{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA349072336",
  "communityStandardTitle": [
    "NM_001165963.4(SCN1A):c.4601T>A (p.Val1534Asp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1086978[alleleid]",
        "alleleId": 1086978,
        "preferredName": "NM_001165963.4(SCN1A):c.4601T>A (p.Val1534Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1098276",
        "RCV": [
          "RCV001420146",
          "RCV001865907"
        ],
        "variationId": 1098276
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.166850907A>T?assembly=hg19",
        "id": "chr2:g.166850907A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.165994397A>T?assembly=hg38",
        "id": "chr2:g.165994397A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2105449751",
        "rs": 2105449751
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 165994397,
          "referenceAllele": "A",
          "start": 165994396
        }
      ],
      "hgvs": [
        "NC_000002.12:g.165994397A>T",
        "CM000664.2:g.165994397A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 166850907,
          "referenceAllele": "A",
          "start": 166850906
        }
      ],
      "hgvs": [
        "NC_000002.11:g.166850907A>T",
        "CM000664.1:g.166850907A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 166559153,
          "referenceAllele": "A",
          "start": 166559152
        }
      ],
      "hgvs": [
        "NC_000002.10:g.166559153A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 84243,
          "referenceAllele": "T",
          "start": 84242
        }
      ],
      "hgvs": [
        "NG_011906.1:g.84243T>A",
        "LRG_8:g.84243T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002054"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4744,
          "referenceAllele": "T",
          "start": 4743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000689288.1:c.*2637T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509637.1:n.*2637T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832093"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4992,
          "referenceAllele": "T",
          "start": 4991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000303395.9:c.4601T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303540.4:p.Val1534Asp",
        "hgvsWellDefined": "ENSP00000303540.4:p.Val1534Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745029"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4785,
          "referenceAllele": "T",
          "start": 4784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000635750.1:c.4568T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490799.1:p.Val1523Asp",
        "hgvsWellDefined": "ENSP00000490799.1:p.Val1523Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762613"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4870,
          "referenceAllele": "T",
          "start": 4869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000635776.1:c.4568T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490692.1:p.Val1523Asp",
        "hgvsWellDefined": "ENSP00000490692.1:p.Val1523Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762634"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4994,
          "referenceAllele": "T",
          "start": 4993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000636194.1:c.*2094T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490288.1:n.*2094T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762941"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1463,
          "referenceAllele": "T",
          "start": 1462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000637038.1:c.1463T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763565"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5048,
          "referenceAllele": "T",
          "start": 5047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000637988.1:c.4568T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490780.1:p.Val1523Asp",
        "hgvsWellDefined": "ENSP00000490780.1:p.Val1523Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764260"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4617,
          "referenceAllele": "T",
          "start": 4616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000640036.1:c.4568T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491573.1:p.Val1523Asp",
        "hgvsWellDefined": "ENSP00000491573.1:p.Val1523Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765301"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4841,
          "referenceAllele": "T",
          "start": 4840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000641575.1:c.4565T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492917.1:p.Val1522Asp",
        "hgvsWellDefined": "ENSP00000492917.1:p.Val1522Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766184"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4473,
          "referenceAllele": "T",
          "start": 4472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000641603.1:c.4319T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492945.1:p.Val1440Asp",
        "hgvsWellDefined": "ENSP00000492945.1:p.Val1440Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766204"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4870,
          "referenceAllele": "T",
          "start": 4869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000641996.1:c.*4155T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493054.1:n.*4155T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766485"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4820,
          "referenceAllele": "T",
          "start": 4819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000671940.1:c.*2544T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500336.1:n.*2544T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773217"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7074,
          "referenceAllele": "T",
          "start": 7073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000673490.1:n.7074T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773702"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5079,
          "referenceAllele": "T",
          "start": 5078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000674923.1:c.4601T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501589.1:p.Val1534Asp",
        "hgvsWellDefined": "ENSP00000501589.1:p.Val1534Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774809",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674923.1:c.4601T>A"
          },
          "RefSeq": {
            "hgvs": "NM_001165963.4:c.4601T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501589.1:p.Val1534Asp"
          },
          "RefSeq": {
            "hgvs": "NP_001159435.1:p.Val1534Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5019,
          "referenceAllele": "T",
          "start": 5018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000303395.8:c.4601T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303540.4:p.Val1534Asp",
        "hgvsWellDefined": "ENSP00000303540.4:p.Val1534Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255312"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4586,
          "referenceAllele": "T",
          "start": 4585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000375405.7:c.4568T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364554.3:p.Val1523Asp",
