{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA285099",
  "communityStandardTitle": [
    "NM_001165963.4(SCN1A):c.2854T>G (p.Trp952Gly)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=79497[alleleid]",
        "alleleId": 79497,
        "preferredName": "NM_001165963.4(SCN1A):c.2854T>G (p.Trp952Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/68605",
        "RCV": [
          "RCV000059482"
        ],
        "variationId": 68605
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.166894378A>C?assembly=hg19",
        "id": "chr2:g.166894378A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.166037868A>C?assembly=hg38",
        "id": "chr2:g.166037868A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121918737",
        "rs": 121918737
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 166037868,
          "referenceAllele": "A",
          "start": 166037867
        }
      ],
      "hgvs": [
        "NC_000002.12:g.166037868A>C",
        "CM000664.2:g.166037868A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 166894378,
          "referenceAllele": "A",
          "start": 166894377
        }
      ],
      "hgvs": [
        "NC_000002.11:g.166894378A>C",
        "CM000664.1:g.166894378A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 166602624,
          "referenceAllele": "A",
          "start": 166602623
        }
      ],
      "hgvs": [
        "NC_000002.10:g.166602624A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 40772,
          "referenceAllele": "T",
          "start": 40771
        }
      ],
      "hgvs": [
        "NG_011906.1:g.40772T>G",
        "LRG_8:g.40772T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002054"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2997,
          "referenceAllele": "T",
          "start": 2996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000689288.1:c.*890T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509637.1:n.*890T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832093"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3245,
          "referenceAllele": "T",
          "start": 3244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000303395.9:c.2854T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303540.4:p.Trp952Gly",
        "hgvsWellDefined": "ENSP00000303540.4:p.Trp952Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745029"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3038,
          "referenceAllele": "T",
          "start": 3037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000635750.1:c.2821T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490799.1:p.Trp941Gly",
        "hgvsWellDefined": "ENSP00000490799.1:p.Trp941Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762613"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3123,
          "referenceAllele": "T",
          "start": 3122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000635776.1:c.2821T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490692.1:p.Trp941Gly",
        "hgvsWellDefined": "ENSP00000490692.1:p.Trp941Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762634"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3247,
          "referenceAllele": "T",
          "start": 3246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000636194.1:c.*347T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490288.1:n.*347T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762941"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3514,
          "referenceAllele": "T",
          "start": 3513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000636759.1:c.*2644T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490895.1:n.*2644T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763360"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3106,
          "referenceAllele": "T",
          "start": 3105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000637968.1:n.3106T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764246"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3301,
          "referenceAllele": "T",
          "start": 3300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000637988.1:c.2821T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490780.1:p.Trp941Gly",
        "hgvsWellDefined": "ENSP00000490780.1:p.Trp941Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764260"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2870,
          "referenceAllele": "T",
          "start": 2869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000640036.1:c.2821T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491573.1:p.Trp941Gly",
        "hgvsWellDefined": "ENSP00000491573.1:p.Trp941Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765301"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3094,
          "referenceAllele": "T",
          "start": 3093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000641575.1:c.2818T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492917.1:p.Trp940Gly",
        "hgvsWellDefined": "ENSP00000492917.1:p.Trp940Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766184"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3008,
          "referenceAllele": "T",
          "start": 3007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000641603.1:c.2854T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492945.1:p.Trp952Gly",
        "hgvsWellDefined": "ENSP00000492945.1:p.Trp952Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766204"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3123,
          "referenceAllele": "T",
          "start": 3122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000641996.1:c.*2408T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493054.1:n.*2408T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766485"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3073,
          "referenceAllele": "T",
          "start": 3072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000671940.1:c.*797T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500336.1:n.*797T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773217"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5327,
          "referenceAllele": "T",
          "start": 5326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000673490.1:n.5327T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773702"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3332,
          "referenceAllele": "T",
          "start": 3331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000674923.1:c.2854T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501589.1:p.Trp952Gly",
        "hgvsWellDefined": "ENSP00000501589.1:p.Trp952Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774809",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674923.1:c.2854T>G"
          },
          "RefSeq": {
            "hgvs": "NM_001165963.4:c.2854T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501589.1:p.Trp952Gly"
          },
          "RefSeq": {
            "hgvs": "NP_001159435.1:p.Trp952Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3272,
          "referenceAllele": "T",
          "start": 3271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000303395.8:c.2854T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303540.4:p.Trp952Gly",
        "hgvsWellDefined": "ENSP00000303540.4:p.Trp952Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255312"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2839,
