{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA145239",
  "communityStandardTitle": [
    "NM_001165963.4(SCN1A):c.2917A>G (p.Met973Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=79418[alleleid]",
        "alleleId": 79418,
        "preferredName": "NM_001165963.4(SCN1A):c.2917A>G (p.Met973Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/68526",
        "RCV": [
          "RCV000059398",
          "RCV001296130"
        ],
        "variationId": 68526
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.166894315T>C?assembly=hg19",
        "id": "chr2:g.166894315T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.166037805T>C?assembly=hg38",
        "id": "chr2:g.166037805T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121917991",
        "rs": 121917991
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-166037805-T-C?dataset=gnomad_r4",
        "id": "2-166037805-T-C",
        "variant": "2:166037805 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 166037805,
          "referenceAllele": "T",
          "start": 166037804
        }
      ],
      "hgvs": [
        "NC_000002.12:g.166037805T>C",
        "CM000664.2:g.166037805T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 166894315,
          "referenceAllele": "T",
          "start": 166894314
        }
      ],
      "hgvs": [
        "NC_000002.11:g.166894315T>C",
        "CM000664.1:g.166894315T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 166602561,
          "referenceAllele": "T",
          "start": 166602560
        }
      ],
      "hgvs": [
        "NC_000002.10:g.166602561T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 40835,
          "referenceAllele": "A",
          "start": 40834
        }
      ],
      "hgvs": [
        "NG_011906.1:g.40835A>G",
        "LRG_8:g.40835A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002054"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3060,
          "referenceAllele": "A",
          "start": 3059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000689288.1:c.*953A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509637.1:n.*953A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832093"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3308,
          "referenceAllele": "A",
          "start": 3307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000303395.9:c.2917A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303540.4:p.Met973Val",
        "hgvsWellDefined": "ENSP00000303540.4:p.Met973Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745029"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3101,
          "referenceAllele": "A",
          "start": 3100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000635750.1:c.2884A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490799.1:p.Met962Val",
        "hgvsWellDefined": "ENSP00000490799.1:p.Met962Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762613"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3186,
          "referenceAllele": "A",
          "start": 3185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000635776.1:c.2884A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490692.1:p.Met962Val",
        "hgvsWellDefined": "ENSP00000490692.1:p.Met962Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762634"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3310,
          "referenceAllele": "A",
          "start": 3309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000636194.1:c.*410A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490288.1:n.*410A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762941"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3577,
          "referenceAllele": "A",
          "start": 3576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000636759.1:c.*2707A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490895.1:n.*2707A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763360"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3169,
          "referenceAllele": "A",
          "start": 3168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000637968.1:n.3169A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764246"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3364,
          "referenceAllele": "A",
          "start": 3363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000637988.1:c.2884A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490780.1:p.Met962Val",
        "hgvsWellDefined": "ENSP00000490780.1:p.Met962Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764260"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2933,
          "referenceAllele": "A",
          "start": 2932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000640036.1:c.2884A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491573.1:p.Met962Val",
        "hgvsWellDefined": "ENSP00000491573.1:p.Met962Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765301"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3157,
          "referenceAllele": "A",
          "start": 3156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000641575.1:c.2881A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492917.1:p.Met961Val",
        "hgvsWellDefined": "ENSP00000492917.1:p.Met961Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766184"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3071,
          "referenceAllele": "A",
          "start": 3070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000641603.1:c.2917A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492945.1:p.Met973Val",
        "hgvsWellDefined": "ENSP00000492945.1:p.Met973Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766204"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3186,
          "referenceAllele": "A",
          "start": 3185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000641996.1:c.*2471A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493054.1:n.*2471A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766485"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3136,
          "referenceAllele": "A",
          "start": 3135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000671940.1:c.*860A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500336.1:n.*860A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773217"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5390,
          "referenceAllele": "A",
          "start": 5389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000673490.1:n.5390A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773702"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3395,
          "referenceAllele": "A",
          "start": 3394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000674923.1:c.2917A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501589.1:p.Met973Val",
        "hgvsWellDefined": "ENSP00000501589.1:p.Met973Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774809",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674923.1:c.2917A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001165963.4:c.2917A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501589.1:p.Met973Val"
          },
          "RefSeq": {
            "hgvs": "NP_001159435.1:p.Met973Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3335,
          "referenceAllele": "A",
          "start": 3334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000303395.8:c.2917A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303540.4:p.Met973Val",
