{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA349070729",
  "communityStandardTitle": [
    "NM_001165963.4(SCN1A):c.4862T>C (p.Leu1621Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=790088[alleleid]",
        "alleleId": 790088,
        "preferredName": "NM_001165963.4(SCN1A):c.4862T>C (p.Leu1621Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/801791",
        "RCV": [
          "RCV000986872",
          "RCV001206932"
        ],
        "variationId": 801791
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.166848923A>G?assembly=hg19",
        "id": "chr2:g.166848923A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.165992413A>G?assembly=hg38",
        "id": "chr2:g.165992413A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1573953706",
        "rs": 1573953706
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 165992413,
          "referenceAllele": "A",
          "start": 165992412
        }
      ],
      "hgvs": [
        "NC_000002.12:g.165992413A>G",
        "CM000664.2:g.165992413A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 166848923,
          "referenceAllele": "A",
          "start": 166848922
        }
      ],
      "hgvs": [
        "NC_000002.11:g.166848923A>G",
        "CM000664.1:g.166848923A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 166557169,
          "referenceAllele": "A",
          "start": 166557168
        }
      ],
      "hgvs": [
        "NC_000002.10:g.166557169A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 86227,
          "referenceAllele": "T",
          "start": 86226
        }
      ],
      "hgvs": [
        "NG_011906.1:g.86227T>C",
        "LRG_8:g.86227T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002054"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5005,
          "referenceAllele": "T",
          "start": 5004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000689288.1:c.*2898T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509637.1:n.*2898T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832093"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5253,
          "referenceAllele": "T",
          "start": 5252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000303395.9:c.4862T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303540.4:p.Leu1621Pro",
        "hgvsWellDefined": "ENSP00000303540.4:p.Leu1621Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745029"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5046,
          "referenceAllele": "T",
          "start": 5045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000635750.1:c.4829T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490799.1:p.Leu1610Pro",
        "hgvsWellDefined": "ENSP00000490799.1:p.Leu1610Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762613"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6854,
          "referenceAllele": "T",
          "start": 6853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000635776.1:c.*1695T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490692.1:n.*1695T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762634"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5255,
          "referenceAllele": "T",
          "start": 5254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000636194.1:c.*2355T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490288.1:n.*2355T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762941"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1724,
          "referenceAllele": "T",
          "start": 1723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000637038.1:c.1724T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763565"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5309,
          "referenceAllele": "T",
          "start": 5308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000637988.1:c.4829T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490780.1:p.Leu1610Pro",
        "hgvsWellDefined": "ENSP00000490780.1:p.Leu1610Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764260"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4878,
          "referenceAllele": "T",
          "start": 4877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000640036.1:c.4829T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491573.1:p.Leu1610Pro",
        "hgvsWellDefined": "ENSP00000491573.1:p.Leu1610Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765301"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5102,
          "referenceAllele": "T",
          "start": 5101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000641575.1:c.4826T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492917.1:p.Leu1609Pro",
        "hgvsWellDefined": "ENSP00000492917.1:p.Leu1609Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766184"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4734,
          "referenceAllele": "T",
          "start": 4733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000641603.1:c.4580T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492945.1:p.Leu1527Pro",
        "hgvsWellDefined": "ENSP00000492945.1:p.Leu1527Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766204"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5131,
          "referenceAllele": "T",
          "start": 5130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000641996.1:c.*4416T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493054.1:n.*4416T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766485"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5081,
          "referenceAllele": "T",
          "start": 5080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000671940.1:c.*2805T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500336.1:n.*2805T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773217"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7335,
          "referenceAllele": "T",
          "start": 7334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000673490.1:n.7335T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773702"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5340,
          "referenceAllele": "T",
          "start": 5339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000674923.1:c.4862T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501589.1:p.Leu1621Pro",
        "hgvsWellDefined": "ENSP00000501589.1:p.Leu1621Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774809",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674923.1:c.4862T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001165963.4:c.4862T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501589.1:p.Leu1621Pro"
          },
          "RefSeq": {
            "hgvs": "NP_001159435.1:p.Leu1621Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5280,
          "referenceAllele": "T",
          "start": 5279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000303395.8:c.4862T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303540.4:p.Leu1621Pro",
        "hgvsWellDefined": "ENSP00000303540.4:p.Leu1621Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255312"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4847,
          "referenceAllele": "T",
          "start": 4846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000375405.7:c.4829T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364554.3:p.Leu1610Pro",
