "C",
          "start": 5654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165964.3:c.5264C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159436.1:p.Ala1755Val",
        "hgvsWellDefined": "NP_001159436.1:p.Ala1755Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678434"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826260564",
      "coordinates": [
        {
          "allele": "T",
          "end": 5604,
          "referenceAllele": "C",
          "start": 5603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001202435.3:c.5348C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189364.1:p.Ala1783Val",
        "hgvsWellDefined": "NP_001189364.1:p.Ala1783Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679700"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827755034",
      "coordinates": [
        {
          "allele": "T",
          "end": 5647,
          "referenceAllele": "C",
          "start": 5646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353948.2:c.5348C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340877.1:p.Ala1783Val",
        "hgvsWellDefined": "NP_001340877.1:p.Ala1783Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689996"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827761560",
      "coordinates": [
        {
          "allele": "T",
          "end": 5479,
          "referenceAllele": "C",
          "start": 5478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353949.2:c.5315C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340878.1:p.Ala1772Val",
        "hgvsWellDefined": "NP_001340878.1:p.Ala1772Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827768099",
      "coordinates": [
        {
          "allele": "T",
          "end": 5571,
          "referenceAllele": "C",
          "start": 5570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353950.2:c.5315C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340879.1:p.Ala1772Val",
        "hgvsWellDefined": "NP_001340879.1:p.Ala1772Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689998"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827771936",
      "coordinates": [
        {
          "allele": "T",
          "end": 5614,
          "referenceAllele": "C",
          "start": 5613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353951.2:c.5315C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340880.1:p.Ala1772Val",
        "hgvsWellDefined": "NP_001340880.1:p.Ala1772Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689999"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827774924",
      "coordinates": [
        {
          "allele": "T",
          "end": 5706,
          "referenceAllele": "C",
          "start": 5705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353952.2:c.5315C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340881.1:p.Ala1772Val",
        "hgvsWellDefined": "NP_001340881.1:p.Ala1772Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690000"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827777913",
      "coordinates": [
        {
          "allele": "T",
          "end": 5703,
          "referenceAllele": "C",
          "start": 5702
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353954.2:c.5312C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340883.1:p.Ala1771Val",
        "hgvsWellDefined": "NP_001340883.1:p.Ala1771Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690001"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827780899",
      "coordinates": [
        {
          "allele": "T",
          "end": 5611,
          "referenceAllele": "C",
          "start": 5610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353955.2:c.5312C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340884.1:p.Ala1771Val",
        "hgvsWellDefined": "NP_001340884.1:p.Ala1771Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690002"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827783869",
      "coordinates": [
        {
          "allele": "T",
          "end": 5563,
          "referenceAllele": "C",
          "start": 5562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353957.2:c.5264C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340886.1:p.Ala1755Val",
        "hgvsWellDefined": "NP_001340886.1:p.Ala1755Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690003"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827786832",
      "coordinates": [
        {
          "allele": "T",
          "end": 5520,
          "referenceAllele": "C",
          "start": 5519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353958.2:c.5264C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340887.1:p.Ala1755Val",
        "hgvsWellDefined": "NP_001340887.1:p.Ala1755Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690004"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827789803",
      "coordinates": [
        {
          "allele": "T",
          "end": 5652,
          "referenceAllele": "C",
          "start": 5651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353960.2:c.5261C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340889.1:p.Ala1754Val",
        "hgvsWellDefined": "NP_001340889.1:p.Ala1754Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690005"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916037009",
      "coordinates": [
        {
          "allele": "T",
          "end": 5722,
          "referenceAllele": "C",
          "start": 5721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353961.2:c.2906C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340890.1:p.Ala969Val",
        "hgvsWellDefined": "NP_001340890.1:p.Ala969Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690006"
    },
    {
      "@id": "http://reg.genome.network/allele/PA285026",
      "coordinates": [
        {
          "allele": "T",
          "end": 5793,
          "referenceAllele": "C",
          "start": 5792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.6:c.5315C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_008851.3:p.Ala1772Val",
        "hgvsWellDefined": "NP_008851.3:p.Ala1772Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696855"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5765,
          "referenceAllele": "C",
          "start": 5764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NR_148667.2:n.5765C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704821"
    },
    {
      "@id": "http://reg.genome.network/allele/PA106985",
      "coordinates": [
        {
          "allele": "T",
          "end": 5826,
          "referenceAllele": "C",
          "start": 5825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.4:c.5348C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Ala1783Val",
        "hgvsWellDefined": "NP_001159435.1:p.Ala1783Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713154",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674923.1:c.5348C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001165963.4:c.5348C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501589.1:p.Ala1783Val"
          },
          "RefSeq": {
            "hgvs": "NP_001159435.1:p.Ala1783Val"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}