        "hgvsWellDefined": "ENSP00000303540.4:p.Met973Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255312"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2902,
          "referenceAllele": "A",
          "start": 2901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000375405.7:c.2884A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364554.3:p.Met962Val",
        "hgvsWellDefined": "ENSP00000364554.3:p.Met962Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270694"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2833,
          "referenceAllele": "A",
          "start": 2832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000409050.1:c.2833A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386312.1:p.Met945Val",
        "hgvsWellDefined": "ENSP00000386312.1:p.Met945Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281214"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2993,
          "referenceAllele": "A",
          "start": 2992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000423058.6:c.2917A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407030.2:p.Met973Val",
        "hgvsWellDefined": "ENSP00000407030.2:p.Met973Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287573"
    },
    {
      "@id": "http://reg.genome.network/allele/PA145242",
      "coordinates": [
        {
          "allele": "G",
          "end": 2935,
          "referenceAllele": "A",
          "start": 2934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.1:c.2917A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Met973Val",
        "hgvsWellDefined": "NP_001159435.1:p.Met973Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014743"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826012671",
      "coordinates": [
        {
          "allele": "G",
          "end": 2851,
          "referenceAllele": "A",
          "start": 2850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165964.1:c.2833A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159436.1:p.Met945Val",
        "hgvsWellDefined": "NP_001159436.1:p.Met945Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014744"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826259277",
      "coordinates": [
        {
          "allele": "G",
          "end": 3144,
          "referenceAllele": "A",
          "start": 3143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001202435.1:c.2917A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189364.1:p.Met973Val",
        "hgvsWellDefined": "NP_001189364.1:p.Met973Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017403"
    },
    {
      "@id": "http://reg.genome.network/allele/PA145241",
      "coordinates": [
        {
          "allele": "G",
          "end": 2902,
          "referenceAllele": "A",
          "start": 2901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.4:c.2884A>G",
        "LRG_8t1:c.2884A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_008851.3:p.Met962Val",
        "hgvsWellDefined": "NP_008851.3:p.Met962Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031895"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3101,
          "referenceAllele": "A",
          "start": 3100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511598.1:c.2917A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509900.1:p.Met973Val",
        "hgvsWellDefined": "XP_011509900.1:p.Met973Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078859"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3316,
          "referenceAllele": "A",
          "start": 3315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511599.1:c.2917A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509901.1:p.Met973Val",
        "hgvsWellDefined": "XP_011509901.1:p.Met973Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078860"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3192,
          "referenceAllele": "A",
          "start": 3191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511600.1:c.2917A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509902.1:p.Met973Val",
        "hgvsWellDefined": "XP_011509902.1:p.Met973Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078861"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3311,
          "referenceAllele": "A",
          "start": 3310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511601.1:c.2917A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509903.1:p.Met973Val",
        "hgvsWellDefined": "XP_011509903.1:p.Met973Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078862"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3224,
          "referenceAllele": "A",
          "start": 3223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511602.1:c.2917A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509904.1:p.Met973Val",
        "hgvsWellDefined": "XP_011509904.1:p.Met973Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078863"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3098,
          "referenceAllele": "A",
          "start": 3097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511603.1:c.2914A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509905.1:p.Met972Val",
        "hgvsWellDefined": "XP_011509905.1:p.Met972Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078864"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3068,
          "referenceAllele": "A",
          "start": 3067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511604.1:c.2884A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509906.1:p.Met962Val",
        "hgvsWellDefined": "XP_011509906.1:p.Met962Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078865"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3065,
          "referenceAllele": "A",
          "start": 3064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511605.1:c.2881A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509907.1:p.Met961Val",
        "hgvsWellDefined": "XP_011509907.1:p.Met961Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078866"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3017,
          "referenceAllele": "A",
          "start": 3016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511606.1:c.2833A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509908.1:p.Met945Val",
        "hgvsWellDefined": "XP_011509908.1:p.Met945Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078867"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3101,
          "referenceAllele": "A",
          "start": 3100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511607.1:c.2917A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509909.1:p.Met973Val",
        "hgvsWellDefined": "XP_011509909.1:p.Met973Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078868"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3101,
          "referenceAllele": "A",
          "start": 3100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XR_922981.1:n.3101A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS120043"
    },
    {
      "@id": "http://reg.genome.network/allele/PA145242",
      "coordinates": [
        {
          "allele": "G",
          "end": 3414,
          "referenceAllele": "A",
          "start": 3413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.2:c.2917A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Met973Val",
        "hgvsWellDefined": "NP_001159435.1:p.Met973Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511667"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826012671",