        "hgvsWellDefined": "ENSP00000364554.3:p.Leu1610Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270694"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4778,
          "referenceAllele": "T",
          "start": 4777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000409050.1:c.4778T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386312.1:p.Leu1593Pro",
        "hgvsWellDefined": "ENSP00000386312.1:p.Leu1593Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281214"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4938,
          "referenceAllele": "T",
          "start": 4937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000423058.6:c.4862T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407030.2:p.Leu1621Pro",
        "hgvsWellDefined": "ENSP00000407030.2:p.Leu1621Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287573"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826010673",
      "coordinates": [
        {
          "allele": "C",
          "end": 4880,
          "referenceAllele": "T",
          "start": 4879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.1:c.4862T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Leu1621Pro",
        "hgvsWellDefined": "NP_001159435.1:p.Leu1621Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014743"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826013644",
      "coordinates": [
        {
          "allele": "C",
          "end": 4796,
          "referenceAllele": "T",
          "start": 4795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165964.1:c.4778T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159436.1:p.Leu1593Pro",
        "hgvsWellDefined": "NP_001159436.1:p.Leu1593Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014744"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826260245",
      "coordinates": [
        {
          "allele": "C",
          "end": 5089,
          "referenceAllele": "T",
          "start": 5088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001202435.1:c.4862T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189364.1:p.Leu1621Pro",
        "hgvsWellDefined": "NP_001189364.1:p.Leu1621Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017403"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829676243",
      "coordinates": [
        {
          "allele": "C",
          "end": 4847,
          "referenceAllele": "T",
          "start": 4846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.4:c.4829T>C",
        "LRG_8t1:c.4829T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_008851.3:p.Leu1610Pro",
        "hgvsWellDefined": "NP_008851.3:p.Leu1610Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031895"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 175,
          "endIntronDirection": "-",
          "endIntronOffset": 23199,
          "referenceAllele": "A",
          "start": 175,
          "startIntronDirection": "-",
          "startIntronOffset": 23200
        }
      ],
      "hgvs": [
        "NR_110598.1:n.176-23200A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS054761"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5046,
          "referenceAllele": "T",
          "start": 5045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511598.1:c.4862T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509900.1:p.Leu1621Pro",
        "hgvsWellDefined": "XP_011509900.1:p.Leu1621Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078859"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5261,
          "referenceAllele": "T",
          "start": 5260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511599.1:c.4862T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509901.1:p.Leu1621Pro",
        "hgvsWellDefined": "XP_011509901.1:p.Leu1621Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078860"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5137,
          "referenceAllele": "T",
          "start": 5136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511600.1:c.4862T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509902.1:p.Leu1621Pro",
        "hgvsWellDefined": "XP_011509902.1:p.Leu1621Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078861"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5256,
          "referenceAllele": "T",
          "start": 5255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511601.1:c.4862T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509903.1:p.Leu1621Pro",
        "hgvsWellDefined": "XP_011509903.1:p.Leu1621Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078862"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5169,
          "referenceAllele": "T",
          "start": 5168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511602.1:c.4862T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509904.1:p.Leu1621Pro",
        "hgvsWellDefined": "XP_011509904.1:p.Leu1621Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078863"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5043,
          "referenceAllele": "T",
          "start": 5042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511603.1:c.4859T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509905.1:p.Leu1620Pro",
        "hgvsWellDefined": "XP_011509905.1:p.Leu1620Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078864"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5013,
          "referenceAllele": "T",
          "start": 5012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511604.1:c.4829T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509906.1:p.Leu1610Pro",
        "hgvsWellDefined": "XP_011509906.1:p.Leu1610Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078865"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5010,
          "referenceAllele": "T",
          "start": 5009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511605.1:c.4826T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509907.1:p.Leu1609Pro",
        "hgvsWellDefined": "XP_011509907.1:p.Leu1609Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078866"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4962,
          "referenceAllele": "T",
          "start": 4961
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511606.1:c.4778T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509908.1:p.Leu1593Pro",
        "hgvsWellDefined": "XP_011509908.1:p.Leu1593Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078867"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4764,
          "referenceAllele": "T",
          "start": 4763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511607.1:c.4580T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509909.1:p.Leu1527Pro",
        "hgvsWellDefined": "XP_011509909.1:p.Leu1527Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078868"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826010673",
      "coordinates": [
        {
          "allele": "C",
          "end": 5359,
          "referenceAllele": "T",
          "start": 5358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.2:c.4862T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Leu1621Pro",
        "hgvsWellDefined": "NP_001159435.1:p.Leu1621Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511667"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826013644",
      "coordinates": [
        {
          "allele": "C",
          "end": 5188,
          "referenceAllele": "T",
