{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA303122",
  "communityStandardTitle": [
    "NM_001165963.4(SCN1A):c.2879T>G (p.Met960Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=187790[alleleid]",
        "alleleId": 187790,
        "preferredName": "NM_001165963.4(SCN1A):c.2879T>G (p.Met960Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/189858",
        "RCV": [
          "RCV000180811"
        ],
        "variationId": 189858
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.166894353A>C?assembly=hg19",
        "id": "chr2:g.166894353A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.166037843A>C?assembly=hg38",
        "id": "chr2:g.166037843A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/794726708",
        "rs": 794726708
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 166037843,
          "referenceAllele": "A",
          "start": 166037842
        }
      ],
      "hgvs": [
        "NC_000002.12:g.166037843A>C",
        "CM000664.2:g.166037843A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 166894353,
          "referenceAllele": "A",
          "start": 166894352
        }
      ],
      "hgvs": [
        "NC_000002.11:g.166894353A>C",
        "CM000664.1:g.166894353A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 166602599,
          "referenceAllele": "A",
          "start": 166602598
        }
      ],
      "hgvs": [
        "NC_000002.10:g.166602599A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 40797,
          "referenceAllele": "T",
          "start": 40796
        }
      ],
      "hgvs": [
        "NG_011906.1:g.40797T>G",
        "LRG_8:g.40797T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002054"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3022,
          "referenceAllele": "T",
          "start": 3021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000689288.1:c.*915T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509637.1:n.*915T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832093"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3270,
          "referenceAllele": "T",
          "start": 3269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000303395.9:c.2879T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303540.4:p.Met960Arg",
        "hgvsWellDefined": "ENSP00000303540.4:p.Met960Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745029"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3063,
          "referenceAllele": "T",
          "start": 3062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000635750.1:c.2846T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490799.1:p.Met949Arg",
        "hgvsWellDefined": "ENSP00000490799.1:p.Met949Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762613"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3148,
          "referenceAllele": "T",
          "start": 3147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000635776.1:c.2846T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490692.1:p.Met949Arg",
        "hgvsWellDefined": "ENSP00000490692.1:p.Met949Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762634"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3272,
          "referenceAllele": "T",
          "start": 3271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000636194.1:c.*372T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490288.1:n.*372T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762941"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3539,
          "referenceAllele": "T",
          "start": 3538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000636759.1:c.*2669T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490895.1:n.*2669T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763360"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3131,
          "referenceAllele": "T",
          "start": 3130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000637968.1:n.3131T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764246"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3326,
          "referenceAllele": "T",
          "start": 3325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000637988.1:c.2846T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490780.1:p.Met949Arg",
        "hgvsWellDefined": "ENSP00000490780.1:p.Met949Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764260"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2895,
          "referenceAllele": "T",
          "start": 2894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000640036.1:c.2846T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491573.1:p.Met949Arg",
        "hgvsWellDefined": "ENSP00000491573.1:p.Met949Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765301"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3119,
          "referenceAllele": "T",
          "start": 3118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000641575.1:c.2843T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492917.1:p.Met948Arg",
        "hgvsWellDefined": "ENSP00000492917.1:p.Met948Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766184"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3033,
          "referenceAllele": "T",
          "start": 3032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000641603.1:c.2879T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492945.1:p.Met960Arg",
        "hgvsWellDefined": "ENSP00000492945.1:p.Met960Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766204"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3148,
          "referenceAllele": "T",
          "start": 3147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000641996.1:c.*2433T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493054.1:n.*2433T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766485"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3098,
          "referenceAllele": "T",
          "start": 3097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000671940.1:c.*822T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500336.1:n.*822T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773217"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5352,
          "referenceAllele": "T",
          "start": 5351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000673490.1:n.5352T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773702"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3357,
          "referenceAllele": "T",
          "start": 3356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000674923.1:c.2879T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501589.1:p.Met960Arg",
        "hgvsWellDefined": "ENSP00000501589.1:p.Met960Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774809",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674923.1:c.2879T>G"
          },
          "RefSeq": {
            "hgvs": "NM_001165963.4:c.2879T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501589.1:p.Met960Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001159435.1:p.Met960Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3297,
          "referenceAllele": "T",
          "start": 3296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000303395.8:c.2879T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303540.4:p.Met960Arg",
        "hgvsWellDefined": "ENSP00000303540.4:p.Met960Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255312"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2864,
