{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA285039",
  "communityStandardTitle": [
    "NM_001165963.4(SCN1A):c.650C>A (p.Thr217Lys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=79469[alleleid]",
        "alleleId": 79469,
        "preferredName": "NM_001165963.4(SCN1A):c.650C>A (p.Thr217Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/68577",
        "RCV": [
          "RCV000059453",
          "RCV002513781"
        ],
        "variationId": 68577
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.166909406G>T?assembly=hg19",
        "id": "chr2:g.166909406G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.166052896G>T?assembly=hg38",
        "id": "chr2:g.166052896G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121917936",
        "rs": 121917936
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 166052896,
          "referenceAllele": "G",
          "start": 166052895
        }
      ],
      "hgvs": [
        "NC_000002.12:g.166052896G>T",
        "CM000664.2:g.166052896G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 166909406,
          "referenceAllele": "G",
          "start": 166909405
        }
      ],
      "hgvs": [
        "NC_000002.11:g.166909406G>T",
        "CM000664.1:g.166909406G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 166617652,
          "referenceAllele": "G",
          "start": 166617651
        }
      ],
      "hgvs": [
        "NC_000002.10:g.166617652G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25744,
          "referenceAllele": "C",
          "start": 25743
        }
      ],
      "hgvs": [
        "NG_011906.1:g.25744C>A",
        "LRG_8:g.25744C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002054"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 699,
          "referenceAllele": "C",
          "start": 698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000689288.1:c.650C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509637.1:p.Thr217Lys",
        "hgvsWellDefined": "ENSP00000509637.1:p.Thr217Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832093"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1041,
          "referenceAllele": "C",
          "start": 1040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000303395.9:c.650C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303540.4:p.Thr217Lys",
        "hgvsWellDefined": "ENSP00000303540.4:p.Thr217Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745029"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 867,
          "referenceAllele": "C",
          "start": 866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000635750.1:c.650C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490799.1:p.Thr217Lys",
        "hgvsWellDefined": "ENSP00000490799.1:p.Thr217Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762613"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 952,
          "referenceAllele": "C",
          "start": 951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000635776.1:c.650C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490692.1:p.Thr217Lys",
        "hgvsWellDefined": "ENSP00000490692.1:p.Thr217Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762634"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1060,
          "referenceAllele": "C",
          "start": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000636194.1:c.650C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490288.1:p.Thr217Lys",
        "hgvsWellDefined": "ENSP00000490288.1:p.Thr217Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762941"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1310,
          "referenceAllele": "C",
          "start": 1309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000636759.1:c.*440C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490895.1:n.*440C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763360"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 902,
          "referenceAllele": "C",
          "start": 901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000637968.1:n.902C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764246"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1130,
          "referenceAllele": "C",
          "start": 1129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000637988.1:c.650C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490780.1:p.Thr217Lys",
        "hgvsWellDefined": "ENSP00000490780.1:p.Thr217Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764260"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 743,
          "endIntronDirection": "+",
          "endIntronOffset": 143,
          "referenceAllele": "C",
          "start": 743,
          "startIntronDirection": "+",
          "startIntronOffset": 142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000640036.1:c.694+143C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491573.1:n.694+143C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765301"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 926,
          "referenceAllele": "C",
          "start": 925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000641575.1:c.650C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492917.1:p.Thr217Lys",
        "hgvsWellDefined": "ENSP00000492917.1:p.Thr217Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766184"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 804,
          "referenceAllele": "C",
          "start": 803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000641603.1:c.650C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492945.1:p.Thr217Lys",
        "hgvsWellDefined": "ENSP00000492945.1:p.Thr217Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766204"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 919,
          "referenceAllele": "C",
          "start": 918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000641996.1:c.*204C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493054.1:n.*204C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766485"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1036,
          "referenceAllele": "C",
          "start": 1035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000671940.1:c.650C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500336.1:p.Thr217Lys",
        "hgvsWellDefined": "ENSP00000500336.1:p.Thr217Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773217"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3123,
          "referenceAllele": "C",
          "start": 3122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000673490.1:n.3123C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773702"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1128,
          "referenceAllele": "C",
          "start": 1127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000674923.1:c.650C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501589.1:p.Thr217Lys",
        "hgvsWellDefined": "ENSP00000501589.1:p.Thr217Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774809",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674923.1:c.650C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001165963.4:c.650C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501589.1:p.Thr217Lys"
          },
          "RefSeq": {
            "hgvs": "NP_001159435.1:p.Thr217Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1068,
