{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA349071613",
  "communityStandardTitle": [
    "NM_001165963.4(SCN1A):c.4769T>C (p.Leu1590Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2743333[alleleid]",
        "alleleId": 2743333,
        "preferredName": "NM_001165963.4(SCN1A):c.4769T>C (p.Leu1590Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2578399",
        "RCV": [
          "RCV003326175"
        ],
        "variationId": 2578399
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.166850739A>G?assembly=hg19",
        "id": "chr2:g.166850739A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.165994229A>G?assembly=hg38",
        "id": "chr2:g.165994229A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2468358829",
        "rs": 2468358829
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 165994229,
          "referenceAllele": "A",
          "start": 165994228
        }
      ],
      "hgvs": [
        "NC_000002.12:g.165994229A>G",
        "CM000664.2:g.165994229A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 166850739,
          "referenceAllele": "A",
          "start": 166850738
        }
      ],
      "hgvs": [
        "NC_000002.11:g.166850739A>G",
        "CM000664.1:g.166850739A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 166558985,
          "referenceAllele": "A",
          "start": 166558984
        }
      ],
      "hgvs": [
        "NC_000002.10:g.166558985A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 84411,
          "referenceAllele": "T",
          "start": 84410
        }
      ],
      "hgvs": [
        "NG_011906.1:g.84411T>C",
        "LRG_8:g.84411T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002054"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4912,
          "referenceAllele": "T",
          "start": 4911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000689288.1:c.*2805T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509637.1:n.*2805T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832093"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5160,
          "referenceAllele": "T",
          "start": 5159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000303395.9:c.4769T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303540.4:p.Leu1590Pro",
        "hgvsWellDefined": "ENSP00000303540.4:p.Leu1590Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745029"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4953,
          "referenceAllele": "T",
          "start": 4952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000635750.1:c.4736T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490799.1:p.Leu1579Pro",
        "hgvsWellDefined": "ENSP00000490799.1:p.Leu1579Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762613"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5038,
          "referenceAllele": "T",
          "start": 5037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000635776.1:c.4736T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490692.1:p.Leu1579Pro",
        "hgvsWellDefined": "ENSP00000490692.1:p.Leu1579Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762634"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5162,
          "referenceAllele": "T",
          "start": 5161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000636194.1:c.*2262T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490288.1:n.*2262T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762941"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1631,
          "referenceAllele": "T",
          "start": 1630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000637038.1:c.1631T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763565"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5216,
          "referenceAllele": "T",
          "start": 5215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000637988.1:c.4736T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490780.1:p.Leu1579Pro",
        "hgvsWellDefined": "ENSP00000490780.1:p.Leu1579Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764260"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4785,
          "referenceAllele": "T",
          "start": 4784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000640036.1:c.4736T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491573.1:p.Leu1579Pro",
        "hgvsWellDefined": "ENSP00000491573.1:p.Leu1579Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765301"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5009,
          "referenceAllele": "T",
          "start": 5008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000641575.1:c.4733T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492917.1:p.Leu1578Pro",
        "hgvsWellDefined": "ENSP00000492917.1:p.Leu1578Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766184"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4641,
          "referenceAllele": "T",
          "start": 4640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000641603.1:c.4487T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492945.1:p.Leu1496Pro",
        "hgvsWellDefined": "ENSP00000492945.1:p.Leu1496Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766204"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5038,
          "referenceAllele": "T",
          "start": 5037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000641996.1:c.*4323T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493054.1:n.*4323T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766485"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4988,
          "referenceAllele": "T",
          "start": 4987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000671940.1:c.*2712T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500336.1:n.*2712T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773217"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7242,
          "referenceAllele": "T",
          "start": 7241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000673490.1:n.7242T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773702"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5247,
          "referenceAllele": "T",
          "start": 5246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000674923.1:c.4769T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501589.1:p.Leu1590Pro",
        "hgvsWellDefined": "ENSP00000501589.1:p.Leu1590Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774809",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674923.1:c.4769T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001165963.4:c.4769T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501589.1:p.Leu1590Pro"
          },
          "RefSeq": {
            "hgvs": "NP_001159435.1:p.Leu1590Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5187,
          "referenceAllele": "T",
          "start": 5186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000303395.8:c.4769T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303540.4:p.Leu1590Pro",
        "hgvsWellDefined": "ENSP00000303540.4:p.Leu1590Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255312"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4754,
          "referenceAllele": "T",
          "start": 4753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000375405.7:c.4736T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364554.3:p.Leu1579Pro",
