{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA285135",
  "communityStandardTitle": [
    "NM_001165963.4(SCN1A):c.3693T>A (p.Ser1231Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=79511[alleleid]",
        "alleleId": 79511,
        "preferredName": "NM_001165963.4(SCN1A):c.3693T>A (p.Ser1231Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/68619",
        "RCV": [
          "RCV000059496"
        ],
        "variationId": 68619
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.166870266A>T?assembly=hg19",
        "id": "chr2:g.166870266A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.166013756A>T?assembly=hg38",
        "id": "chr2:g.166013756A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121918746",
        "rs": 121918746
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 166013756,
          "referenceAllele": "A",
          "start": 166013755
        }
      ],
      "hgvs": [
        "NC_000002.12:g.166013756A>T",
        "CM000664.2:g.166013756A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 166870266,
          "referenceAllele": "A",
          "start": 166870265
        }
      ],
      "hgvs": [
        "NC_000002.11:g.166870266A>T",
        "CM000664.1:g.166870266A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 166578512,
          "referenceAllele": "A",
          "start": 166578511
        }
      ],
      "hgvs": [
        "NC_000002.10:g.166578512A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 64884,
          "referenceAllele": "T",
          "start": 64883
        }
      ],
      "hgvs": [
        "NG_011906.1:g.64884T>A",
        "LRG_8:g.64884T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002054"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3836,
          "referenceAllele": "T",
          "start": 3835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000689288.1:c.*1729T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509637.1:n.*1729T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832093"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4084,
          "referenceAllele": "T",
          "start": 4083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000303395.9:c.3693T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303540.4:p.Ser1231Arg",
        "hgvsWellDefined": "ENSP00000303540.4:p.Ser1231Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745029"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3877,
          "referenceAllele": "T",
          "start": 3876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000635750.1:c.3660T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490799.1:p.Ser1220Arg",
        "hgvsWellDefined": "ENSP00000490799.1:p.Ser1220Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762613"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3962,
          "referenceAllele": "T",
          "start": 3961
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000635776.1:c.3660T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490692.1:p.Ser1220Arg",
        "hgvsWellDefined": "ENSP00000490692.1:p.Ser1220Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762634"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4086,
          "referenceAllele": "T",
          "start": 4085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000636194.1:c.*1186T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490288.1:n.*1186T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762941"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 491,
          "referenceAllele": "T",
          "start": 490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000637038.1:c.491T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763565"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3945,
          "referenceAllele": "T",
          "start": 3944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000637968.1:n.3945T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764246"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4140,
          "referenceAllele": "T",
          "start": 4139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000637988.1:c.3660T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490780.1:p.Ser1220Arg",
        "hgvsWellDefined": "ENSP00000490780.1:p.Ser1220Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764260"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3709,
          "referenceAllele": "T",
          "start": 3708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000640036.1:c.3660T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491573.1:p.Ser1220Arg",
        "hgvsWellDefined": "ENSP00000491573.1:p.Ser1220Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765301"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3933,
          "referenceAllele": "T",
          "start": 3932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000641575.1:c.3657T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492917.1:p.Ser1219Arg",
        "hgvsWellDefined": "ENSP00000492917.1:p.Ser1219Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766184"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3847,
          "referenceAllele": "T",
          "start": 3846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000641603.1:c.3693T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492945.1:p.Ser1231Arg",
        "hgvsWellDefined": "ENSP00000492945.1:p.Ser1231Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766204"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3962,
          "referenceAllele": "T",
          "start": 3961
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000641996.1:c.*3247T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493054.1:n.*3247T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766485"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3912,
          "referenceAllele": "T",
          "start": 3911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000671940.1:c.*1636T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500336.1:n.*1636T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773217"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6166,
          "referenceAllele": "T",
          "start": 6165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000673490.1:n.6166T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773702"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4171,
          "referenceAllele": "T",
          "start": 4170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000674923.1:c.3693T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501589.1:p.Ser1231Arg",
        "hgvsWellDefined": "ENSP00000501589.1:p.Ser1231Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774809",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674923.1:c.3693T>A"
          },
          "RefSeq": {
            "hgvs": "NM_001165963.4:c.3693T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501589.1:p.Ser1231Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001159435.1:p.Ser1231Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4111,
          "referenceAllele": "T",
          "start": 4110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000303395.8:c.3693T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303540.4:p.Ser1231Arg",
        "hgvsWellDefined": "ENSP00000303540.4:p.Ser1231Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255312"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3678,
          "referenceAllele": "T",