          "referenceAllele": "C",
          "start": 1067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000303395.8:c.650C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303540.4:p.Thr217Lys",
        "hgvsWellDefined": "ENSP00000303540.4:p.Thr217Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255312"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 668,
          "referenceAllele": "C",
          "start": 667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000375405.7:c.650C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364554.3:p.Thr217Lys",
        "hgvsWellDefined": "ENSP00000364554.3:p.Thr217Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270694"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 650,
          "referenceAllele": "C",
          "start": 649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000409050.1:c.650C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386312.1:p.Thr217Lys",
        "hgvsWellDefined": "ENSP00000386312.1:p.Thr217Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281214"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 726,
          "referenceAllele": "C",
          "start": 725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000423058.6:c.650C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407030.2:p.Thr217Lys",
        "hgvsWellDefined": "ENSP00000407030.2:p.Thr217Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287573"
    },
    {
      "@id": "http://reg.genome.network/allele/PA108428",
      "coordinates": [
        {
          "allele": "A",
          "end": 668,
          "referenceAllele": "C",
          "start": 667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.1:c.650C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Thr217Lys",
        "hgvsWellDefined": "NP_001159435.1:p.Thr217Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014743"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826011613",
      "coordinates": [
        {
          "allele": "A",
          "end": 668,
          "referenceAllele": "C",
          "start": 667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165964.1:c.650C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159436.1:p.Thr217Lys",
        "hgvsWellDefined": "NP_001159436.1:p.Thr217Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014744"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826258194",
      "coordinates": [
        {
          "allele": "A",
          "end": 877,
          "referenceAllele": "C",
          "start": 876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001202435.1:c.650C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189364.1:p.Thr217Lys",
        "hgvsWellDefined": "NP_001189364.1:p.Thr217Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017403"
    },
    {
      "@id": "http://reg.genome.network/allele/PA285041",
      "coordinates": [
        {
          "allele": "A",
          "end": 668,
          "referenceAllele": "C",
          "start": 667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.4:c.650C>A",
        "LRG_8t1:c.650C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_008851.3:p.Thr217Lys",
        "hgvsWellDefined": "NP_008851.3:p.Thr217Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031895"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 834,
          "referenceAllele": "C",
          "start": 833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511598.1:c.650C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509900.1:p.Thr217Lys",
        "hgvsWellDefined": "XP_011509900.1:p.Thr217Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078859"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1049,
          "referenceAllele": "C",
          "start": 1048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511599.1:c.650C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509901.1:p.Thr217Lys",
        "hgvsWellDefined": "XP_011509901.1:p.Thr217Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078860"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 925,
          "referenceAllele": "C",
          "start": 924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511600.1:c.650C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509902.1:p.Thr217Lys",
        "hgvsWellDefined": "XP_011509902.1:p.Thr217Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078861"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1044,
          "referenceAllele": "C",
          "start": 1043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511601.1:c.650C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509903.1:p.Thr217Lys",
        "hgvsWellDefined": "XP_011509903.1:p.Thr217Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078862"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 957,
          "referenceAllele": "C",
          "start": 956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511602.1:c.650C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509904.1:p.Thr217Lys",
        "hgvsWellDefined": "XP_011509904.1:p.Thr217Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078863"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 834,
          "referenceAllele": "C",
          "start": 833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511603.1:c.650C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509905.1:p.Thr217Lys",
        "hgvsWellDefined": "XP_011509905.1:p.Thr217Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078864"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 834,
          "referenceAllele": "C",
          "start": 833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511604.1:c.650C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509906.1:p.Thr217Lys",
        "hgvsWellDefined": "XP_011509906.1:p.Thr217Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078865"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 834,
          "referenceAllele": "C",
          "start": 833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511605.1:c.650C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509907.1:p.Thr217Lys",
        "hgvsWellDefined": "XP_011509907.1:p.Thr217Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078866"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 834,
          "referenceAllele": "C",
          "start": 833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511606.1:c.650C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509908.1:p.Thr217Lys",
        "hgvsWellDefined": "XP_011509908.1:p.Thr217Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078867"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 834,
          "referenceAllele": "C",
          "start": 833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511607.1:c.650C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509909.1:p.Thr217Lys",
        "hgvsWellDefined": "XP_011509909.1:p.Thr217Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078868"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 834,
          "referenceAllele": "C",
          "start": 833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XR_922981.1:n.834C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS120043"
    },
    {
      "@id": "http://reg.genome.network/allele/PA108428",
      "coordinates": [
        {
          "allele": "A",
          "end": 1147,
          "referenceAllele": "C",