      "coordinates": [
        {
          "allele": "G",
          "end": 3243,
          "referenceAllele": "A",
          "start": 3242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165964.2:c.2833A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159436.1:p.Met945Val",
        "hgvsWellDefined": "NP_001159436.1:p.Met945Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511668"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826259277",
      "coordinates": [
        {
          "allele": "G",
          "end": 3228,
          "referenceAllele": "A",
          "start": 3227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001202435.2:c.2917A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189364.1:p.Met973Val",
        "hgvsWellDefined": "NP_001189364.1:p.Met973Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511850"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916036472",
      "coordinates": [
        {
          "allele": "G",
          "end": 3235,
          "referenceAllele": "A",
          "start": 3234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353948.1:c.2917A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340877.1:p.Met973Val",
        "hgvsWellDefined": "NP_001340877.1:p.Met973Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522051"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827758698",
      "coordinates": [
        {
          "allele": "G",
          "end": 3103,
          "referenceAllele": "A",
          "start": 3102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353949.1:c.2884A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340878.1:p.Met962Val",
        "hgvsWellDefined": "NP_001340878.1:p.Met962Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522052"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827765266",
      "coordinates": [
        {
          "allele": "G",
          "end": 3195,
          "referenceAllele": "A",
          "start": 3194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353950.1:c.2884A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340879.1:p.Met962Val",
        "hgvsWellDefined": "NP_001340879.1:p.Met962Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522053"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827770643",
      "coordinates": [
        {
          "allele": "G",
          "end": 3202,
          "referenceAllele": "A",
          "start": 3201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353951.1:c.2884A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340880.1:p.Met962Val",
        "hgvsWellDefined": "NP_001340880.1:p.Met962Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522054"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827773631",
      "coordinates": [
        {
          "allele": "G",
          "end": 3294,
          "referenceAllele": "A",
          "start": 3293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353952.1:c.2884A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340881.1:p.Met962Val",
        "hgvsWellDefined": "NP_001340881.1:p.Met962Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522055"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827776618",
      "coordinates": [
        {
          "allele": "G",
          "end": 3291,
          "referenceAllele": "A",
          "start": 3290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353954.1:c.2881A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340883.1:p.Met961Val",
        "hgvsWellDefined": "NP_001340883.1:p.Met961Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522056"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827779605",
      "coordinates": [
        {
          "allele": "G",
          "end": 3199,
          "referenceAllele": "A",
          "start": 3198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353955.1:c.2881A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340884.1:p.Met961Val",
        "hgvsWellDefined": "NP_001340884.1:p.Met961Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522057"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827782576",
      "coordinates": [
        {
          "allele": "G",
          "end": 3151,
          "referenceAllele": "A",
          "start": 3150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353957.1:c.2833A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340886.1:p.Met945Val",
        "hgvsWellDefined": "NP_001340886.1:p.Met945Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522058"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827785548",
      "coordinates": [
        {
          "allele": "G",
          "end": 3144,
          "referenceAllele": "A",
          "start": 3143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353958.1:c.2833A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340887.1:p.Met945Val",
        "hgvsWellDefined": "NP_001340887.1:p.Met945Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522059"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827788508",
      "coordinates": [
        {
          "allele": "G",
          "end": 3240,
          "referenceAllele": "A",
          "start": 3239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353960.1:c.2830A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340889.1:p.Met944Val",
        "hgvsWellDefined": "NP_001340889.1:p.Met944Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522060"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827790354",
      "coordinates": [
        {
          "allele": "G",
          "end": 3310,
          "referenceAllele": "A",
          "start": 3309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353961.1:c.475A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340890.1:p.Met159Val",
        "hgvsWellDefined": "NP_001340890.1:p.Met159Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522061"
    },
    {
      "@id": "http://reg.genome.network/allele/PA145241",
      "coordinates": [
        {
          "allele": "G",
          "end": 3381,
          "referenceAllele": "A",
          "start": 3380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.5:c.2884A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_008851.3:p.Met962Val",
        "hgvsWellDefined": "NP_008851.3:p.Met962Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525436"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3289,
          "referenceAllele": "A",
          "start": 3288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NR_148667.1:n.3289A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531272"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3303,
          "referenceAllele": "A",
          "start": 3302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XR_001738883.1:n.3303A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589320"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3275,
          "referenceAllele": "A",
          "start": 3274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XR_001738884.1:n.3275A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589321"
    },
    {
      "@id": "http://reg.genome.network/allele/PA145242",
      "coordinates": [
        {
          "allele": "G",
          "end": 3395,
          "referenceAllele": "A",
          "start": 3394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.3:c.2917A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Met973Val",
