{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA285069",
  "communityStandardTitle": [
    "NM_001165963.4(SCN1A):c.2585G>A (p.Arg862Gln)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=79485[alleleid]",
        "alleleId": 79485,
        "preferredName": "NM_001165963.4(SCN1A):c.2585G>A (p.Arg862Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/68593",
        "RCV": [
          "RCV000059469",
          "RCV000591357",
          "RCV000798343"
        ],
        "variationId": 68593
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.166895937C>T?assembly=hg19",
        "id": "chr2:g.166895937C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.166039427C>T?assembly=hg38",
        "id": "chr2:g.166039427C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121918785",
        "rs": 121918785
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-166895937-C-T?dataset=gnomad_r2_1",
        "id": "2-166895937-C-T",
        "variant": "2:166895937 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-166039427-C-T?dataset=gnomad_r3",
        "id": "2-166039427-C-T",
        "variant": "2:166039427 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-166039427-C-T?dataset=gnomad_r4",
        "id": "2-166039427-C-T",
        "variant": "2:166039427 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 166039427,
          "referenceAllele": "C",
          "start": 166039426
        }
      ],
      "hgvs": [
        "NC_000002.12:g.166039427C>T",
        "CM000664.2:g.166039427C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 166895937,
          "referenceAllele": "C",
          "start": 166895936
        }
      ],
      "hgvs": [
        "NC_000002.11:g.166895937C>T",
        "CM000664.1:g.166895937C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 166604183,
          "referenceAllele": "C",
          "start": 166604182
        }
      ],
      "hgvs": [
        "NC_000002.10:g.166604183C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 39213,
          "referenceAllele": "G",
          "start": 39212
        }
      ],
      "hgvs": [
        "NG_011906.1:g.39213G>A",
        "LRG_8:g.39213G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002054"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2728,
          "referenceAllele": "G",
          "start": 2727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000689288.1:c.*621G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509637.1:n.*621G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832093"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2976,
          "referenceAllele": "G",
          "start": 2975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000303395.9:c.2585G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303540.4:p.Arg862Gln",
        "hgvsWellDefined": "ENSP00000303540.4:p.Arg862Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745029"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2769,
          "referenceAllele": "G",
          "start": 2768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000635750.1:c.2552G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490799.1:p.Arg851Gln",
        "hgvsWellDefined": "ENSP00000490799.1:p.Arg851Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762613"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2854,
          "referenceAllele": "G",
          "start": 2853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000635776.1:c.2552G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490692.1:p.Arg851Gln",
        "hgvsWellDefined": "ENSP00000490692.1:p.Arg851Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762634"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2978,
          "referenceAllele": "G",
          "start": 2977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000636194.1:c.*78G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490288.1:n.*78G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762941"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3245,
          "referenceAllele": "G",
          "start": 3244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000636759.1:c.*2375G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490895.1:n.*2375G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763360"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2837,
          "referenceAllele": "G",
          "start": 2836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000637968.1:n.2837G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764246"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3032,
          "referenceAllele": "G",
          "start": 3031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000637988.1:c.2552G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490780.1:p.Arg851Gln",
        "hgvsWellDefined": "ENSP00000490780.1:p.Arg851Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764260"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2601,
          "referenceAllele": "G",
          "start": 2600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000640036.1:c.2552G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491573.1:p.Arg851Gln",
        "hgvsWellDefined": "ENSP00000491573.1:p.Arg851Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765301"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2825,
          "referenceAllele": "G",
          "start": 2824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000641575.1:c.2549G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492917.1:p.Arg850Gln",
        "hgvsWellDefined": "ENSP00000492917.1:p.Arg850Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766184"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2739,
          "referenceAllele": "G",
          "start": 2738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000641603.1:c.2585G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492945.1:p.Arg862Gln",
        "hgvsWellDefined": "ENSP00000492945.1:p.Arg862Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766204"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2854,
          "referenceAllele": "G",
          "start": 2853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000641996.1:c.*2139G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493054.1:n.*2139G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766485"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2804,
          "referenceAllele": "G",
          "start": 2803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000671940.1:c.*528G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500336.1:n.*528G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773217"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5058,
          "referenceAllele": "G",
          "start": 5057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000673490.1:n.5058G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773702"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3063,
          "referenceAllele": "G",
          "start": 3062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000674923.1:c.2585G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501589.1:p.Arg862Gln",
        "hgvsWellDefined": "ENSP00000501589.1:p.Arg862Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774809",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674923.1:c.2585G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001165963.4:c.2585G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501589.1:p.Arg862Gln"
          },
          "RefSeq": {