        "hgvsWellDefined": "ENSP00000364554.3:p.Leu1579Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270694"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4685,
          "referenceAllele": "T",
          "start": 4684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000409050.1:c.4685T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386312.1:p.Leu1562Pro",
        "hgvsWellDefined": "ENSP00000386312.1:p.Leu1562Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281214"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4845,
          "referenceAllele": "T",
          "start": 4844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000423058.6:c.4769T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407030.2:p.Leu1590Pro",
        "hgvsWellDefined": "ENSP00000407030.2:p.Leu1590Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287573"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 498,
          "referenceAllele": "T",
          "start": 497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000625916.1:n.498T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS406645"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826010634",
      "coordinates": [
        {
          "allele": "C",
          "end": 4787,
          "referenceAllele": "T",
          "start": 4786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.1:c.4769T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Leu1590Pro",
        "hgvsWellDefined": "NP_001159435.1:p.Leu1590Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014743"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826013599",
      "coordinates": [
        {
          "allele": "C",
          "end": 4703,
          "referenceAllele": "T",
          "start": 4702
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165964.1:c.4685T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159436.1:p.Leu1562Pro",
        "hgvsWellDefined": "NP_001159436.1:p.Leu1562Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014744"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826260202",
      "coordinates": [
        {
          "allele": "C",
          "end": 4996,
          "referenceAllele": "T",
          "start": 4995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001202435.1:c.4769T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189364.1:p.Leu1590Pro",
        "hgvsWellDefined": "NP_001189364.1:p.Leu1590Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017403"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829676205",
      "coordinates": [
        {
          "allele": "C",
          "end": 4754,
          "referenceAllele": "T",
          "start": 4753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.4:c.4736T>C",
        "LRG_8t1:c.4736T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_008851.3:p.Leu1579Pro",
        "hgvsWellDefined": "NP_008851.3:p.Leu1579Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031895"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 175,
          "endIntronDirection": "-",
          "endIntronOffset": 21383,
          "referenceAllele": "A",
          "start": 175,
          "startIntronDirection": "-",
          "startIntronOffset": 21384
        }
      ],
      "hgvs": [
        "NR_110598.1:n.176-21384A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS054761"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4953,
          "referenceAllele": "T",
          "start": 4952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511598.1:c.4769T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509900.1:p.Leu1590Pro",
        "hgvsWellDefined": "XP_011509900.1:p.Leu1590Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078859"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5168,
          "referenceAllele": "T",
          "start": 5167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511599.1:c.4769T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509901.1:p.Leu1590Pro",
        "hgvsWellDefined": "XP_011509901.1:p.Leu1590Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078860"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5044,
          "referenceAllele": "T",
          "start": 5043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511600.1:c.4769T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509902.1:p.Leu1590Pro",
        "hgvsWellDefined": "XP_011509902.1:p.Leu1590Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078861"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5163,
          "referenceAllele": "T",
          "start": 5162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511601.1:c.4769T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509903.1:p.Leu1590Pro",
        "hgvsWellDefined": "XP_011509903.1:p.Leu1590Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078862"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5076,
          "referenceAllele": "T",
          "start": 5075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511602.1:c.4769T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509904.1:p.Leu1590Pro",
        "hgvsWellDefined": "XP_011509904.1:p.Leu1590Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078863"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4950,
          "referenceAllele": "T",
          "start": 4949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511603.1:c.4766T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509905.1:p.Leu1589Pro",
        "hgvsWellDefined": "XP_011509905.1:p.Leu1589Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078864"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4920,
          "referenceAllele": "T",
          "start": 4919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511604.1:c.4736T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509906.1:p.Leu1579Pro",
        "hgvsWellDefined": "XP_011509906.1:p.Leu1579Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078865"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4917,
          "referenceAllele": "T",
          "start": 4916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511605.1:c.4733T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509907.1:p.Leu1578Pro",
        "hgvsWellDefined": "XP_011509907.1:p.Leu1578Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078866"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4869,
          "referenceAllele": "T",
          "start": 4868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511606.1:c.4685T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509908.1:p.Leu1562Pro",
        "hgvsWellDefined": "XP_011509908.1:p.Leu1562Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078867"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4671,
          "referenceAllele": "T",
          "start": 4670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511607.1:c.4487T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509909.1:p.Leu1496Pro",
        "hgvsWellDefined": "XP_011509909.1:p.Leu1496Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078868"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826010634",
      "coordinates": [
        {
          "allele": "C",
          "end": 5266,
          "referenceAllele": "T",
          "start": 5265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.2:c.4769T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Leu1590Pro",
        "hgvsWellDefined": "NP_001159435.1:p.Leu1590Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511667"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826013599",