          "start": 1146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.2:c.650C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Thr217Lys",
        "hgvsWellDefined": "NP_001159435.1:p.Thr217Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511667"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826011613",
      "coordinates": [
        {
          "allele": "A",
          "end": 1060,
          "referenceAllele": "C",
          "start": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165964.2:c.650C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159436.1:p.Thr217Lys",
        "hgvsWellDefined": "NP_001159436.1:p.Thr217Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511668"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826258194",
      "coordinates": [
        {
          "allele": "A",
          "end": 961,
          "referenceAllele": "C",
          "start": 960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001202435.2:c.650C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189364.1:p.Thr217Lys",
        "hgvsWellDefined": "NP_001189364.1:p.Thr217Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511850"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827749665",
      "coordinates": [
        {
          "allele": "A",
          "end": 968,
          "referenceAllele": "C",
          "start": 967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353948.1:c.650C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340877.1:p.Thr217Lys",
        "hgvsWellDefined": "NP_001340877.1:p.Thr217Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522051"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827756304",
      "coordinates": [
        {
          "allele": "A",
          "end": 869,
          "referenceAllele": "C",
          "start": 868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353949.1:c.650C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340878.1:p.Thr217Lys",
        "hgvsWellDefined": "NP_001340878.1:p.Thr217Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522052"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827762946",
      "coordinates": [
        {
          "allele": "A",
          "end": 961,
          "referenceAllele": "C",
          "start": 960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353950.1:c.650C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340879.1:p.Thr217Lys",
        "hgvsWellDefined": "NP_001340879.1:p.Thr217Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522053"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827769479",
      "coordinates": [
        {
          "allele": "A",
          "end": 968,
          "referenceAllele": "C",
          "start": 967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353951.1:c.650C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340880.1:p.Thr217Lys",
        "hgvsWellDefined": "NP_001340880.1:p.Thr217Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522054"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827772558",
      "coordinates": [
        {
          "allele": "A",
          "end": 1060,
          "referenceAllele": "C",
          "start": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353952.1:c.650C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340881.1:p.Thr217Lys",
        "hgvsWellDefined": "NP_001340881.1:p.Thr217Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522055"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827775546",
      "coordinates": [
        {
          "allele": "A",
          "end": 1060,
          "referenceAllele": "C",
          "start": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353954.1:c.650C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340883.1:p.Thr217Lys",
        "hgvsWellDefined": "NP_001340883.1:p.Thr217Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522056"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827778533",
      "coordinates": [
        {
          "allele": "A",
          "end": 968,
          "referenceAllele": "C",
          "start": 967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353955.1:c.650C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340884.1:p.Thr217Lys",
        "hgvsWellDefined": "NP_001340884.1:p.Thr217Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522057"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827781518",
      "coordinates": [
        {
          "allele": "A",
          "end": 968,
          "referenceAllele": "C",
          "start": 967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353957.1:c.650C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340886.1:p.Thr217Lys",
        "hgvsWellDefined": "NP_001340886.1:p.Thr217Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522058"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827784491",
      "coordinates": [
        {
          "allele": "A",
          "end": 961,
          "referenceAllele": "C",
          "start": 960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353958.1:c.650C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340887.1:p.Thr217Lys",
        "hgvsWellDefined": "NP_001340887.1:p.Thr217Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522059"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827787452",
      "coordinates": [
        {
          "allele": "A",
          "end": 1060,
          "referenceAllele": "C",
          "start": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353960.1:c.650C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340889.1:p.Thr217Lys",
        "hgvsWellDefined": "NP_001340889.1:p.Thr217Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522060"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1060,
          "referenceAllele": "C",
          "start": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353961.1:c.-1776C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340890.1:n.-1776C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522061"
    },
    {
      "@id": "http://reg.genome.network/allele/PA285041",
      "coordinates": [
        {
          "allele": "A",
          "end": 1147,
          "referenceAllele": "C",
          "start": 1146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.5:c.650C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_008851.3:p.Thr217Lys",
        "hgvsWellDefined": "NP_008851.3:p.Thr217Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525436"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1055,
          "referenceAllele": "C",
          "start": 1054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NR_148667.1:n.1055C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531272"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1036,
          "referenceAllele": "C",
          "start": 1035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XR_001738883.1:n.1036C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589320"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1041,
          "referenceAllele": "C",
          "start": 1040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XR_001738884.1:n.1041C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589321"
    },
    {
      "@id": "http://reg.genome.network/allele/PA108428",
      "coordinates": [
        {
          "allele": "A",
          "end": 1128,
          "referenceAllele": "C",