            "hgvs": "NP_001159435.1:p.Arg862Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3003,
          "referenceAllele": "G",
          "start": 3002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000303395.8:c.2585G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303540.4:p.Arg862Gln",
        "hgvsWellDefined": "ENSP00000303540.4:p.Arg862Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255312"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2570,
          "referenceAllele": "G",
          "start": 2569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000375405.7:c.2552G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364554.3:p.Arg851Gln",
        "hgvsWellDefined": "ENSP00000364554.3:p.Arg851Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270694"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2501,
          "referenceAllele": "G",
          "start": 2500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000409050.1:c.2501G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386312.1:p.Arg834Gln",
        "hgvsWellDefined": "ENSP00000386312.1:p.Arg834Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281214"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2661,
          "referenceAllele": "G",
          "start": 2660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000423058.6:c.2585G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407030.2:p.Arg862Gln",
        "hgvsWellDefined": "ENSP00000407030.2:p.Arg862Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287573"
    },
    {
      "@id": "http://reg.genome.network/allele/PA107239",
      "coordinates": [
        {
          "allele": "A",
          "end": 2603,
          "referenceAllele": "G",
          "start": 2602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.1:c.2585G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Arg862Gln",
        "hgvsWellDefined": "NP_001159435.1:p.Arg862Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014743"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826012477",
      "coordinates": [
        {
          "allele": "A",
          "end": 2519,
          "referenceAllele": "G",
          "start": 2518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165964.1:c.2501G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159436.1:p.Arg834Gln",
        "hgvsWellDefined": "NP_001159436.1:p.Arg834Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014744"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826259081",
      "coordinates": [
        {
          "allele": "A",
          "end": 2812,
          "referenceAllele": "G",
          "start": 2811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001202435.1:c.2585G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189364.1:p.Arg862Gln",
        "hgvsWellDefined": "NP_001189364.1:p.Arg862Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017403"
    },
    {
      "@id": "http://reg.genome.network/allele/PA285071",
      "coordinates": [
        {
          "allele": "A",
          "end": 2570,
          "referenceAllele": "G",
          "start": 2569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.4:c.2552G>A",
        "LRG_8t1:c.2552G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_008851.3:p.Arg851Gln",
        "hgvsWellDefined": "NP_008851.3:p.Arg851Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031895"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2769,
          "referenceAllele": "G",
          "start": 2768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511598.1:c.2585G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509900.1:p.Arg862Gln",
        "hgvsWellDefined": "XP_011509900.1:p.Arg862Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078859"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2984,
          "referenceAllele": "G",
          "start": 2983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511599.1:c.2585G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509901.1:p.Arg862Gln",
        "hgvsWellDefined": "XP_011509901.1:p.Arg862Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078860"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2860,
          "referenceAllele": "G",
          "start": 2859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511600.1:c.2585G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509902.1:p.Arg862Gln",
        "hgvsWellDefined": "XP_011509902.1:p.Arg862Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078861"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2979,
          "referenceAllele": "G",
          "start": 2978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511601.1:c.2585G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509903.1:p.Arg862Gln",
        "hgvsWellDefined": "XP_011509903.1:p.Arg862Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078862"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2892,
          "referenceAllele": "G",
          "start": 2891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511602.1:c.2585G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509904.1:p.Arg862Gln",
        "hgvsWellDefined": "XP_011509904.1:p.Arg862Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078863"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2766,
          "referenceAllele": "G",
          "start": 2765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511603.1:c.2582G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509905.1:p.Arg861Gln",
        "hgvsWellDefined": "XP_011509905.1:p.Arg861Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078864"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2736,
          "referenceAllele": "G",
          "start": 2735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511604.1:c.2552G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509906.1:p.Arg851Gln",
        "hgvsWellDefined": "XP_011509906.1:p.Arg851Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078865"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2733,
          "referenceAllele": "G",
          "start": 2732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511605.1:c.2549G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509907.1:p.Arg850Gln",
        "hgvsWellDefined": "XP_011509907.1:p.Arg850Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078866"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2685,
          "referenceAllele": "G",
          "start": 2684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511606.1:c.2501G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509908.1:p.Arg834Gln",
        "hgvsWellDefined": "XP_011509908.1:p.Arg834Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078867"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2769,
          "referenceAllele": "G",
          "start": 2768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511607.1:c.2585G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509909.1:p.Arg862Gln",
        "hgvsWellDefined": "XP_011509909.1:p.Arg862Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078868"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2769,
          "referenceAllele": "G",
          "start": 2768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XR_922981.1:n.2769G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS120043"
    },
    {
      "@id": "http://reg.genome.network/allele/PA107239",
      "coordinates": [
        {
          "allele": "A",
          "end": 3082,
          "referenceAllele": "G",
          "start": 3081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.2:c.2585G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Arg862Gln",