          "referenceAllele": "T",
          "start": 2863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000375405.7:c.2846T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364554.3:p.Met949Arg",
        "hgvsWellDefined": "ENSP00000364554.3:p.Met949Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270694"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2795,
          "referenceAllele": "T",
          "start": 2794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000409050.1:c.2795T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386312.1:p.Met932Arg",
        "hgvsWellDefined": "ENSP00000386312.1:p.Met932Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281214"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2955,
          "referenceAllele": "T",
          "start": 2954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000423058.6:c.2879T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407030.2:p.Met960Arg",
        "hgvsWellDefined": "ENSP00000407030.2:p.Met960Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287573"
    },
    {
      "@id": "http://reg.genome.network/allele/PA303125",
      "coordinates": [
        {
          "allele": "G",
          "end": 2897,
          "referenceAllele": "T",
          "start": 2896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.1:c.2879T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Met960Arg",
        "hgvsWellDefined": "NP_001159435.1:p.Met960Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014743"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826012652",
      "coordinates": [
        {
          "allele": "G",
          "end": 2813,
          "referenceAllele": "T",
          "start": 2812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165964.1:c.2795T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159436.1:p.Met932Arg",
        "hgvsWellDefined": "NP_001159436.1:p.Met932Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014744"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826259257",
      "coordinates": [
        {
          "allele": "G",
          "end": 3106,
          "referenceAllele": "T",
          "start": 3105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001202435.1:c.2879T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189364.1:p.Met960Arg",
        "hgvsWellDefined": "NP_001189364.1:p.Met960Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017403"
    },
    {
      "@id": "http://reg.genome.network/allele/PA303124",
      "coordinates": [
        {
          "allele": "G",
          "end": 2864,
          "referenceAllele": "T",
          "start": 2863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.4:c.2846T>G",
        "LRG_8t1:c.2846T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_008851.3:p.Met949Arg",
        "hgvsWellDefined": "NP_008851.3:p.Met949Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031895"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3063,
          "referenceAllele": "T",
          "start": 3062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511598.1:c.2879T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509900.1:p.Met960Arg",
        "hgvsWellDefined": "XP_011509900.1:p.Met960Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078859"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3278,
          "referenceAllele": "T",
          "start": 3277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511599.1:c.2879T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509901.1:p.Met960Arg",
        "hgvsWellDefined": "XP_011509901.1:p.Met960Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078860"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3154,
          "referenceAllele": "T",
          "start": 3153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511600.1:c.2879T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509902.1:p.Met960Arg",
        "hgvsWellDefined": "XP_011509902.1:p.Met960Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078861"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3273,
          "referenceAllele": "T",
          "start": 3272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511601.1:c.2879T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509903.1:p.Met960Arg",
        "hgvsWellDefined": "XP_011509903.1:p.Met960Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078862"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3186,
          "referenceAllele": "T",
          "start": 3185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511602.1:c.2879T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509904.1:p.Met960Arg",
        "hgvsWellDefined": "XP_011509904.1:p.Met960Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078863"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3060,
          "referenceAllele": "T",
          "start": 3059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511603.1:c.2876T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509905.1:p.Met959Arg",
        "hgvsWellDefined": "XP_011509905.1:p.Met959Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078864"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3030,
          "referenceAllele": "T",
          "start": 3029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511604.1:c.2846T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509906.1:p.Met949Arg",
        "hgvsWellDefined": "XP_011509906.1:p.Met949Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078865"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3027,
          "referenceAllele": "T",
          "start": 3026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511605.1:c.2843T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509907.1:p.Met948Arg",
        "hgvsWellDefined": "XP_011509907.1:p.Met948Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078866"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2979,
          "referenceAllele": "T",
          "start": 2978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511606.1:c.2795T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509908.1:p.Met932Arg",
        "hgvsWellDefined": "XP_011509908.1:p.Met932Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078867"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3063,
          "referenceAllele": "T",
          "start": 3062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511607.1:c.2879T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509909.1:p.Met960Arg",
        "hgvsWellDefined": "XP_011509909.1:p.Met960Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078868"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3063,
          "referenceAllele": "T",
          "start": 3062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XR_922981.1:n.3063T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS120043"
    },
    {
      "@id": "http://reg.genome.network/allele/PA303125",
      "coordinates": [
        {
          "allele": "G",
          "end": 3376,
          "referenceAllele": "T",
          "start": 3375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.2:c.2879T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Met960Arg",
        "hgvsWellDefined": "NP_001159435.1:p.Met960Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511667"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826012652",