          "referenceAllele": "T",
          "start": 2838
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000375405.7:c.2821T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364554.3:p.Trp941Gly",
        "hgvsWellDefined": "ENSP00000364554.3:p.Trp941Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270694"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2770,
          "referenceAllele": "T",
          "start": 2769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000409050.1:c.2770T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386312.1:p.Trp924Gly",
        "hgvsWellDefined": "ENSP00000386312.1:p.Trp924Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281214"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2930,
          "referenceAllele": "T",
          "start": 2929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000423058.6:c.2854T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407030.2:p.Trp952Gly",
        "hgvsWellDefined": "ENSP00000407030.2:p.Trp952Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287573"
    },
    {
      "@id": "http://reg.genome.network/allele/PA108562",
      "coordinates": [
        {
          "allele": "G",
          "end": 2872,
          "referenceAllele": "T",
          "start": 2871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.1:c.2854T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Trp952Gly",
        "hgvsWellDefined": "NP_001159435.1:p.Trp952Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014743"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826012630",
      "coordinates": [
        {
          "allele": "G",
          "end": 2788,
          "referenceAllele": "T",
          "start": 2787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165964.1:c.2770T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159436.1:p.Trp924Gly",
        "hgvsWellDefined": "NP_001159436.1:p.Trp924Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014744"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826259235",
      "coordinates": [
        {
          "allele": "G",
          "end": 3081,
          "referenceAllele": "T",
          "start": 3080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001202435.1:c.2854T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189364.1:p.Trp952Gly",
        "hgvsWellDefined": "NP_001189364.1:p.Trp952Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017403"
    },
    {
      "@id": "http://reg.genome.network/allele/PA285101",
      "coordinates": [
        {
          "allele": "G",
          "end": 2839,
          "referenceAllele": "T",
          "start": 2838
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.4:c.2821T>G",
        "LRG_8t1:c.2821T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_008851.3:p.Trp941Gly",
        "hgvsWellDefined": "NP_008851.3:p.Trp941Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031895"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3038,
          "referenceAllele": "T",
          "start": 3037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511598.1:c.2854T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509900.1:p.Trp952Gly",
        "hgvsWellDefined": "XP_011509900.1:p.Trp952Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078859"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3253,
          "referenceAllele": "T",
          "start": 3252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511599.1:c.2854T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509901.1:p.Trp952Gly",
        "hgvsWellDefined": "XP_011509901.1:p.Trp952Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078860"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3129,
          "referenceAllele": "T",
          "start": 3128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511600.1:c.2854T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509902.1:p.Trp952Gly",
        "hgvsWellDefined": "XP_011509902.1:p.Trp952Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078861"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3248,
          "referenceAllele": "T",
          "start": 3247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511601.1:c.2854T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509903.1:p.Trp952Gly",
        "hgvsWellDefined": "XP_011509903.1:p.Trp952Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078862"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3161,
          "referenceAllele": "T",
          "start": 3160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511602.1:c.2854T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509904.1:p.Trp952Gly",
        "hgvsWellDefined": "XP_011509904.1:p.Trp952Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078863"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3035,
          "referenceAllele": "T",
          "start": 3034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511603.1:c.2851T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509905.1:p.Trp951Gly",
        "hgvsWellDefined": "XP_011509905.1:p.Trp951Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078864"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3005,
          "referenceAllele": "T",
          "start": 3004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511604.1:c.2821T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509906.1:p.Trp941Gly",
        "hgvsWellDefined": "XP_011509906.1:p.Trp941Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078865"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3002,
          "referenceAllele": "T",
          "start": 3001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511605.1:c.2818T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509907.1:p.Trp940Gly",
        "hgvsWellDefined": "XP_011509907.1:p.Trp940Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078866"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2954,
          "referenceAllele": "T",
          "start": 2953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511606.1:c.2770T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509908.1:p.Trp924Gly",
        "hgvsWellDefined": "XP_011509908.1:p.Trp924Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078867"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3038,
          "referenceAllele": "T",
          "start": 3037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511607.1:c.2854T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509909.1:p.Trp952Gly",
        "hgvsWellDefined": "XP_011509909.1:p.Trp952Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078868"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3038,
          "referenceAllele": "T",
          "start": 3037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XR_922981.1:n.3038T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS120043"
    },
    {
      "@id": "http://reg.genome.network/allele/PA108562",
      "coordinates": [
        {
          "allele": "G",
          "end": 3351,
          "referenceAllele": "T",
          "start": 3350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.2:c.2854T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Trp952Gly",
        "hgvsWellDefined": "NP_001159435.1:p.Trp952Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511667"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826012630",