        "hgvsWellDefined": "ENSP00000364554.3:p.Val1523Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270694"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4517,
          "referenceAllele": "T",
          "start": 4516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000409050.1:c.4517T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386312.1:p.Val1506Asp",
        "hgvsWellDefined": "ENSP00000386312.1:p.Val1506Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281214"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4677,
          "referenceAllele": "T",
          "start": 4676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000423058.6:c.4601T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407030.2:p.Val1534Asp",
        "hgvsWellDefined": "ENSP00000407030.2:p.Val1534Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287573"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 330,
          "referenceAllele": "T",
          "start": 329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000625916.1:n.330T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS406645"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826010548",
      "coordinates": [
        {
          "allele": "A",
          "end": 4619,
          "referenceAllele": "T",
          "start": 4618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.1:c.4601T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Val1534Asp",
        "hgvsWellDefined": "NP_001159435.1:p.Val1534Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014743"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826013524",
      "coordinates": [
        {
          "allele": "A",
          "end": 4535,
          "referenceAllele": "T",
          "start": 4534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165964.1:c.4517T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159436.1:p.Val1506Asp",
        "hgvsWellDefined": "NP_001159436.1:p.Val1506Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014744"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826260127",
      "coordinates": [
        {
          "allele": "A",
          "end": 4828,
          "referenceAllele": "T",
          "start": 4827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001202435.1:c.4601T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189364.1:p.Val1534Asp",
        "hgvsWellDefined": "NP_001189364.1:p.Val1534Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017403"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829676138",
      "coordinates": [
        {
          "allele": "A",
          "end": 4586,
          "referenceAllele": "T",
          "start": 4585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.4:c.4568T>A",
        "LRG_8t1:c.4568T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_008851.3:p.Val1523Asp",
        "hgvsWellDefined": "NP_008851.3:p.Val1523Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031895"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 175,
          "endIntronDirection": "-",
          "endIntronOffset": 21215,
          "referenceAllele": "A",
          "start": 175,
          "startIntronDirection": "-",
          "startIntronOffset": 21216
        }
      ],
      "hgvs": [
        "NR_110598.1:n.176-21216A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS054761"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4785,
          "referenceAllele": "T",
          "start": 4784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511598.1:c.4601T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509900.1:p.Val1534Asp",
        "hgvsWellDefined": "XP_011509900.1:p.Val1534Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078859"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5000,
          "referenceAllele": "T",
          "start": 4999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511599.1:c.4601T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509901.1:p.Val1534Asp",
        "hgvsWellDefined": "XP_011509901.1:p.Val1534Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078860"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4876,
          "referenceAllele": "T",
          "start": 4875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511600.1:c.4601T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509902.1:p.Val1534Asp",
        "hgvsWellDefined": "XP_011509902.1:p.Val1534Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078861"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4995,
          "referenceAllele": "T",
          "start": 4994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511601.1:c.4601T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509903.1:p.Val1534Asp",
        "hgvsWellDefined": "XP_011509903.1:p.Val1534Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078862"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4908,
          "referenceAllele": "T",
          "start": 4907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511602.1:c.4601T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509904.1:p.Val1534Asp",
        "hgvsWellDefined": "XP_011509904.1:p.Val1534Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078863"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4782,
          "referenceAllele": "T",
          "start": 4781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511603.1:c.4598T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509905.1:p.Val1533Asp",
        "hgvsWellDefined": "XP_011509905.1:p.Val1533Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078864"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4752,
          "referenceAllele": "T",
          "start": 4751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511604.1:c.4568T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509906.1:p.Val1523Asp",
        "hgvsWellDefined": "XP_011509906.1:p.Val1523Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078865"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4749,
          "referenceAllele": "T",
          "start": 4748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511605.1:c.4565T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509907.1:p.Val1522Asp",
        "hgvsWellDefined": "XP_011509907.1:p.Val1522Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078866"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4701,
          "referenceAllele": "T",
          "start": 4700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511606.1:c.4517T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509908.1:p.Val1506Asp",
        "hgvsWellDefined": "XP_011509908.1:p.Val1506Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078867"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4503,
          "referenceAllele": "T",
          "start": 4502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511607.1:c.4319T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509909.1:p.Val1440Asp",
        "hgvsWellDefined": "XP_011509909.1:p.Val1440Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078868"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826010548",
      "coordinates": [
        {
          "allele": "A",
          "end": 5098,
          "referenceAllele": "T",
          "start": 5097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.2:c.4601T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Val1534Asp",
        "hgvsWellDefined": "NP_001159435.1:p.Val1534Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511667"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826013524",