      "coordinates": [
        {
          "allele": "C",
          "end": 5095,
          "referenceAllele": "T",
          "start": 5094
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165964.2:c.4685T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159436.1:p.Leu1562Pro",
        "hgvsWellDefined": "NP_001159436.1:p.Leu1562Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511668"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826260202",
      "coordinates": [
        {
          "allele": "C",
          "end": 5080,
          "referenceAllele": "T",
          "start": 5079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001202435.2:c.4769T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189364.1:p.Leu1590Pro",
        "hgvsWellDefined": "NP_001189364.1:p.Leu1590Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511850"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827754188",
      "coordinates": [
        {
          "allele": "C",
          "end": 5087,
          "referenceAllele": "T",
          "start": 5086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353948.1:c.4769T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340877.1:p.Leu1590Pro",
        "hgvsWellDefined": "NP_001340877.1:p.Leu1590Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522051"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827760770",
      "coordinates": [
        {
          "allele": "C",
          "end": 4955,
          "referenceAllele": "T",
          "start": 4954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353949.1:c.4736T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340878.1:p.Leu1579Pro",
        "hgvsWellDefined": "NP_001340878.1:p.Leu1579Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522052"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827767315",
      "coordinates": [
        {
          "allele": "C",
          "end": 5047,
          "referenceAllele": "T",
          "start": 5046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353950.1:c.4736T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340879.1:p.Leu1579Pro",
        "hgvsWellDefined": "NP_001340879.1:p.Leu1579Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522053"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827771572",
      "coordinates": [
        {
          "allele": "C",
          "end": 5054,
          "referenceAllele": "T",
          "start": 5053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353951.1:c.4736T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340880.1:p.Leu1579Pro",
        "hgvsWellDefined": "NP_001340880.1:p.Leu1579Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522054"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827774559",
      "coordinates": [
        {
          "allele": "C",
          "end": 5146,
          "referenceAllele": "T",
          "start": 5145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353952.1:c.4736T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340881.1:p.Leu1579Pro",
        "hgvsWellDefined": "NP_001340881.1:p.Leu1579Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522055"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827777547",
      "coordinates": [
        {
          "allele": "C",
          "end": 5143,
          "referenceAllele": "T",
          "start": 5142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353954.1:c.4733T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340883.1:p.Leu1578Pro",
        "hgvsWellDefined": "NP_001340883.1:p.Leu1578Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522056"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827780532",
      "coordinates": [
        {
          "allele": "C",
          "end": 5051,
          "referenceAllele": "T",
          "start": 5050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353955.1:c.4733T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340884.1:p.Leu1578Pro",
        "hgvsWellDefined": "NP_001340884.1:p.Leu1578Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522057"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827783505",
      "coordinates": [
        {
          "allele": "C",
          "end": 5003,
          "referenceAllele": "T",
          "start": 5002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353957.1:c.4685T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340886.1:p.Leu1562Pro",
        "hgvsWellDefined": "NP_001340886.1:p.Leu1562Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522058"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827786465",
      "coordinates": [
        {
          "allele": "C",
          "end": 4996,
          "referenceAllele": "T",
          "start": 4995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353958.1:c.4685T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340887.1:p.Leu1562Pro",
        "hgvsWellDefined": "NP_001340887.1:p.Leu1562Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522059"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827789436",
      "coordinates": [
        {
          "allele": "C",
          "end": 5092,
          "referenceAllele": "T",
          "start": 5091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353960.1:c.4682T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340889.1:p.Leu1561Pro",
        "hgvsWellDefined": "NP_001340889.1:p.Leu1561Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522060"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741866765",
      "coordinates": [
        {
          "allele": "C",
          "end": 5162,
          "referenceAllele": "T",
          "start": 5161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353961.1:c.2327T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340890.1:p.Leu776Pro",
        "hgvsWellDefined": "NP_001340890.1:p.Leu776Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522061"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829676205",
      "coordinates": [
        {
          "allele": "C",
          "end": 5233,
          "referenceAllele": "T",
          "start": 5232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.5:c.4736T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_008851.3:p.Leu1579Pro",
        "hgvsWellDefined": "NP_008851.3:p.Leu1579Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525436"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5205,
          "referenceAllele": "T",
          "start": 5204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NR_148667.1:n.5205T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531272"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5219,
          "referenceAllele": "T",
          "start": 5218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XR_001738883.1:n.5219T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589320"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5191,
          "referenceAllele": "T",
          "start": 5190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XR_001738884.1:n.5191T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589321"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826010634",
      "coordinates": [
        {
          "allele": "C",
          "end": 5247,
          "referenceAllele": "T",
          "start": 5246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.3:c.4769T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Leu1590Pro",