      "coordinates": [
        {
          "allele": "G",
          "end": 3180,
          "referenceAllele": "T",
          "start": 3179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165964.2:c.2770T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159436.1:p.Trp924Gly",
        "hgvsWellDefined": "NP_001159436.1:p.Trp924Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511668"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826259235",
      "coordinates": [
        {
          "allele": "G",
          "end": 3165,
          "referenceAllele": "T",
          "start": 3164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001202435.2:c.2854T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189364.1:p.Trp952Gly",
        "hgvsWellDefined": "NP_001189364.1:p.Trp952Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511850"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916036458",
      "coordinates": [
        {
          "allele": "G",
          "end": 3172,
          "referenceAllele": "T",
          "start": 3171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353948.1:c.2854T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340877.1:p.Trp952Gly",
        "hgvsWellDefined": "NP_001340877.1:p.Trp952Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522051"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827758602",
      "coordinates": [
        {
          "allele": "G",
          "end": 3040,
          "referenceAllele": "T",
          "start": 3039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353949.1:c.2821T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340878.1:p.Trp941Gly",
        "hgvsWellDefined": "NP_001340878.1:p.Trp941Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522052"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827765179",
      "coordinates": [
        {
          "allele": "G",
          "end": 3132,
          "referenceAllele": "T",
          "start": 3131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353950.1:c.2821T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340879.1:p.Trp941Gly",
        "hgvsWellDefined": "NP_001340879.1:p.Trp941Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522053"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827770602",
      "coordinates": [
        {
          "allele": "G",
          "end": 3139,
          "referenceAllele": "T",
          "start": 3138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353951.1:c.2821T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340880.1:p.Trp941Gly",
        "hgvsWellDefined": "NP_001340880.1:p.Trp941Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522054"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827773591",
      "coordinates": [
        {
          "allele": "G",
          "end": 3231,
          "referenceAllele": "T",
          "start": 3230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353952.1:c.2821T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340881.1:p.Trp941Gly",
        "hgvsWellDefined": "NP_001340881.1:p.Trp941Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522055"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827776578",
      "coordinates": [
        {
          "allele": "G",
          "end": 3228,
          "referenceAllele": "T",
          "start": 3227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353954.1:c.2818T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340883.1:p.Trp940Gly",
        "hgvsWellDefined": "NP_001340883.1:p.Trp940Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522056"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827779563",
      "coordinates": [
        {
          "allele": "G",
          "end": 3136,
          "referenceAllele": "T",
          "start": 3135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353955.1:c.2818T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340884.1:p.Trp940Gly",
        "hgvsWellDefined": "NP_001340884.1:p.Trp940Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522057"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827782534",
      "coordinates": [
        {
          "allele": "G",
          "end": 3088,
          "referenceAllele": "T",
          "start": 3087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353957.1:c.2770T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340886.1:p.Trp924Gly",
        "hgvsWellDefined": "NP_001340886.1:p.Trp924Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522058"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827785508",
      "coordinates": [
        {
          "allele": "G",
          "end": 3081,
          "referenceAllele": "T",
          "start": 3080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353958.1:c.2770T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340887.1:p.Trp924Gly",
        "hgvsWellDefined": "NP_001340887.1:p.Trp924Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522059"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827788467",
      "coordinates": [
        {
          "allele": "G",
          "end": 3177,
          "referenceAllele": "T",
          "start": 3176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353960.1:c.2767T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340889.1:p.Trp923Gly",
        "hgvsWellDefined": "NP_001340889.1:p.Trp923Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522060"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827790312",
      "coordinates": [
        {
          "allele": "G",
          "end": 3247,
          "referenceAllele": "T",
          "start": 3246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353961.1:c.412T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340890.1:p.Trp138Gly",
        "hgvsWellDefined": "NP_001340890.1:p.Trp138Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522061"
    },
    {
      "@id": "http://reg.genome.network/allele/PA285101",
      "coordinates": [
        {
          "allele": "G",
          "end": 3318,
          "referenceAllele": "T",
          "start": 3317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.5:c.2821T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_008851.3:p.Trp941Gly",
        "hgvsWellDefined": "NP_008851.3:p.Trp941Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525436"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3226,
          "referenceAllele": "T",
          "start": 3225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NR_148667.1:n.3226T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531272"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3240,
          "referenceAllele": "T",
          "start": 3239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XR_001738883.1:n.3240T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589320"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3212,
          "referenceAllele": "T",
          "start": 3211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XR_001738884.1:n.3212T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589321"
    },
    {
      "@id": "http://reg.genome.network/allele/PA108562",
      "coordinates": [
        {
          "allele": "G",
          "end": 3332,
          "referenceAllele": "T",
          "start": 3331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.3:c.2854T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Trp952Gly",