      "coordinates": [
        {
          "allele": "A",
          "end": 4927,
          "referenceAllele": "T",
          "start": 4926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165964.2:c.4517T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159436.1:p.Val1506Asp",
        "hgvsWellDefined": "NP_001159436.1:p.Val1506Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511668"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826260127",
      "coordinates": [
        {
          "allele": "A",
          "end": 4912,
          "referenceAllele": "T",
          "start": 4911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001202435.2:c.4601T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189364.1:p.Val1534Asp",
        "hgvsWellDefined": "NP_001189364.1:p.Val1534Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511850"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827754013",
      "coordinates": [
        {
          "allele": "A",
          "end": 4919,
          "referenceAllele": "T",
          "start": 4918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353948.1:c.4601T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340877.1:p.Val1534Asp",
        "hgvsWellDefined": "NP_001340877.1:p.Val1534Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522051"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827760607",
      "coordinates": [
        {
          "allele": "A",
          "end": 4787,
          "referenceAllele": "T",
          "start": 4786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353949.1:c.4568T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340878.1:p.Val1523Asp",
        "hgvsWellDefined": "NP_001340878.1:p.Val1523Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522052"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827767171",
      "coordinates": [
        {
          "allele": "A",
          "end": 4879,
          "referenceAllele": "T",
          "start": 4878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353950.1:c.4568T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340879.1:p.Val1523Asp",
        "hgvsWellDefined": "NP_001340879.1:p.Val1523Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522053"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827771497",
      "coordinates": [
        {
          "allele": "A",
          "end": 4886,
          "referenceAllele": "T",
          "start": 4885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353951.1:c.4568T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340880.1:p.Val1523Asp",
        "hgvsWellDefined": "NP_001340880.1:p.Val1523Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522054"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827774485",
      "coordinates": [
        {
          "allele": "A",
          "end": 4978,
          "referenceAllele": "T",
          "start": 4977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353952.1:c.4568T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340881.1:p.Val1523Asp",
        "hgvsWellDefined": "NP_001340881.1:p.Val1523Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522055"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827777471",
      "coordinates": [
        {
          "allele": "A",
          "end": 4975,
          "referenceAllele": "T",
          "start": 4974
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353954.1:c.4565T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340883.1:p.Val1522Asp",
        "hgvsWellDefined": "NP_001340883.1:p.Val1522Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522056"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827780458",
      "coordinates": [
        {
          "allele": "A",
          "end": 4883,
          "referenceAllele": "T",
          "start": 4882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353955.1:c.4565T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340884.1:p.Val1522Asp",
        "hgvsWellDefined": "NP_001340884.1:p.Val1522Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522057"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827783429",
      "coordinates": [
        {
          "allele": "A",
          "end": 4835,
          "referenceAllele": "T",
          "start": 4834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353957.1:c.4517T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340886.1:p.Val1506Asp",
        "hgvsWellDefined": "NP_001340886.1:p.Val1506Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522058"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827786391",
      "coordinates": [
        {
          "allele": "A",
          "end": 4828,
          "referenceAllele": "T",
          "start": 4827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353958.1:c.4517T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340887.1:p.Val1506Asp",
        "hgvsWellDefined": "NP_001340887.1:p.Val1506Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522059"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827789362",
      "coordinates": [
        {
          "allele": "A",
          "end": 4924,
          "referenceAllele": "T",
          "start": 4923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353960.1:c.4514T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340889.1:p.Val1505Asp",
        "hgvsWellDefined": "NP_001340889.1:p.Val1505Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522060"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499251724",
      "coordinates": [
        {
          "allele": "A",
          "end": 4994,
          "referenceAllele": "T",
          "start": 4993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353961.1:c.2159T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340890.1:p.Val720Asp",
        "hgvsWellDefined": "NP_001340890.1:p.Val720Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522061"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829676138",
      "coordinates": [
        {
          "allele": "A",
          "end": 5065,
          "referenceAllele": "T",
          "start": 5064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.5:c.4568T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_008851.3:p.Val1523Asp",
        "hgvsWellDefined": "NP_008851.3:p.Val1523Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525436"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5037,
          "referenceAllele": "T",
          "start": 5036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NR_148667.1:n.5037T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531272"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5051,
          "referenceAllele": "T",
          "start": 5050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XR_001738883.1:n.5051T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589320"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5023,
          "referenceAllele": "T",
          "start": 5022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XR_001738884.1:n.5023T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589321"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826010548",
      "coordinates": [
        {
          "allele": "A",
          "end": 5079,
          "referenceAllele": "T",
          "start": 5078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.3:c.4601T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Val1534Asp",
