{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA349060568",
  "communityStandardTitle": [
    "NM_001165963.4(SCN1A):c.2975T>C (p.Leu992Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=861561[alleleid]",
        "alleleId": 861561,
        "preferredName": "NM_001165963.4(SCN1A):c.2975T>C (p.Leu992Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/873449",
        "RCV": [
          "RCV001095667"
        ],
        "variationId": 873449
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.166893012A>G?assembly=hg19",
        "id": "chr2:g.166893012A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.166036502A>G?assembly=hg38",
        "id": "chr2:g.166036502A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1696400496",
        "rs": 1696400496
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 166036502,
          "referenceAllele": "A",
          "start": 166036501
        }
      ],
      "hgvs": [
        "NC_000002.12:g.166036502A>G",
        "CM000664.2:g.166036502A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 166893012,
          "referenceAllele": "A",
          "start": 166893011
        }
      ],
      "hgvs": [
        "NC_000002.11:g.166893012A>G",
        "CM000664.1:g.166893012A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 166601258,
          "referenceAllele": "A",
          "start": 166601257
        }
      ],
      "hgvs": [
        "NC_000002.10:g.166601258A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 42138,
          "referenceAllele": "T",
          "start": 42137
        }
      ],
      "hgvs": [
        "NG_011906.1:g.42138T>C",
        "LRG_8:g.42138T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002054"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3118,
          "referenceAllele": "T",
          "start": 3117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000689288.1:c.*1011T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509637.1:n.*1011T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832093"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3366,
          "referenceAllele": "T",
          "start": 3365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000303395.9:c.2975T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303540.4:p.Leu992Pro",
        "hgvsWellDefined": "ENSP00000303540.4:p.Leu992Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745029"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3159,
          "referenceAllele": "T",
          "start": 3158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000635750.1:c.2942T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490799.1:p.Leu981Pro",
        "hgvsWellDefined": "ENSP00000490799.1:p.Leu981Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762613"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3244,
          "referenceAllele": "T",
          "start": 3243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000635776.1:c.2942T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490692.1:p.Leu981Pro",
        "hgvsWellDefined": "ENSP00000490692.1:p.Leu981Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762634"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3368,
          "referenceAllele": "T",
          "start": 3367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000636194.1:c.*468T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490288.1:n.*468T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762941"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3227,
          "referenceAllele": "T",
          "start": 3226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000637968.1:n.3227T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764246"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3422,
          "referenceAllele": "T",
          "start": 3421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000637988.1:c.2942T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490780.1:p.Leu981Pro",
        "hgvsWellDefined": "ENSP00000490780.1:p.Leu981Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764260"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2991,
          "referenceAllele": "T",
          "start": 2990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000640036.1:c.2942T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491573.1:p.Leu981Pro",
        "hgvsWellDefined": "ENSP00000491573.1:p.Leu981Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765301"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3215,
          "referenceAllele": "T",
          "start": 3214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000641575.1:c.2939T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492917.1:p.Leu980Pro",
        "hgvsWellDefined": "ENSP00000492917.1:p.Leu980Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766184"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3129,
          "referenceAllele": "T",
          "start": 3128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000641603.1:c.2975T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492945.1:p.Leu992Pro",
        "hgvsWellDefined": "ENSP00000492945.1:p.Leu992Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766204"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3244,
          "referenceAllele": "T",
          "start": 3243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000641996.1:c.*2529T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493054.1:n.*2529T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766485"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3194,
          "referenceAllele": "T",
          "start": 3193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000671940.1:c.*918T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500336.1:n.*918T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773217"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5448,
          "referenceAllele": "T",
          "start": 5447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000673490.1:n.5448T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773702"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3453,
          "referenceAllele": "T",
          "start": 3452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000674923.1:c.2975T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501589.1:p.Leu992Pro",
        "hgvsWellDefined": "ENSP00000501589.1:p.Leu992Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774809",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674923.1:c.2975T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001165963.4:c.2975T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501589.1:p.Leu992Pro"
          },
          "RefSeq": {
            "hgvs": "NP_001159435.1:p.Leu992Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3393,
          "referenceAllele": "T",
          "start": 3392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000303395.8:c.2975T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303540.4:p.Leu992Pro",
        "hgvsWellDefined": "ENSP00000303540.4:p.Leu992Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255312"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2960,
          "referenceAllele": "T",
          "start": 2959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000375405.7:c.2942T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364554.3:p.Leu981Pro",