          "start": 1127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.3:c.650C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Thr217Lys",
        "hgvsWellDefined": "NP_001159435.1:p.Thr217Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678433"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826011613",
      "coordinates": [
        {
          "allele": "A",
          "end": 1041,
          "referenceAllele": "C",
          "start": 1040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165964.3:c.650C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159436.1:p.Thr217Lys",
        "hgvsWellDefined": "NP_001159436.1:p.Thr217Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678434"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826258194",
      "coordinates": [
        {
          "allele": "A",
          "end": 906,
          "referenceAllele": "C",
          "start": 905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001202435.3:c.650C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189364.1:p.Thr217Lys",
        "hgvsWellDefined": "NP_001189364.1:p.Thr217Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679700"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827749665",
      "coordinates": [
        {
          "allele": "A",
          "end": 949,
          "referenceAllele": "C",
          "start": 948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353948.2:c.650C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340877.1:p.Thr217Lys",
        "hgvsWellDefined": "NP_001340877.1:p.Thr217Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689996"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827756304",
      "coordinates": [
        {
          "allele": "A",
          "end": 814,
          "referenceAllele": "C",
          "start": 813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353949.2:c.650C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340878.1:p.Thr217Lys",
        "hgvsWellDefined": "NP_001340878.1:p.Thr217Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827762946",
      "coordinates": [
        {
          "allele": "A",
          "end": 906,
          "referenceAllele": "C",
          "start": 905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353950.2:c.650C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340879.1:p.Thr217Lys",
        "hgvsWellDefined": "NP_001340879.1:p.Thr217Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689998"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827769479",
      "coordinates": [
        {
          "allele": "A",
          "end": 949,
          "referenceAllele": "C",
          "start": 948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353951.2:c.650C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340880.1:p.Thr217Lys",
        "hgvsWellDefined": "NP_001340880.1:p.Thr217Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689999"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827772558",
      "coordinates": [
        {
          "allele": "A",
          "end": 1041,
          "referenceAllele": "C",
          "start": 1040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353952.2:c.650C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340881.1:p.Thr217Lys",
        "hgvsWellDefined": "NP_001340881.1:p.Thr217Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690000"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827775546",
      "coordinates": [
        {
          "allele": "A",
          "end": 1041,
          "referenceAllele": "C",
          "start": 1040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353954.2:c.650C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340883.1:p.Thr217Lys",
        "hgvsWellDefined": "NP_001340883.1:p.Thr217Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690001"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827778533",
      "coordinates": [
        {
          "allele": "A",
          "end": 949,
          "referenceAllele": "C",
          "start": 948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353955.2:c.650C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340884.1:p.Thr217Lys",
        "hgvsWellDefined": "NP_001340884.1:p.Thr217Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690002"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827781518",
      "coordinates": [
        {
          "allele": "A",
          "end": 949,
          "referenceAllele": "C",
          "start": 948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353957.2:c.650C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340886.1:p.Thr217Lys",
        "hgvsWellDefined": "NP_001340886.1:p.Thr217Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690003"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827784491",
      "coordinates": [
        {
          "allele": "A",
          "end": 906,
          "referenceAllele": "C",
          "start": 905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353958.2:c.650C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340887.1:p.Thr217Lys",
        "hgvsWellDefined": "NP_001340887.1:p.Thr217Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690004"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827787452",
      "coordinates": [
        {
          "allele": "A",
          "end": 1041,
          "referenceAllele": "C",
          "start": 1040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353960.2:c.650C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340889.1:p.Thr217Lys",
        "hgvsWellDefined": "NP_001340889.1:p.Thr217Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1041,
          "referenceAllele": "C",
          "start": 1040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353961.2:c.-1776C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340890.1:n.-1776C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690006"
    },
    {
      "@id": "http://reg.genome.network/allele/PA285041",
      "coordinates": [
        {
          "allele": "A",
          "end": 1128,
          "referenceAllele": "C",
          "start": 1127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.6:c.650C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_008851.3:p.Thr217Lys",
        "hgvsWellDefined": "NP_008851.3:p.Thr217Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696855"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1036,
          "referenceAllele": "C",
          "start": 1035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NR_148667.2:n.1036C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704821"
    },
    {
      "@id": "http://reg.genome.network/allele/PA108428",
      "coordinates": [
        {
          "allele": "A",
          "end": 1128,
          "referenceAllele": "C",
          "start": 1127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.4:c.650C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Thr217Lys",
        "hgvsWellDefined": "NP_001159435.1:p.Thr217Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713154",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674923.1:c.650C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001165963.4:c.650C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501589.1:p.Thr217Lys"
          },
          "RefSeq": {
            "hgvs": "NP_001159435.1:p.Thr217Lys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}