        "hgvsWellDefined": "NP_001159435.1:p.Val1534Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678433"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826013524",
      "coordinates": [
        {
          "allele": "A",
          "end": 4908,
          "referenceAllele": "T",
          "start": 4907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165964.3:c.4517T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159436.1:p.Val1506Asp",
        "hgvsWellDefined": "NP_001159436.1:p.Val1506Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678434"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826260127",
      "coordinates": [
        {
          "allele": "A",
          "end": 4857,
          "referenceAllele": "T",
          "start": 4856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001202435.3:c.4601T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189364.1:p.Val1534Asp",
        "hgvsWellDefined": "NP_001189364.1:p.Val1534Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679700"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827754013",
      "coordinates": [
        {
          "allele": "A",
          "end": 4900,
          "referenceAllele": "T",
          "start": 4899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353948.2:c.4601T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340877.1:p.Val1534Asp",
        "hgvsWellDefined": "NP_001340877.1:p.Val1534Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689996"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827760607",
      "coordinates": [
        {
          "allele": "A",
          "end": 4732,
          "referenceAllele": "T",
          "start": 4731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353949.2:c.4568T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340878.1:p.Val1523Asp",
        "hgvsWellDefined": "NP_001340878.1:p.Val1523Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827767171",
      "coordinates": [
        {
          "allele": "A",
          "end": 4824,
          "referenceAllele": "T",
          "start": 4823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353950.2:c.4568T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340879.1:p.Val1523Asp",
        "hgvsWellDefined": "NP_001340879.1:p.Val1523Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689998"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827771497",
      "coordinates": [
        {
          "allele": "A",
          "end": 4867,
          "referenceAllele": "T",
          "start": 4866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353951.2:c.4568T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340880.1:p.Val1523Asp",
        "hgvsWellDefined": "NP_001340880.1:p.Val1523Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689999"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827774485",
      "coordinates": [
        {
          "allele": "A",
          "end": 4959,
          "referenceAllele": "T",
          "start": 4958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353952.2:c.4568T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340881.1:p.Val1523Asp",
        "hgvsWellDefined": "NP_001340881.1:p.Val1523Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690000"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827777471",
      "coordinates": [
        {
          "allele": "A",
          "end": 4956,
          "referenceAllele": "T",
          "start": 4955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353954.2:c.4565T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340883.1:p.Val1522Asp",
        "hgvsWellDefined": "NP_001340883.1:p.Val1522Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690001"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827780458",
      "coordinates": [
        {
          "allele": "A",
          "end": 4864,
          "referenceAllele": "T",
          "start": 4863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353955.2:c.4565T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340884.1:p.Val1522Asp",
        "hgvsWellDefined": "NP_001340884.1:p.Val1522Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690002"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827783429",
      "coordinates": [
        {
          "allele": "A",
          "end": 4816,
          "referenceAllele": "T",
          "start": 4815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353957.2:c.4517T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340886.1:p.Val1506Asp",
        "hgvsWellDefined": "NP_001340886.1:p.Val1506Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690003"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827786391",
      "coordinates": [
        {
          "allele": "A",
          "end": 4773,
          "referenceAllele": "T",
          "start": 4772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353958.2:c.4517T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340887.1:p.Val1506Asp",
        "hgvsWellDefined": "NP_001340887.1:p.Val1506Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690004"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827789362",
      "coordinates": [
        {
          "allele": "A",
          "end": 4905,
          "referenceAllele": "T",
          "start": 4904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353960.2:c.4514T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340889.1:p.Val1505Asp",
        "hgvsWellDefined": "NP_001340889.1:p.Val1505Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690005"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499251724",
      "coordinates": [
        {
          "allele": "A",
          "end": 4975,
          "referenceAllele": "T",
          "start": 4974
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353961.2:c.2159T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340890.1:p.Val720Asp",
        "hgvsWellDefined": "NP_001340890.1:p.Val720Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690006"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829676138",
      "coordinates": [
        {
          "allele": "A",
          "end": 5046,
          "referenceAllele": "T",
          "start": 5045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.6:c.4568T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_008851.3:p.Val1523Asp",
        "hgvsWellDefined": "NP_008851.3:p.Val1523Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696855"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5018,
          "referenceAllele": "T",
          "start": 5017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NR_148667.2:n.5018T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704821"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826010548",
      "coordinates": [
        {
          "allele": "A",
          "end": 5079,
          "referenceAllele": "T",
          "start": 5078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.4:c.4601T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Val1534Asp",
        "hgvsWellDefined": "NP_001159435.1:p.Val1534Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713154",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674923.1:c.4601T>A"
          },
          "RefSeq": {
            "hgvs": "NM_001165963.4:c.4601T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501589.1:p.Val1534Asp"
          },
          "RefSeq": {
            "hgvs": "NP_001159435.1:p.Val1534Asp"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}