        "hgvsWellDefined": "ENSP00000364554.3:p.Leu981Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270694"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2891,
          "referenceAllele": "T",
          "start": 2890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000409050.1:c.2891T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386312.1:p.Leu964Pro",
        "hgvsWellDefined": "ENSP00000386312.1:p.Leu964Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281214"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3051,
          "referenceAllele": "T",
          "start": 3050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000423058.6:c.2975T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407030.2:p.Leu992Pro",
        "hgvsWellDefined": "ENSP00000407030.2:p.Leu992Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287573"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826009841",
      "coordinates": [
        {
          "allele": "C",
          "end": 2993,
          "referenceAllele": "T",
          "start": 2992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.1:c.2975T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Leu992Pro",
        "hgvsWellDefined": "NP_001159435.1:p.Leu992Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014743"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826012707",
      "coordinates": [
        {
          "allele": "C",
          "end": 2909,
          "referenceAllele": "T",
          "start": 2908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165964.1:c.2891T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159436.1:p.Leu964Pro",
        "hgvsWellDefined": "NP_001159436.1:p.Leu964Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014744"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826259313",
      "coordinates": [
        {
          "allele": "C",
          "end": 3202,
          "referenceAllele": "T",
          "start": 3201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001202435.1:c.2975T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189364.1:p.Leu992Pro",
        "hgvsWellDefined": "NP_001189364.1:p.Leu992Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017403"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829675430",
      "coordinates": [
        {
          "allele": "C",
          "end": 2960,
          "referenceAllele": "T",
          "start": 2959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.4:c.2942T>C",
        "LRG_8t1:c.2942T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_008851.3:p.Leu981Pro",
        "hgvsWellDefined": "NP_008851.3:p.Leu981Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031895"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3159,
          "referenceAllele": "T",
          "start": 3158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511598.1:c.2975T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509900.1:p.Leu992Pro",
        "hgvsWellDefined": "XP_011509900.1:p.Leu992Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078859"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3374,
          "referenceAllele": "T",
          "start": 3373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511599.1:c.2975T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509901.1:p.Leu992Pro",
        "hgvsWellDefined": "XP_011509901.1:p.Leu992Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078860"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3250,
          "referenceAllele": "T",
          "start": 3249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511600.1:c.2975T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509902.1:p.Leu992Pro",
        "hgvsWellDefined": "XP_011509902.1:p.Leu992Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078861"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3369,
          "referenceAllele": "T",
          "start": 3368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511601.1:c.2975T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509903.1:p.Leu992Pro",
        "hgvsWellDefined": "XP_011509903.1:p.Leu992Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078862"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3282,
          "referenceAllele": "T",
          "start": 3281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511602.1:c.2975T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509904.1:p.Leu992Pro",
        "hgvsWellDefined": "XP_011509904.1:p.Leu992Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078863"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3156,
          "referenceAllele": "T",
          "start": 3155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511603.1:c.2972T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509905.1:p.Leu991Pro",
        "hgvsWellDefined": "XP_011509905.1:p.Leu991Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078864"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3126,
          "referenceAllele": "T",
          "start": 3125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511604.1:c.2942T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509906.1:p.Leu981Pro",
        "hgvsWellDefined": "XP_011509906.1:p.Leu981Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078865"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3123,
          "referenceAllele": "T",
          "start": 3122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511605.1:c.2939T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509907.1:p.Leu980Pro",
        "hgvsWellDefined": "XP_011509907.1:p.Leu980Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078866"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3075,
          "referenceAllele": "T",
          "start": 3074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511606.1:c.2891T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509908.1:p.Leu964Pro",
        "hgvsWellDefined": "XP_011509908.1:p.Leu964Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078867"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3159,
          "referenceAllele": "T",
          "start": 3158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511607.1:c.2975T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509909.1:p.Leu992Pro",
        "hgvsWellDefined": "XP_011509909.1:p.Leu992Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078868"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3159,
          "referenceAllele": "T",
          "start": 3158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XR_922981.1:n.3159T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS120043"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826009841",
      "coordinates": [
        {
          "allele": "C",
          "end": 3472,
          "referenceAllele": "T",
          "start": 3471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.2:c.2975T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Leu992Pro",
        "hgvsWellDefined": "NP_001159435.1:p.Leu992Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511667"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826012707",
      "coordinates": [
        {
          "allele": "C",
          "end": 3301,
          "referenceAllele": "T",