        "hgvsWellDefined": "NP_001159435.1:p.Trp952Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678433"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826012630",
      "coordinates": [
        {
          "allele": "G",
          "end": 3161,
          "referenceAllele": "T",
          "start": 3160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165964.3:c.2770T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159436.1:p.Trp924Gly",
        "hgvsWellDefined": "NP_001159436.1:p.Trp924Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678434"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826259235",
      "coordinates": [
        {
          "allele": "G",
          "end": 3110,
          "referenceAllele": "T",
          "start": 3109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001202435.3:c.2854T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189364.1:p.Trp952Gly",
        "hgvsWellDefined": "NP_001189364.1:p.Trp952Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679700"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916036458",
      "coordinates": [
        {
          "allele": "G",
          "end": 3153,
          "referenceAllele": "T",
          "start": 3152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353948.2:c.2854T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340877.1:p.Trp952Gly",
        "hgvsWellDefined": "NP_001340877.1:p.Trp952Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689996"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827758602",
      "coordinates": [
        {
          "allele": "G",
          "end": 2985,
          "referenceAllele": "T",
          "start": 2984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353949.2:c.2821T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340878.1:p.Trp941Gly",
        "hgvsWellDefined": "NP_001340878.1:p.Trp941Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827765179",
      "coordinates": [
        {
          "allele": "G",
          "end": 3077,
          "referenceAllele": "T",
          "start": 3076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353950.2:c.2821T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340879.1:p.Trp941Gly",
        "hgvsWellDefined": "NP_001340879.1:p.Trp941Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689998"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827770602",
      "coordinates": [
        {
          "allele": "G",
          "end": 3120,
          "referenceAllele": "T",
          "start": 3119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353951.2:c.2821T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340880.1:p.Trp941Gly",
        "hgvsWellDefined": "NP_001340880.1:p.Trp941Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689999"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827773591",
      "coordinates": [
        {
          "allele": "G",
          "end": 3212,
          "referenceAllele": "T",
          "start": 3211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353952.2:c.2821T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340881.1:p.Trp941Gly",
        "hgvsWellDefined": "NP_001340881.1:p.Trp941Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690000"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827776578",
      "coordinates": [
        {
          "allele": "G",
          "end": 3209,
          "referenceAllele": "T",
          "start": 3208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353954.2:c.2818T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340883.1:p.Trp940Gly",
        "hgvsWellDefined": "NP_001340883.1:p.Trp940Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690001"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827779563",
      "coordinates": [
        {
          "allele": "G",
          "end": 3117,
          "referenceAllele": "T",
          "start": 3116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353955.2:c.2818T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340884.1:p.Trp940Gly",
        "hgvsWellDefined": "NP_001340884.1:p.Trp940Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690002"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827782534",
      "coordinates": [
        {
          "allele": "G",
          "end": 3069,
          "referenceAllele": "T",
          "start": 3068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353957.2:c.2770T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340886.1:p.Trp924Gly",
        "hgvsWellDefined": "NP_001340886.1:p.Trp924Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690003"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827785508",
      "coordinates": [
        {
          "allele": "G",
          "end": 3026,
          "referenceAllele": "T",
          "start": 3025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353958.2:c.2770T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340887.1:p.Trp924Gly",
        "hgvsWellDefined": "NP_001340887.1:p.Trp924Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690004"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827788467",
      "coordinates": [
        {
          "allele": "G",
          "end": 3158,
          "referenceAllele": "T",
          "start": 3157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353960.2:c.2767T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340889.1:p.Trp923Gly",
        "hgvsWellDefined": "NP_001340889.1:p.Trp923Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690005"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827790312",
      "coordinates": [
        {
          "allele": "G",
          "end": 3228,
          "referenceAllele": "T",
          "start": 3227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353961.2:c.412T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340890.1:p.Trp138Gly",
        "hgvsWellDefined": "NP_001340890.1:p.Trp138Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690006"
    },
    {
      "@id": "http://reg.genome.network/allele/PA285101",
      "coordinates": [
        {
          "allele": "G",
          "end": 3299,
          "referenceAllele": "T",
          "start": 3298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.6:c.2821T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_008851.3:p.Trp941Gly",
        "hgvsWellDefined": "NP_008851.3:p.Trp941Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696855"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3207,
          "referenceAllele": "T",
          "start": 3206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NR_148667.2:n.3207T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704821"
    },
    {
      "@id": "http://reg.genome.network/allele/PA108562",
      "coordinates": [
        {
          "allele": "G",
          "end": 3332,
          "referenceAllele": "T",
          "start": 3331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.4:c.2854T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Trp952Gly",
        "hgvsWellDefined": "NP_001159435.1:p.Trp952Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713154",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674923.1:c.2854T>G"
          },
          "RefSeq": {
            "hgvs": "NM_001165963.4:c.2854T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501589.1:p.Trp952Gly"
          },
          "RefSeq": {
            "hgvs": "NP_001159435.1:p.Trp952Gly"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}