        "hgvsWellDefined": "NP_001159435.1:p.Arg862Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511667"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826012477",
      "coordinates": [
        {
          "allele": "A",
          "end": 2911,
          "referenceAllele": "G",
          "start": 2910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165964.2:c.2501G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159436.1:p.Arg834Gln",
        "hgvsWellDefined": "NP_001159436.1:p.Arg834Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511668"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826259081",
      "coordinates": [
        {
          "allele": "A",
          "end": 2896,
          "referenceAllele": "G",
          "start": 2895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001202435.2:c.2585G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189364.1:p.Arg862Gln",
        "hgvsWellDefined": "NP_001189364.1:p.Arg862Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511850"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916036407",
      "coordinates": [
        {
          "allele": "A",
          "end": 2903,
          "referenceAllele": "G",
          "start": 2902
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353948.1:c.2585G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340877.1:p.Arg862Gln",
        "hgvsWellDefined": "NP_001340877.1:p.Arg862Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522051"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827758223",
      "coordinates": [
        {
          "allele": "A",
          "end": 2771,
          "referenceAllele": "G",
          "start": 2770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353949.1:c.2552G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340878.1:p.Arg851Gln",
        "hgvsWellDefined": "NP_001340878.1:p.Arg851Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522052"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827764836",
      "coordinates": [
        {
          "allele": "A",
          "end": 2863,
          "referenceAllele": "G",
          "start": 2862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353950.1:c.2552G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340879.1:p.Arg851Gln",
        "hgvsWellDefined": "NP_001340879.1:p.Arg851Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522053"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827770448",
      "coordinates": [
        {
          "allele": "A",
          "end": 2870,
          "referenceAllele": "G",
          "start": 2869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353951.1:c.2552G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340880.1:p.Arg851Gln",
        "hgvsWellDefined": "NP_001340880.1:p.Arg851Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522054"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827773436",
      "coordinates": [
        {
          "allele": "A",
          "end": 2962,
          "referenceAllele": "G",
          "start": 2961
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353952.1:c.2552G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340881.1:p.Arg851Gln",
        "hgvsWellDefined": "NP_001340881.1:p.Arg851Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522055"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827776421",
      "coordinates": [
        {
          "allele": "A",
          "end": 2959,
          "referenceAllele": "G",
          "start": 2958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353954.1:c.2549G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340883.1:p.Arg850Gln",
        "hgvsWellDefined": "NP_001340883.1:p.Arg850Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522056"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827779411",
      "coordinates": [
        {
          "allele": "A",
          "end": 2867,
          "referenceAllele": "G",
          "start": 2866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353955.1:c.2549G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340884.1:p.Arg850Gln",
        "hgvsWellDefined": "NP_001340884.1:p.Arg850Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522057"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827782383",
      "coordinates": [
        {
          "allele": "A",
          "end": 2819,
          "referenceAllele": "G",
          "start": 2818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353957.1:c.2501G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340886.1:p.Arg834Gln",
        "hgvsWellDefined": "NP_001340886.1:p.Arg834Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522058"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827785353",
      "coordinates": [
        {
          "allele": "A",
          "end": 2812,
          "referenceAllele": "G",
          "start": 2811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353958.1:c.2501G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340887.1:p.Arg834Gln",
        "hgvsWellDefined": "NP_001340887.1:p.Arg834Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522059"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827788312",
      "coordinates": [
        {
          "allele": "A",
          "end": 2908,
          "referenceAllele": "G",
          "start": 2907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353960.1:c.2498G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340889.1:p.Arg833Gln",
        "hgvsWellDefined": "NP_001340889.1:p.Arg833Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522060"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827790175",
      "coordinates": [
        {
          "allele": "A",
          "end": 2978,
          "referenceAllele": "G",
          "start": 2977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353961.1:c.143G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340890.1:p.Arg48Gln",
        "hgvsWellDefined": "NP_001340890.1:p.Arg48Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522061"
    },
    {
      "@id": "http://reg.genome.network/allele/PA285071",
      "coordinates": [
        {
          "allele": "A",
          "end": 3049,
          "referenceAllele": "G",
          "start": 3048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.5:c.2552G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_008851.3:p.Arg851Gln",
        "hgvsWellDefined": "NP_008851.3:p.Arg851Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525436"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2957,
          "referenceAllele": "G",
          "start": 2956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NR_148667.1:n.2957G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531272"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2971,
          "referenceAllele": "G",
          "start": 2970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XR_001738883.1:n.2971G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589320"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2943,
          "referenceAllele": "G",
          "start": 2942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XR_001738884.1:n.2943G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589321"
    },
    {
      "@id": "http://reg.genome.network/allele/PA107239",
      "coordinates": [
        {
          "allele": "A",
          "end": 3063,
          "referenceAllele": "G",