          "start": 3300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165964.2:c.2891T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159436.1:p.Leu964Pro",
        "hgvsWellDefined": "NP_001159436.1:p.Leu964Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511668"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826259313",
      "coordinates": [
        {
          "allele": "C",
          "end": 3286,
          "referenceAllele": "T",
          "start": 3285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001202435.2:c.2975T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189364.1:p.Leu992Pro",
        "hgvsWellDefined": "NP_001189364.1:p.Leu992Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511850"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139740451",
      "coordinates": [
        {
          "allele": "C",
          "end": 3293,
          "referenceAllele": "T",
          "start": 3292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353948.1:c.2975T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340877.1:p.Leu992Pro",
        "hgvsWellDefined": "NP_001340877.1:p.Leu992Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522051"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827758779",
      "coordinates": [
        {
          "allele": "C",
          "end": 3161,
          "referenceAllele": "T",
          "start": 3160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353949.1:c.2942T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340878.1:p.Leu981Pro",
        "hgvsWellDefined": "NP_001340878.1:p.Leu981Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522052"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827765337",
      "coordinates": [
        {
          "allele": "C",
          "end": 3253,
          "referenceAllele": "T",
          "start": 3252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353950.1:c.2942T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340879.1:p.Leu981Pro",
        "hgvsWellDefined": "NP_001340879.1:p.Leu981Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522053"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827770679",
      "coordinates": [
        {
          "allele": "C",
          "end": 3260,
          "referenceAllele": "T",
          "start": 3259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353951.1:c.2942T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340880.1:p.Leu981Pro",
        "hgvsWellDefined": "NP_001340880.1:p.Leu981Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522054"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827773667",
      "coordinates": [
        {
          "allele": "C",
          "end": 3352,
          "referenceAllele": "T",
          "start": 3351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353952.1:c.2942T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340881.1:p.Leu981Pro",
        "hgvsWellDefined": "NP_001340881.1:p.Leu981Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522055"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827776654",
      "coordinates": [
        {
          "allele": "C",
          "end": 3349,
          "referenceAllele": "T",
          "start": 3348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353954.1:c.2939T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340883.1:p.Leu980Pro",
        "hgvsWellDefined": "NP_001340883.1:p.Leu980Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522056"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827779639",
      "coordinates": [
        {
          "allele": "C",
          "end": 3257,
          "referenceAllele": "T",
          "start": 3256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353955.1:c.2939T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340884.1:p.Leu980Pro",
        "hgvsWellDefined": "NP_001340884.1:p.Leu980Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522057"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827782612",
      "coordinates": [
        {
          "allele": "C",
          "end": 3209,
          "referenceAllele": "T",
          "start": 3208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353957.1:c.2891T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340886.1:p.Leu964Pro",
        "hgvsWellDefined": "NP_001340886.1:p.Leu964Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522058"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827785582",
      "coordinates": [
        {
          "allele": "C",
          "end": 3202,
          "referenceAllele": "T",
          "start": 3201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353958.1:c.2891T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340887.1:p.Leu964Pro",
        "hgvsWellDefined": "NP_001340887.1:p.Leu964Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522059"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827788542",
      "coordinates": [
        {
          "allele": "C",
          "end": 3298,
          "referenceAllele": "T",
          "start": 3297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353960.1:c.2888T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340889.1:p.Leu963Pro",
        "hgvsWellDefined": "NP_001340889.1:p.Leu963Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522060"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827790389",
      "coordinates": [
        {
          "allele": "C",
          "end": 3368,
          "referenceAllele": "T",
          "start": 3367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353961.1:c.533T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340890.1:p.Leu178Pro",
        "hgvsWellDefined": "NP_001340890.1:p.Leu178Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522061"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829675430",
      "coordinates": [
        {
          "allele": "C",
          "end": 3439,
          "referenceAllele": "T",
          "start": 3438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.5:c.2942T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_008851.3:p.Leu981Pro",
        "hgvsWellDefined": "NP_008851.3:p.Leu981Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525436"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3347,
          "referenceAllele": "T",
          "start": 3346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NR_148667.1:n.3347T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531272"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3361,
          "referenceAllele": "T",
          "start": 3360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XR_001738883.1:n.3361T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589320"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3333,
          "referenceAllele": "T",
          "start": 3332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XR_001738884.1:n.3333T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589321"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826009841",
      "coordinates": [
        {
          "allele": "C",
          "end": 3453,
          "referenceAllele": "T",
          "start": 3452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.3:c.2975T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Leu992Pro",
        "hgvsWellDefined": "NP_001159435.1:p.Leu992Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678433"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826012707",