        "hgvsWellDefined": "NP_001159435.1:p.Met973Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678433"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826012671",
      "coordinates": [
        {
          "allele": "G",
          "end": 3224,
          "referenceAllele": "A",
          "start": 3223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165964.3:c.2833A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159436.1:p.Met945Val",
        "hgvsWellDefined": "NP_001159436.1:p.Met945Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678434"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826259277",
      "coordinates": [
        {
          "allele": "G",
          "end": 3173,
          "referenceAllele": "A",
          "start": 3172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001202435.3:c.2917A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189364.1:p.Met973Val",
        "hgvsWellDefined": "NP_001189364.1:p.Met973Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679700"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916036472",
      "coordinates": [
        {
          "allele": "G",
          "end": 3216,
          "referenceAllele": "A",
          "start": 3215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353948.2:c.2917A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340877.1:p.Met973Val",
        "hgvsWellDefined": "NP_001340877.1:p.Met973Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689996"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827758698",
      "coordinates": [
        {
          "allele": "G",
          "end": 3048,
          "referenceAllele": "A",
          "start": 3047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353949.2:c.2884A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340878.1:p.Met962Val",
        "hgvsWellDefined": "NP_001340878.1:p.Met962Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827765266",
      "coordinates": [
        {
          "allele": "G",
          "end": 3140,
          "referenceAllele": "A",
          "start": 3139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353950.2:c.2884A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340879.1:p.Met962Val",
        "hgvsWellDefined": "NP_001340879.1:p.Met962Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689998"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827770643",
      "coordinates": [
        {
          "allele": "G",
          "end": 3183,
          "referenceAllele": "A",
          "start": 3182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353951.2:c.2884A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340880.1:p.Met962Val",
        "hgvsWellDefined": "NP_001340880.1:p.Met962Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689999"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827773631",
      "coordinates": [
        {
          "allele": "G",
          "end": 3275,
          "referenceAllele": "A",
          "start": 3274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353952.2:c.2884A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340881.1:p.Met962Val",
        "hgvsWellDefined": "NP_001340881.1:p.Met962Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690000"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827776618",
      "coordinates": [
        {
          "allele": "G",
          "end": 3272,
          "referenceAllele": "A",
          "start": 3271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353954.2:c.2881A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340883.1:p.Met961Val",
        "hgvsWellDefined": "NP_001340883.1:p.Met961Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690001"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827779605",
      "coordinates": [
        {
          "allele": "G",
          "end": 3180,
          "referenceAllele": "A",
          "start": 3179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353955.2:c.2881A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340884.1:p.Met961Val",
        "hgvsWellDefined": "NP_001340884.1:p.Met961Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690002"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827782576",
      "coordinates": [
        {
          "allele": "G",
          "end": 3132,
          "referenceAllele": "A",
          "start": 3131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353957.2:c.2833A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340886.1:p.Met945Val",
        "hgvsWellDefined": "NP_001340886.1:p.Met945Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690003"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827785548",
      "coordinates": [
        {
          "allele": "G",
          "end": 3089,
          "referenceAllele": "A",
          "start": 3088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353958.2:c.2833A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340887.1:p.Met945Val",
        "hgvsWellDefined": "NP_001340887.1:p.Met945Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690004"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827788508",
      "coordinates": [
        {
          "allele": "G",
          "end": 3221,
          "referenceAllele": "A",
          "start": 3220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353960.2:c.2830A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340889.1:p.Met944Val",
        "hgvsWellDefined": "NP_001340889.1:p.Met944Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690005"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827790354",
      "coordinates": [
        {
          "allele": "G",
          "end": 3291,
          "referenceAllele": "A",
          "start": 3290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353961.2:c.475A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340890.1:p.Met159Val",
        "hgvsWellDefined": "NP_001340890.1:p.Met159Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690006"
    },
    {
      "@id": "http://reg.genome.network/allele/PA145241",
      "coordinates": [
        {
          "allele": "G",
          "end": 3362,
          "referenceAllele": "A",
          "start": 3361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.6:c.2884A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_008851.3:p.Met962Val",
        "hgvsWellDefined": "NP_008851.3:p.Met962Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696855"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3270,
          "referenceAllele": "A",
          "start": 3269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NR_148667.2:n.3270A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704821"
    },
    {
      "@id": "http://reg.genome.network/allele/PA145242",
      "coordinates": [
        {
          "allele": "G",
          "end": 3395,
          "referenceAllele": "A",
          "start": 3394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.4:c.2917A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Met973Val",
        "hgvsWellDefined": "NP_001159435.1:p.Met973Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713154",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674923.1:c.2917A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001165963.4:c.2917A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501589.1:p.Met973Val"
          },
          "RefSeq": {
            "hgvs": "NP_001159435.1:p.Met973Val"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}