        "hgvsWellDefined": "NP_001159435.1:p.Leu1590Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678433"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826013599",
      "coordinates": [
        {
          "allele": "C",
          "end": 5076,
          "referenceAllele": "T",
          "start": 5075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165964.3:c.4685T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159436.1:p.Leu1562Pro",
        "hgvsWellDefined": "NP_001159436.1:p.Leu1562Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678434"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826260202",
      "coordinates": [
        {
          "allele": "C",
          "end": 5025,
          "referenceAllele": "T",
          "start": 5024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001202435.3:c.4769T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189364.1:p.Leu1590Pro",
        "hgvsWellDefined": "NP_001189364.1:p.Leu1590Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679700"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827754188",
      "coordinates": [
        {
          "allele": "C",
          "end": 5068,
          "referenceAllele": "T",
          "start": 5067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353948.2:c.4769T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340877.1:p.Leu1590Pro",
        "hgvsWellDefined": "NP_001340877.1:p.Leu1590Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689996"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827760770",
      "coordinates": [
        {
          "allele": "C",
          "end": 4900,
          "referenceAllele": "T",
          "start": 4899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353949.2:c.4736T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340878.1:p.Leu1579Pro",
        "hgvsWellDefined": "NP_001340878.1:p.Leu1579Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827767315",
      "coordinates": [
        {
          "allele": "C",
          "end": 4992,
          "referenceAllele": "T",
          "start": 4991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353950.2:c.4736T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340879.1:p.Leu1579Pro",
        "hgvsWellDefined": "NP_001340879.1:p.Leu1579Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689998"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827771572",
      "coordinates": [
        {
          "allele": "C",
          "end": 5035,
          "referenceAllele": "T",
          "start": 5034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353951.2:c.4736T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340880.1:p.Leu1579Pro",
        "hgvsWellDefined": "NP_001340880.1:p.Leu1579Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689999"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827774559",
      "coordinates": [
        {
          "allele": "C",
          "end": 5127,
          "referenceAllele": "T",
          "start": 5126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353952.2:c.4736T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340881.1:p.Leu1579Pro",
        "hgvsWellDefined": "NP_001340881.1:p.Leu1579Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690000"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827777547",
      "coordinates": [
        {
          "allele": "C",
          "end": 5124,
          "referenceAllele": "T",
          "start": 5123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353954.2:c.4733T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340883.1:p.Leu1578Pro",
        "hgvsWellDefined": "NP_001340883.1:p.Leu1578Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690001"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827780532",
      "coordinates": [
        {
          "allele": "C",
          "end": 5032,
          "referenceAllele": "T",
          "start": 5031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353955.2:c.4733T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340884.1:p.Leu1578Pro",
        "hgvsWellDefined": "NP_001340884.1:p.Leu1578Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690002"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827783505",
      "coordinates": [
        {
          "allele": "C",
          "end": 4984,
          "referenceAllele": "T",
          "start": 4983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353957.2:c.4685T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340886.1:p.Leu1562Pro",
        "hgvsWellDefined": "NP_001340886.1:p.Leu1562Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690003"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827786465",
      "coordinates": [
        {
          "allele": "C",
          "end": 4941,
          "referenceAllele": "T",
          "start": 4940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353958.2:c.4685T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340887.1:p.Leu1562Pro",
        "hgvsWellDefined": "NP_001340887.1:p.Leu1562Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690004"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827789436",
      "coordinates": [
        {
          "allele": "C",
          "end": 5073,
          "referenceAllele": "T",
          "start": 5072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353960.2:c.4682T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340889.1:p.Leu1561Pro",
        "hgvsWellDefined": "NP_001340889.1:p.Leu1561Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690005"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741866765",
      "coordinates": [
        {
          "allele": "C",
          "end": 5143,
          "referenceAllele": "T",
          "start": 5142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353961.2:c.2327T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340890.1:p.Leu776Pro",
        "hgvsWellDefined": "NP_001340890.1:p.Leu776Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690006"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829676205",
      "coordinates": [
        {
          "allele": "C",
          "end": 5214,
          "referenceAllele": "T",
          "start": 5213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.6:c.4736T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_008851.3:p.Leu1579Pro",
        "hgvsWellDefined": "NP_008851.3:p.Leu1579Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696855"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5186,
          "referenceAllele": "T",
          "start": 5185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NR_148667.2:n.5186T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704821"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826010634",
      "coordinates": [
        {
          "allele": "C",
          "end": 5247,
          "referenceAllele": "T",
          "start": 5246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.4:c.4769T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Leu1590Pro",
        "hgvsWellDefined": "NP_001159435.1:p.Leu1590Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713154",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674923.1:c.4769T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001165963.4:c.4769T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501589.1:p.Leu1590Pro"
          },
          "RefSeq": {
            "hgvs": "NP_001159435.1:p.Leu1590Pro"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}