          "start": 5187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165964.2:c.4778T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159436.1:p.Leu1593Pro",
        "hgvsWellDefined": "NP_001159436.1:p.Leu1593Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511668"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826260245",
      "coordinates": [
        {
          "allele": "C",
          "end": 5173,
          "referenceAllele": "T",
          "start": 5172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001202435.2:c.4862T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189364.1:p.Leu1621Pro",
        "hgvsWellDefined": "NP_001189364.1:p.Leu1621Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511850"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827754274",
      "coordinates": [
        {
          "allele": "C",
          "end": 5180,
          "referenceAllele": "T",
          "start": 5179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353948.1:c.4862T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340877.1:p.Leu1621Pro",
        "hgvsWellDefined": "NP_001340877.1:p.Leu1621Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522051"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827760862",
      "coordinates": [
        {
          "allele": "C",
          "end": 5048,
          "referenceAllele": "T",
          "start": 5047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353949.1:c.4829T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340878.1:p.Leu1610Pro",
        "hgvsWellDefined": "NP_001340878.1:p.Leu1610Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522052"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827767410",
      "coordinates": [
        {
          "allele": "C",
          "end": 5140,
          "referenceAllele": "T",
          "start": 5139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353950.1:c.4829T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340879.1:p.Leu1610Pro",
        "hgvsWellDefined": "NP_001340879.1:p.Leu1610Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522053"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827771616",
      "coordinates": [
        {
          "allele": "C",
          "end": 5147,
          "referenceAllele": "T",
          "start": 5146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353951.1:c.4829T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340880.1:p.Leu1610Pro",
        "hgvsWellDefined": "NP_001340880.1:p.Leu1610Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522054"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827774605",
      "coordinates": [
        {
          "allele": "C",
          "end": 5239,
          "referenceAllele": "T",
          "start": 5238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353952.1:c.4829T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340881.1:p.Leu1610Pro",
        "hgvsWellDefined": "NP_001340881.1:p.Leu1610Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522055"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827777591",
      "coordinates": [
        {
          "allele": "C",
          "end": 5236,
          "referenceAllele": "T",
          "start": 5235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353954.1:c.4826T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340883.1:p.Leu1609Pro",
        "hgvsWellDefined": "NP_001340883.1:p.Leu1609Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522056"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827780578",
      "coordinates": [
        {
          "allele": "C",
          "end": 5144,
          "referenceAllele": "T",
          "start": 5143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353955.1:c.4826T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340884.1:p.Leu1609Pro",
        "hgvsWellDefined": "NP_001340884.1:p.Leu1609Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522057"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827783550",
      "coordinates": [
        {
          "allele": "C",
          "end": 5096,
          "referenceAllele": "T",
          "start": 5095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353957.1:c.4778T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340886.1:p.Leu1593Pro",
        "hgvsWellDefined": "NP_001340886.1:p.Leu1593Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522058"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827786511",
      "coordinates": [
        {
          "allele": "C",
          "end": 5089,
          "referenceAllele": "T",
          "start": 5088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353958.1:c.4778T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340887.1:p.Leu1593Pro",
        "hgvsWellDefined": "NP_001340887.1:p.Leu1593Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522059"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827789481",
      "coordinates": [
        {
          "allele": "C",
          "end": 5185,
          "referenceAllele": "T",
          "start": 5184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353960.1:c.4775T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340889.1:p.Leu1592Pro",
        "hgvsWellDefined": "NP_001340889.1:p.Leu1592Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522060"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916036891",
      "coordinates": [
        {
          "allele": "C",
          "end": 5255,
          "referenceAllele": "T",
          "start": 5254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353961.1:c.2420T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340890.1:p.Leu807Pro",
        "hgvsWellDefined": "NP_001340890.1:p.Leu807Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522061"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829676243",
      "coordinates": [
        {
          "allele": "C",
          "end": 5326,
          "referenceAllele": "T",
          "start": 5325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.5:c.4829T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_008851.3:p.Leu1610Pro",
        "hgvsWellDefined": "NP_008851.3:p.Leu1610Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525436"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5298,
          "referenceAllele": "T",
          "start": 5297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NR_148667.1:n.5298T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531272"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5312,
          "referenceAllele": "T",
          "start": 5311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XR_001738883.1:n.5312T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589320"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5284,
          "referenceAllele": "T",
          "start": 5283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XR_001738884.1:n.5284T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589321"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826010673",
      "coordinates": [
        {
          "allele": "C",
          "end": 5340,
          "referenceAllele": "T",
          "start": 5339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.3:c.4862T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Leu1621Pro",
        "hgvsWellDefined": "NP_001159435.1:p.Leu1621Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678433"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826013644",