      "coordinates": [
        {
          "allele": "G",
          "end": 3205,
          "referenceAllele": "T",
          "start": 3204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165964.2:c.2795T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159436.1:p.Met932Arg",
        "hgvsWellDefined": "NP_001159436.1:p.Met932Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511668"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826259257",
      "coordinates": [
        {
          "allele": "G",
          "end": 3190,
          "referenceAllele": "T",
          "start": 3189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001202435.2:c.2879T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189364.1:p.Met960Arg",
        "hgvsWellDefined": "NP_001189364.1:p.Met960Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511850"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916036469",
      "coordinates": [
        {
          "allele": "G",
          "end": 3197,
          "referenceAllele": "T",
          "start": 3196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353948.1:c.2879T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340877.1:p.Met960Arg",
        "hgvsWellDefined": "NP_001340877.1:p.Met960Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522051"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827758657",
      "coordinates": [
        {
          "allele": "G",
          "end": 3065,
          "referenceAllele": "T",
          "start": 3064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353949.1:c.2846T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340878.1:p.Met949Arg",
        "hgvsWellDefined": "NP_001340878.1:p.Met949Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522052"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827765230",
      "coordinates": [
        {
          "allele": "G",
          "end": 3157,
          "referenceAllele": "T",
          "start": 3156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353950.1:c.2846T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340879.1:p.Met949Arg",
        "hgvsWellDefined": "NP_001340879.1:p.Met949Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522053"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827770626",
      "coordinates": [
        {
          "allele": "G",
          "end": 3164,
          "referenceAllele": "T",
          "start": 3163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353951.1:c.2846T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340880.1:p.Met949Arg",
        "hgvsWellDefined": "NP_001340880.1:p.Met949Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522054"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827773614",
      "coordinates": [
        {
          "allele": "G",
          "end": 3256,
          "referenceAllele": "T",
          "start": 3255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353952.1:c.2846T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340881.1:p.Met949Arg",
        "hgvsWellDefined": "NP_001340881.1:p.Met949Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522055"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827776598",
      "coordinates": [
        {
          "allele": "G",
          "end": 3253,
          "referenceAllele": "T",
          "start": 3252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353954.1:c.2843T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340883.1:p.Met948Arg",
        "hgvsWellDefined": "NP_001340883.1:p.Met948Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522056"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827779585",
      "coordinates": [
        {
          "allele": "G",
          "end": 3161,
          "referenceAllele": "T",
          "start": 3160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353955.1:c.2843T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340884.1:p.Met948Arg",
        "hgvsWellDefined": "NP_001340884.1:p.Met948Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522057"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827782558",
      "coordinates": [
        {
          "allele": "G",
          "end": 3113,
          "referenceAllele": "T",
          "start": 3112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353957.1:c.2795T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340886.1:p.Met932Arg",
        "hgvsWellDefined": "NP_001340886.1:p.Met932Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522058"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827785528",
      "coordinates": [
        {
          "allele": "G",
          "end": 3106,
          "referenceAllele": "T",
          "start": 3105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353958.1:c.2795T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340887.1:p.Met932Arg",
        "hgvsWellDefined": "NP_001340887.1:p.Met932Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522059"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827788491",
      "coordinates": [
        {
          "allele": "G",
          "end": 3202,
          "referenceAllele": "T",
          "start": 3201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353960.1:c.2792T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340889.1:p.Met931Arg",
        "hgvsWellDefined": "NP_001340889.1:p.Met931Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522060"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827790334",
      "coordinates": [
        {
          "allele": "G",
          "end": 3272,
          "referenceAllele": "T",
          "start": 3271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353961.1:c.437T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340890.1:p.Met146Arg",
        "hgvsWellDefined": "NP_001340890.1:p.Met146Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522061"
    },
    {
      "@id": "http://reg.genome.network/allele/PA303124",
      "coordinates": [
        {
          "allele": "G",
          "end": 3343,
          "referenceAllele": "T",
          "start": 3342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.5:c.2846T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_008851.3:p.Met949Arg",
        "hgvsWellDefined": "NP_008851.3:p.Met949Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525436"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3251,
          "referenceAllele": "T",
          "start": 3250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NR_148667.1:n.3251T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531272"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3265,
          "referenceAllele": "T",
          "start": 3264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XR_001738883.1:n.3265T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589320"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3237,
          "referenceAllele": "T",
          "start": 3236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XR_001738884.1:n.3237T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589321"
    },
    {
      "@id": "http://reg.genome.network/allele/PA303125",
      "coordinates": [
        {
          "allele": "G",
          "end": 3357,
          "referenceAllele": "T",
          "start": 3356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.3:c.2879T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Met960Arg",