      "coordinates": [
        {
          "allele": "C",
          "end": 3282,
          "referenceAllele": "T",
          "start": 3281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165964.3:c.2891T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159436.1:p.Leu964Pro",
        "hgvsWellDefined": "NP_001159436.1:p.Leu964Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678434"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826259313",
      "coordinates": [
        {
          "allele": "C",
          "end": 3231,
          "referenceAllele": "T",
          "start": 3230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001202435.3:c.2975T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189364.1:p.Leu992Pro",
        "hgvsWellDefined": "NP_001189364.1:p.Leu992Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679700"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139740451",
      "coordinates": [
        {
          "allele": "C",
          "end": 3274,
          "referenceAllele": "T",
          "start": 3273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353948.2:c.2975T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340877.1:p.Leu992Pro",
        "hgvsWellDefined": "NP_001340877.1:p.Leu992Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689996"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827758779",
      "coordinates": [
        {
          "allele": "C",
          "end": 3106,
          "referenceAllele": "T",
          "start": 3105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353949.2:c.2942T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340878.1:p.Leu981Pro",
        "hgvsWellDefined": "NP_001340878.1:p.Leu981Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827765337",
      "coordinates": [
        {
          "allele": "C",
          "end": 3198,
          "referenceAllele": "T",
          "start": 3197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353950.2:c.2942T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340879.1:p.Leu981Pro",
        "hgvsWellDefined": "NP_001340879.1:p.Leu981Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689998"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827770679",
      "coordinates": [
        {
          "allele": "C",
          "end": 3241,
          "referenceAllele": "T",
          "start": 3240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353951.2:c.2942T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340880.1:p.Leu981Pro",
        "hgvsWellDefined": "NP_001340880.1:p.Leu981Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689999"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827773667",
      "coordinates": [
        {
          "allele": "C",
          "end": 3333,
          "referenceAllele": "T",
          "start": 3332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353952.2:c.2942T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340881.1:p.Leu981Pro",
        "hgvsWellDefined": "NP_001340881.1:p.Leu981Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690000"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827776654",
      "coordinates": [
        {
          "allele": "C",
          "end": 3330,
          "referenceAllele": "T",
          "start": 3329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353954.2:c.2939T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340883.1:p.Leu980Pro",
        "hgvsWellDefined": "NP_001340883.1:p.Leu980Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690001"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827779639",
      "coordinates": [
        {
          "allele": "C",
          "end": 3238,
          "referenceAllele": "T",
          "start": 3237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353955.2:c.2939T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340884.1:p.Leu980Pro",
        "hgvsWellDefined": "NP_001340884.1:p.Leu980Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690002"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827782612",
      "coordinates": [
        {
          "allele": "C",
          "end": 3190,
          "referenceAllele": "T",
          "start": 3189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353957.2:c.2891T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340886.1:p.Leu964Pro",
        "hgvsWellDefined": "NP_001340886.1:p.Leu964Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690003"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827785582",
      "coordinates": [
        {
          "allele": "C",
          "end": 3147,
          "referenceAllele": "T",
          "start": 3146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353958.2:c.2891T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340887.1:p.Leu964Pro",
        "hgvsWellDefined": "NP_001340887.1:p.Leu964Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690004"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827788542",
      "coordinates": [
        {
          "allele": "C",
          "end": 3279,
          "referenceAllele": "T",
          "start": 3278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353960.2:c.2888T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340889.1:p.Leu963Pro",
        "hgvsWellDefined": "NP_001340889.1:p.Leu963Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690005"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827790389",
      "coordinates": [
        {
          "allele": "C",
          "end": 3349,
          "referenceAllele": "T",
          "start": 3348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353961.2:c.533T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340890.1:p.Leu178Pro",
        "hgvsWellDefined": "NP_001340890.1:p.Leu178Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690006"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829675430",
      "coordinates": [
        {
          "allele": "C",
          "end": 3420,
          "referenceAllele": "T",
          "start": 3419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.6:c.2942T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_008851.3:p.Leu981Pro",
        "hgvsWellDefined": "NP_008851.3:p.Leu981Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696855"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3328,
          "referenceAllele": "T",
          "start": 3327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NR_148667.2:n.3328T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704821"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826009841",
      "coordinates": [
        {
          "allele": "C",
          "end": 3453,
          "referenceAllele": "T",
          "start": 3452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.4:c.2975T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Leu992Pro",
        "hgvsWellDefined": "NP_001159435.1:p.Leu992Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713154",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674923.1:c.2975T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001165963.4:c.2975T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501589.1:p.Leu992Pro"
          },
          "RefSeq": {
            "hgvs": "NP_001159435.1:p.Leu992Pro"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}