      "coordinates": [
        {
          "allele": "C",
          "end": 5169,
          "referenceAllele": "T",
          "start": 5168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165964.3:c.4778T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159436.1:p.Leu1593Pro",
        "hgvsWellDefined": "NP_001159436.1:p.Leu1593Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678434"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826260245",
      "coordinates": [
        {
          "allele": "C",
          "end": 5118,
          "referenceAllele": "T",
          "start": 5117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001202435.3:c.4862T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189364.1:p.Leu1621Pro",
        "hgvsWellDefined": "NP_001189364.1:p.Leu1621Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679700"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827754274",
      "coordinates": [
        {
          "allele": "C",
          "end": 5161,
          "referenceAllele": "T",
          "start": 5160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353948.2:c.4862T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340877.1:p.Leu1621Pro",
        "hgvsWellDefined": "NP_001340877.1:p.Leu1621Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689996"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827760862",
      "coordinates": [
        {
          "allele": "C",
          "end": 4993,
          "referenceAllele": "T",
          "start": 4992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353949.2:c.4829T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340878.1:p.Leu1610Pro",
        "hgvsWellDefined": "NP_001340878.1:p.Leu1610Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827767410",
      "coordinates": [
        {
          "allele": "C",
          "end": 5085,
          "referenceAllele": "T",
          "start": 5084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353950.2:c.4829T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340879.1:p.Leu1610Pro",
        "hgvsWellDefined": "NP_001340879.1:p.Leu1610Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689998"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827771616",
      "coordinates": [
        {
          "allele": "C",
          "end": 5128,
          "referenceAllele": "T",
          "start": 5127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353951.2:c.4829T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340880.1:p.Leu1610Pro",
        "hgvsWellDefined": "NP_001340880.1:p.Leu1610Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689999"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827774605",
      "coordinates": [
        {
          "allele": "C",
          "end": 5220,
          "referenceAllele": "T",
          "start": 5219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353952.2:c.4829T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340881.1:p.Leu1610Pro",
        "hgvsWellDefined": "NP_001340881.1:p.Leu1610Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690000"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827777591",
      "coordinates": [
        {
          "allele": "C",
          "end": 5217,
          "referenceAllele": "T",
          "start": 5216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353954.2:c.4826T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340883.1:p.Leu1609Pro",
        "hgvsWellDefined": "NP_001340883.1:p.Leu1609Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690001"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827780578",
      "coordinates": [
        {
          "allele": "C",
          "end": 5125,
          "referenceAllele": "T",
          "start": 5124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353955.2:c.4826T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340884.1:p.Leu1609Pro",
        "hgvsWellDefined": "NP_001340884.1:p.Leu1609Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690002"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827783550",
      "coordinates": [
        {
          "allele": "C",
          "end": 5077,
          "referenceAllele": "T",
          "start": 5076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353957.2:c.4778T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340886.1:p.Leu1593Pro",
        "hgvsWellDefined": "NP_001340886.1:p.Leu1593Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690003"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827786511",
      "coordinates": [
        {
          "allele": "C",
          "end": 5034,
          "referenceAllele": "T",
          "start": 5033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353958.2:c.4778T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340887.1:p.Leu1593Pro",
        "hgvsWellDefined": "NP_001340887.1:p.Leu1593Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690004"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827789481",
      "coordinates": [
        {
          "allele": "C",
          "end": 5166,
          "referenceAllele": "T",
          "start": 5165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353960.2:c.4775T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340889.1:p.Leu1592Pro",
        "hgvsWellDefined": "NP_001340889.1:p.Leu1592Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690005"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916036891",
      "coordinates": [
        {
          "allele": "C",
          "end": 5236,
          "referenceAllele": "T",
          "start": 5235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353961.2:c.2420T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340890.1:p.Leu807Pro",
        "hgvsWellDefined": "NP_001340890.1:p.Leu807Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690006"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829676243",
      "coordinates": [
        {
          "allele": "C",
          "end": 5307,
          "referenceAllele": "T",
          "start": 5306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.6:c.4829T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_008851.3:p.Leu1610Pro",
        "hgvsWellDefined": "NP_008851.3:p.Leu1610Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696855"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5279,
          "referenceAllele": "T",
          "start": 5278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NR_148667.2:n.5279T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704821"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826010673",
      "coordinates": [
        {
          "allele": "C",
          "end": 5340,
          "referenceAllele": "T",
          "start": 5339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.4:c.4862T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Leu1621Pro",
        "hgvsWellDefined": "NP_001159435.1:p.Leu1621Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713154",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674923.1:c.4862T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001165963.4:c.4862T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501589.1:p.Leu1621Pro"
          },
          "RefSeq": {
            "hgvs": "NP_001159435.1:p.Leu1621Pro"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}