        "hgvsWellDefined": "NP_001159435.1:p.Met960Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678433"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826012652",
      "coordinates": [
        {
          "allele": "G",
          "end": 3186,
          "referenceAllele": "T",
          "start": 3185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165964.3:c.2795T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159436.1:p.Met932Arg",
        "hgvsWellDefined": "NP_001159436.1:p.Met932Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678434"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826259257",
      "coordinates": [
        {
          "allele": "G",
          "end": 3135,
          "referenceAllele": "T",
          "start": 3134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001202435.3:c.2879T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189364.1:p.Met960Arg",
        "hgvsWellDefined": "NP_001189364.1:p.Met960Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679700"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916036469",
      "coordinates": [
        {
          "allele": "G",
          "end": 3178,
          "referenceAllele": "T",
          "start": 3177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353948.2:c.2879T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340877.1:p.Met960Arg",
        "hgvsWellDefined": "NP_001340877.1:p.Met960Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689996"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827758657",
      "coordinates": [
        {
          "allele": "G",
          "end": 3010,
          "referenceAllele": "T",
          "start": 3009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353949.2:c.2846T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340878.1:p.Met949Arg",
        "hgvsWellDefined": "NP_001340878.1:p.Met949Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827765230",
      "coordinates": [
        {
          "allele": "G",
          "end": 3102,
          "referenceAllele": "T",
          "start": 3101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353950.2:c.2846T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340879.1:p.Met949Arg",
        "hgvsWellDefined": "NP_001340879.1:p.Met949Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689998"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827770626",
      "coordinates": [
        {
          "allele": "G",
          "end": 3145,
          "referenceAllele": "T",
          "start": 3144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353951.2:c.2846T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340880.1:p.Met949Arg",
        "hgvsWellDefined": "NP_001340880.1:p.Met949Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689999"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827773614",
      "coordinates": [
        {
          "allele": "G",
          "end": 3237,
          "referenceAllele": "T",
          "start": 3236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353952.2:c.2846T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340881.1:p.Met949Arg",
        "hgvsWellDefined": "NP_001340881.1:p.Met949Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690000"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827776598",
      "coordinates": [
        {
          "allele": "G",
          "end": 3234,
          "referenceAllele": "T",
          "start": 3233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353954.2:c.2843T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340883.1:p.Met948Arg",
        "hgvsWellDefined": "NP_001340883.1:p.Met948Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690001"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827779585",
      "coordinates": [
        {
          "allele": "G",
          "end": 3142,
          "referenceAllele": "T",
          "start": 3141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353955.2:c.2843T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340884.1:p.Met948Arg",
        "hgvsWellDefined": "NP_001340884.1:p.Met948Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690002"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827782558",
      "coordinates": [
        {
          "allele": "G",
          "end": 3094,
          "referenceAllele": "T",
          "start": 3093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353957.2:c.2795T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340886.1:p.Met932Arg",
        "hgvsWellDefined": "NP_001340886.1:p.Met932Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690003"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827785528",
      "coordinates": [
        {
          "allele": "G",
          "end": 3051,
          "referenceAllele": "T",
          "start": 3050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353958.2:c.2795T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340887.1:p.Met932Arg",
        "hgvsWellDefined": "NP_001340887.1:p.Met932Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690004"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827788491",
      "coordinates": [
        {
          "allele": "G",
          "end": 3183,
          "referenceAllele": "T",
          "start": 3182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353960.2:c.2792T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340889.1:p.Met931Arg",
        "hgvsWellDefined": "NP_001340889.1:p.Met931Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690005"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827790334",
      "coordinates": [
        {
          "allele": "G",
          "end": 3253,
          "referenceAllele": "T",
          "start": 3252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353961.2:c.437T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340890.1:p.Met146Arg",
        "hgvsWellDefined": "NP_001340890.1:p.Met146Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690006"
    },
    {
      "@id": "http://reg.genome.network/allele/PA303124",
      "coordinates": [
        {
          "allele": "G",
          "end": 3324,
          "referenceAllele": "T",
          "start": 3323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.6:c.2846T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_008851.3:p.Met949Arg",
        "hgvsWellDefined": "NP_008851.3:p.Met949Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696855"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3232,
          "referenceAllele": "T",
          "start": 3231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NR_148667.2:n.3232T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704821"
    },
    {
      "@id": "http://reg.genome.network/allele/PA303125",
      "coordinates": [
        {
          "allele": "G",
          "end": 3357,
          "referenceAllele": "T",
          "start": 3356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.4:c.2879T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Met960Arg",
        "hgvsWellDefined": "NP_001159435.1:p.Met960Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713154",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674923.1:c.2879T>G"
          },
          "RefSeq": {
            "hgvs": "NM_001165963.4:c.2879T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501589.1:p.Met960Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001159435.1:p.Met960Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}