          "start": 3677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000375405.7:c.3660T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364554.3:p.Ser1220Arg",
        "hgvsWellDefined": "ENSP00000364554.3:p.Ser1220Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270694"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3609,
          "referenceAllele": "T",
          "start": 3608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000409050.1:c.3609T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386312.1:p.Ser1203Arg",
        "hgvsWellDefined": "ENSP00000386312.1:p.Ser1203Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281214"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3769,
          "referenceAllele": "T",
          "start": 3768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000423058.6:c.3693T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407030.2:p.Ser1231Arg",
        "hgvsWellDefined": "ENSP00000407030.2:p.Ser1231Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287573"
    },
    {
      "@id": "http://reg.genome.network/allele/PA108264",
      "coordinates": [
        {
          "allele": "A",
          "end": 3711,
          "referenceAllele": "T",
          "start": 3710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.1:c.3693T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Ser1231Arg",
        "hgvsWellDefined": "NP_001159435.1:p.Ser1231Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014743"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826012987",
      "coordinates": [
        {
          "allele": "A",
          "end": 3627,
          "referenceAllele": "T",
          "start": 3626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165964.1:c.3609T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159436.1:p.Ser1203Arg",
        "hgvsWellDefined": "NP_001159436.1:p.Ser1203Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014744"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826259593",
      "coordinates": [
        {
          "allele": "A",
          "end": 3920,
          "referenceAllele": "T",
          "start": 3919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001202435.1:c.3693T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189364.1:p.Ser1231Arg",
        "hgvsWellDefined": "NP_001189364.1:p.Ser1231Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017403"
    },
    {
      "@id": "http://reg.genome.network/allele/PA285137",
      "coordinates": [
        {
          "allele": "A",
          "end": 3678,
          "referenceAllele": "T",
          "start": 3677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.4:c.3660T>A",
        "LRG_8t1:c.3660T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_008851.3:p.Ser1220Arg",
        "hgvsWellDefined": "NP_008851.3:p.Ser1220Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031895"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 175,
          "endIntronDirection": "-",
          "endIntronOffset": 1856,
          "referenceAllele": "A",
          "start": 175,
          "startIntronDirection": "-",
          "startIntronOffset": 1857
        }
      ],
      "hgvs": [
        "NR_110598.1:n.176-1857A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS054761"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3877,
          "referenceAllele": "T",
          "start": 3876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511598.1:c.3693T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509900.1:p.Ser1231Arg",
        "hgvsWellDefined": "XP_011509900.1:p.Ser1231Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078859"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4092,
          "referenceAllele": "T",
          "start": 4091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511599.1:c.3693T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509901.1:p.Ser1231Arg",
        "hgvsWellDefined": "XP_011509901.1:p.Ser1231Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078860"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3968,
          "referenceAllele": "T",
          "start": 3967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511600.1:c.3693T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509902.1:p.Ser1231Arg",
        "hgvsWellDefined": "XP_011509902.1:p.Ser1231Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078861"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4087,
          "referenceAllele": "T",
          "start": 4086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511601.1:c.3693T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509903.1:p.Ser1231Arg",
        "hgvsWellDefined": "XP_011509903.1:p.Ser1231Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078862"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4000,
          "referenceAllele": "T",
          "start": 3999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511602.1:c.3693T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509904.1:p.Ser1231Arg",
        "hgvsWellDefined": "XP_011509904.1:p.Ser1231Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078863"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3874,
          "referenceAllele": "T",
          "start": 3873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511603.1:c.3690T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509905.1:p.Ser1230Arg",
        "hgvsWellDefined": "XP_011509905.1:p.Ser1230Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078864"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3844,
          "referenceAllele": "T",
          "start": 3843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511604.1:c.3660T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509906.1:p.Ser1220Arg",
        "hgvsWellDefined": "XP_011509906.1:p.Ser1220Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078865"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3841,
          "referenceAllele": "T",
          "start": 3840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511605.1:c.3657T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509907.1:p.Ser1219Arg",
        "hgvsWellDefined": "XP_011509907.1:p.Ser1219Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078866"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3793,
          "referenceAllele": "T",
          "start": 3792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511606.1:c.3609T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509908.1:p.Ser1203Arg",
        "hgvsWellDefined": "XP_011509908.1:p.Ser1203Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078867"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3877,
          "referenceAllele": "T",
          "start": 3876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511607.1:c.3693T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509909.1:p.Ser1231Arg",
        "hgvsWellDefined": "XP_011509909.1:p.Ser1231Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078868"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3877,
          "referenceAllele": "T",
          "start": 3876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XR_922981.1:n.3877T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS120043"
    },
    {
      "@id": "http://reg.genome.network/allele/PA108264",
      "coordinates": [
        {
          "allele": "A",
          "end": 4190,
          "referenceAllele": "T",
          "start": 4189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.2:c.3693T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Ser1231Arg",