          "start": 3062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.3:c.2585G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Arg862Gln",
        "hgvsWellDefined": "NP_001159435.1:p.Arg862Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678433"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826012477",
      "coordinates": [
        {
          "allele": "A",
          "end": 2892,
          "referenceAllele": "G",
          "start": 2891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165964.3:c.2501G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159436.1:p.Arg834Gln",
        "hgvsWellDefined": "NP_001159436.1:p.Arg834Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678434"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826259081",
      "coordinates": [
        {
          "allele": "A",
          "end": 2841,
          "referenceAllele": "G",
          "start": 2840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001202435.3:c.2585G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189364.1:p.Arg862Gln",
        "hgvsWellDefined": "NP_001189364.1:p.Arg862Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679700"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916036407",
      "coordinates": [
        {
          "allele": "A",
          "end": 2884,
          "referenceAllele": "G",
          "start": 2883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353948.2:c.2585G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340877.1:p.Arg862Gln",
        "hgvsWellDefined": "NP_001340877.1:p.Arg862Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689996"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827758223",
      "coordinates": [
        {
          "allele": "A",
          "end": 2716,
          "referenceAllele": "G",
          "start": 2715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353949.2:c.2552G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340878.1:p.Arg851Gln",
        "hgvsWellDefined": "NP_001340878.1:p.Arg851Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827764836",
      "coordinates": [
        {
          "allele": "A",
          "end": 2808,
          "referenceAllele": "G",
          "start": 2807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353950.2:c.2552G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340879.1:p.Arg851Gln",
        "hgvsWellDefined": "NP_001340879.1:p.Arg851Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689998"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827770448",
      "coordinates": [
        {
          "allele": "A",
          "end": 2851,
          "referenceAllele": "G",
          "start": 2850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353951.2:c.2552G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340880.1:p.Arg851Gln",
        "hgvsWellDefined": "NP_001340880.1:p.Arg851Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689999"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827773436",
      "coordinates": [
        {
          "allele": "A",
          "end": 2943,
          "referenceAllele": "G",
          "start": 2942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353952.2:c.2552G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340881.1:p.Arg851Gln",
        "hgvsWellDefined": "NP_001340881.1:p.Arg851Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690000"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827776421",
      "coordinates": [
        {
          "allele": "A",
          "end": 2940,
          "referenceAllele": "G",
          "start": 2939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353954.2:c.2549G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340883.1:p.Arg850Gln",
        "hgvsWellDefined": "NP_001340883.1:p.Arg850Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690001"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827779411",
      "coordinates": [
        {
          "allele": "A",
          "end": 2848,
          "referenceAllele": "G",
          "start": 2847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353955.2:c.2549G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340884.1:p.Arg850Gln",
        "hgvsWellDefined": "NP_001340884.1:p.Arg850Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690002"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827782383",
      "coordinates": [
        {
          "allele": "A",
          "end": 2800,
          "referenceAllele": "G",
          "start": 2799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353957.2:c.2501G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340886.1:p.Arg834Gln",
        "hgvsWellDefined": "NP_001340886.1:p.Arg834Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690003"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827785353",
      "coordinates": [
        {
          "allele": "A",
          "end": 2757,
          "referenceAllele": "G",
          "start": 2756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353958.2:c.2501G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340887.1:p.Arg834Gln",
        "hgvsWellDefined": "NP_001340887.1:p.Arg834Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690004"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827788312",
      "coordinates": [
        {
          "allele": "A",
          "end": 2889,
          "referenceAllele": "G",
          "start": 2888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353960.2:c.2498G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340889.1:p.Arg833Gln",
        "hgvsWellDefined": "NP_001340889.1:p.Arg833Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690005"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827790175",
      "coordinates": [
        {
          "allele": "A",
          "end": 2959,
          "referenceAllele": "G",
          "start": 2958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353961.2:c.143G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340890.1:p.Arg48Gln",
        "hgvsWellDefined": "NP_001340890.1:p.Arg48Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690006"
    },
    {
      "@id": "http://reg.genome.network/allele/PA285071",
      "coordinates": [
        {
          "allele": "A",
          "end": 3030,
          "referenceAllele": "G",
          "start": 3029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.6:c.2552G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_008851.3:p.Arg851Gln",
        "hgvsWellDefined": "NP_008851.3:p.Arg851Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696855"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2938,
          "referenceAllele": "G",
          "start": 2937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NR_148667.2:n.2938G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704821"
    },
    {
      "@id": "http://reg.genome.network/allele/PA107239",
      "coordinates": [
        {
          "allele": "A",
          "end": 3063,
          "referenceAllele": "G",
          "start": 3062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.4:c.2585G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Arg862Gln",
        "hgvsWellDefined": "NP_001159435.1:p.Arg862Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713154",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674923.1:c.2585G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001165963.4:c.2585G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501589.1:p.Arg862Gln"
          },
          "RefSeq": {
            "hgvs": "NP_001159435.1:p.Arg862Gln"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}