        "hgvsWellDefined": "NP_001159435.1:p.Ser1231Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511667"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826012987",
      "coordinates": [
        {
          "allele": "A",
          "end": 4019,
          "referenceAllele": "T",
          "start": 4018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165964.2:c.3609T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159436.1:p.Ser1203Arg",
        "hgvsWellDefined": "NP_001159436.1:p.Ser1203Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511668"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826259593",
      "coordinates": [
        {
          "allele": "A",
          "end": 4004,
          "referenceAllele": "T",
          "start": 4003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001202435.2:c.3693T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189364.1:p.Ser1231Arg",
        "hgvsWellDefined": "NP_001189364.1:p.Ser1231Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511850"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827752753",
      "coordinates": [
        {
          "allele": "A",
          "end": 4011,
          "referenceAllele": "T",
          "start": 4010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353948.1:c.3693T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340877.1:p.Ser1231Arg",
        "hgvsWellDefined": "NP_001340877.1:p.Ser1231Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522051"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827759387",
      "coordinates": [
        {
          "allele": "A",
          "end": 3879,
          "referenceAllele": "T",
          "start": 3878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353949.1:c.3660T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340878.1:p.Ser1220Arg",
        "hgvsWellDefined": "NP_001340878.1:p.Ser1220Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522052"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827765995",
      "coordinates": [
        {
          "allele": "A",
          "end": 3971,
          "referenceAllele": "T",
          "start": 3970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353950.1:c.3660T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340879.1:p.Ser1220Arg",
        "hgvsWellDefined": "NP_001340879.1:p.Ser1220Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522053"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827770964",
      "coordinates": [
        {
          "allele": "A",
          "end": 3978,
          "referenceAllele": "T",
          "start": 3977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353951.1:c.3660T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340880.1:p.Ser1220Arg",
        "hgvsWellDefined": "NP_001340880.1:p.Ser1220Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522054"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827773949",
      "coordinates": [
        {
          "allele": "A",
          "end": 4070,
          "referenceAllele": "T",
          "start": 4069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353952.1:c.3660T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340881.1:p.Ser1220Arg",
        "hgvsWellDefined": "NP_001340881.1:p.Ser1220Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522055"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827776936",
      "coordinates": [
        {
          "allele": "A",
          "end": 4067,
          "referenceAllele": "T",
          "start": 4066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353954.1:c.3657T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340883.1:p.Ser1219Arg",
        "hgvsWellDefined": "NP_001340883.1:p.Ser1219Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522056"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827779925",
      "coordinates": [
        {
          "allele": "A",
          "end": 3975,
          "referenceAllele": "T",
          "start": 3974
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353955.1:c.3657T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340884.1:p.Ser1219Arg",
        "hgvsWellDefined": "NP_001340884.1:p.Ser1219Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522057"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827782896",
      "coordinates": [
        {
          "allele": "A",
          "end": 3927,
          "referenceAllele": "T",
          "start": 3926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353957.1:c.3609T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340886.1:p.Ser1203Arg",
        "hgvsWellDefined": "NP_001340886.1:p.Ser1203Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522058"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827785854",
      "coordinates": [
        {
          "allele": "A",
          "end": 3920,
          "referenceAllele": "T",
          "start": 3919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353958.1:c.3609T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340887.1:p.Ser1203Arg",
        "hgvsWellDefined": "NP_001340887.1:p.Ser1203Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522059"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827788828",
      "coordinates": [
        {
          "allele": "A",
          "end": 4016,
          "referenceAllele": "T",
          "start": 4015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353960.1:c.3606T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340889.1:p.Ser1202Arg",
        "hgvsWellDefined": "NP_001340889.1:p.Ser1202Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522060"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916036662",
      "coordinates": [
        {
          "allele": "A",
          "end": 4086,
          "referenceAllele": "T",
          "start": 4085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353961.1:c.1251T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340890.1:p.Ser417Arg",
        "hgvsWellDefined": "NP_001340890.1:p.Ser417Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522061"
    },
    {
      "@id": "http://reg.genome.network/allele/PA285137",
      "coordinates": [
        {
          "allele": "A",
          "end": 4157,
          "referenceAllele": "T",
          "start": 4156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.5:c.3660T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_008851.3:p.Ser1220Arg",
        "hgvsWellDefined": "NP_008851.3:p.Ser1220Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525436"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4065,
          "referenceAllele": "T",
          "start": 4064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NR_148667.1:n.4065T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531272"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4079,
          "referenceAllele": "T",
          "start": 4078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XR_001738883.1:n.4079T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589320"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4051,
          "referenceAllele": "T",
          "start": 4050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XR_001738884.1:n.4051T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589321"
    },
    {
      "@id": "http://reg.genome.network/allele/PA108264",
      "coordinates": [
        {
          "allele": "A",
          "end": 4171,
          "referenceAllele": "T",
          "start": 4170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.3:c.3693T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Ser1231Arg",
        "hgvsWellDefined": "NP_001159435.1:p.Ser1231Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678433"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826012987",
      "coordinates": [
        {
          "allele": "A",
          "end": 4000,
          "referenceAllele": "T",
          "start": 3999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165964.3:c.3609T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159436.1:p.Ser1203Arg",
        "hgvsWellDefined": "NP_001159436.1:p.Ser1203Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678434"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826259593",
      "coordinates": [
        {
          "allele": "A",
          "end": 3949,
          "referenceAllele": "T",
          "start": 3948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001202435.3:c.3693T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189364.1:p.Ser1231Arg",
        "hgvsWellDefined": "NP_001189364.1:p.Ser1231Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679700"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827752753",
      "coordinates": [
        {
          "allele": "A",
          "end": 3992,
          "referenceAllele": "T",
          "start": 3991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353948.2:c.3693T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340877.1:p.Ser1231Arg",
        "hgvsWellDefined": "NP_001340877.1:p.Ser1231Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689996"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827759387",
      "coordinates": [
        {
          "allele": "A",
          "end": 3824,
          "referenceAllele": "T",
          "start": 3823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353949.2:c.3660T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340878.1:p.Ser1220Arg",
        "hgvsWellDefined": "NP_001340878.1:p.Ser1220Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827765995",
      "coordinates": [
        {
          "allele": "A",
          "end": 3916,
          "referenceAllele": "T",
          "start": 3915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353950.2:c.3660T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340879.1:p.Ser1220Arg",
        "hgvsWellDefined": "NP_001340879.1:p.Ser1220Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689998"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827770964",
      "coordinates": [
        {
          "allele": "A",
          "end": 3959,
          "referenceAllele": "T",
          "start": 3958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353951.2:c.3660T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340880.1:p.Ser1220Arg",
        "hgvsWellDefined": "NP_001340880.1:p.Ser1220Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689999"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827773949",
      "coordinates": [
        {
          "allele": "A",
          "end": 4051,
          "referenceAllele": "T",
          "start": 4050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353952.2:c.3660T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340881.1:p.Ser1220Arg",
        "hgvsWellDefined": "NP_001340881.1:p.Ser1220Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690000"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827776936",
      "coordinates": [
        {
          "allele": "A",
          "end": 4048,
          "referenceAllele": "T",
          "start": 4047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353954.2:c.3657T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340883.1:p.Ser1219Arg",
        "hgvsWellDefined": "NP_001340883.1:p.Ser1219Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690001"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827779925",
      "coordinates": [
        {
          "allele": "A",
          "end": 3956,
          "referenceAllele": "T",
          "start": 3955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353955.2:c.3657T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340884.1:p.Ser1219Arg",
        "hgvsWellDefined": "NP_001340884.1:p.Ser1219Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690002"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827782896",
      "coordinates": [
        {
          "allele": "A",
          "end": 3908,
          "referenceAllele": "T",
          "start": 3907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353957.2:c.3609T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340886.1:p.Ser1203Arg",
        "hgvsWellDefined": "NP_001340886.1:p.Ser1203Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690003"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827785854",
      "coordinates": [
        {
          "allele": "A",
          "end": 3865,
          "referenceAllele": "T",
          "start": 3864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353958.2:c.3609T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340887.1:p.Ser1203Arg",
        "hgvsWellDefined": "NP_001340887.1:p.Ser1203Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690004"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827788828",
      "coordinates": [
        {
          "allele": "A",
          "end": 3997,
          "referenceAllele": "T",
          "start": 3996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353960.2:c.3606T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340889.1:p.Ser1202Arg",
        "hgvsWellDefined": "NP_001340889.1:p.Ser1202Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690005"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916036662",
      "coordinates": [
        {
          "allele": "A",
          "end": 4067,
          "referenceAllele": "T",
          "start": 4066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353961.2:c.1251T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340890.1:p.Ser417Arg",
        "hgvsWellDefined": "NP_001340890.1:p.Ser417Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690006"
    },
    {
      "@id": "http://reg.genome.network/allele/PA285137",
      "coordinates": [
        {
          "allele": "A",
          "end": 4138,
          "referenceAllele": "T",
          "start": 4137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.6:c.3660T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_008851.3:p.Ser1220Arg",
        "hgvsWellDefined": "NP_008851.3:p.Ser1220Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696855"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4046,
          "referenceAllele": "T",
          "start": 4045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NR_148667.2:n.4046T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704821"
    },
    {
      "@id": "http://reg.genome.network/allele/PA108264",
      "coordinates": [
        {
          "allele": "A",
          "end": 4171,
          "referenceAllele": "T",
          "start": 4170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.4:c.3693T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Ser1231Arg",
        "hgvsWellDefined": "NP_001159435.1:p.Ser1231Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713154",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674923.1:c.3693T>A"
          },
          "RefSeq": {
            "hgvs": "NM_001165963.4:c.3693T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501589.1:p.Ser1231Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001159435.1:p.Ser1231Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}