{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA349063637",
  "communityStandardTitle": [
    "NM_001165963.4(SCN1A):c.2415+2T>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=816025[alleleid]",
        "alleleId": 816025,
        "preferredName": "NM_001165963.4(SCN1A):c.2415+2T>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/827818",
        "RCV": [
          "RCV001027711"
        ],
        "variationId": 827818
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.166897739A>G?assembly=hg19",
        "id": "chr2:g.166897739A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.166041229A>G?assembly=hg38",
        "id": "chr2:g.166041229A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1574201555",
        "rs": 1574201555
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 166041229,
          "referenceAllele": "A",
          "start": 166041228
        }
      ],
      "hgvs": [
        "NC_000002.12:g.166041229A>G",
        "CM000664.2:g.166041229A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 166897739,
          "referenceAllele": "A",
          "start": 166897738
        }
      ],
      "hgvs": [
        "NC_000002.11:g.166897739A>G",
        "CM000664.1:g.166897739A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 166605985,
          "referenceAllele": "A",
          "start": 166605984
        }
      ],
      "hgvs": [
        "NC_000002.10:g.166605985A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 37411,
          "referenceAllele": "T",
          "start": 37410
        }
      ],
      "hgvs": [
        "NG_011906.1:g.37411T>C",
        "LRG_8:g.37411T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002054"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2558,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2558,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000689288.1:c.*451+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509637.1:n.*451+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832093"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2806,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2806,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000303395.9:c.2415+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303540.4:n.2415+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745029"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2599,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2599,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000635750.1:c.2382+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490799.1:n.2382+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762613"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2684,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2684,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000635776.1:c.2382+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490692.1:n.2382+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762634"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2794,
          "referenceAllele": "T",
          "start": 2793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000636194.1:c.2384T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490288.1:p.Val795Ala",
        "hgvsWellDefined": "ENSP00000490288.1:p.Val795Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762941"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3075,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3075,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000636759.1:c.*2205+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490895.1:n.*2205+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763360"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2667,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2667,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000637968.1:n.2667+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764246"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2862,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2862,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000637988.1:c.2382+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490780.1:n.2382+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764260"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2431,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2431,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000640036.1:c.2382+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491573.1:n.2382+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765301"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2655,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2655,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000641575.1:c.2379+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492917.1:n.2379+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766184"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2569,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2569,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000641603.1:c.2415+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492945.1:n.2415+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766204"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2684,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2684,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000641996.1:c.*1969+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493054.1:n.*1969+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766485"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2634,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2634,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000671940.1:c.*358+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500336.1:n.*358+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773217"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4888,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 4888,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000673490.1:n.4888+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773702"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2893,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2893,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000674923.1:c.2415+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501589.1:n.2415+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774809",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674923.1:c.2415+2T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001165963.4:c.2415+2T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501589.1:n.2415+2T>C"
          },
          "RefSeq": {
            "hgvs": "NP_001159435.1:n.2415+2T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2833,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2833,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000303395.8:c.2415+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303540.4:n.2415+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255312"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2400,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2400,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000375405.7:c.2382+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364554.3:n.2382+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270694"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2331,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2331,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000409050.1:c.2331+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386312.1:n.2331+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281214"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2491,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2491,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000423058.6:c.2415+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407030.2:n.2415+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287573"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2433,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2433,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.1:c.2415+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:n.2415+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014743"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2349,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2349,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165964.1:c.2331+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159436.1:n.2331+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014744"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2642,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2642,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001202435.1:c.2415+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189364.1:n.2415+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017403"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2400,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2400,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.4:c.2382+2T>C",
        "LRG_8t1:c.2382+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_008851.3:n.2382+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031895"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2599,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2599,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511598.1:c.2415+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509900.1:n.2415+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078859"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2814,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2814,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511599.1:c.2415+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509901.1:n.2415+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078860"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2690,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2690,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511600.1:c.2415+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509902.1:n.2415+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078861"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2809,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2809,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511601.1:c.2415+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509903.1:n.2415+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078862"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2722,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2722,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511602.1:c.2415+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509904.1:n.2415+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078863"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2596,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2596,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511603.1:c.2412+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509905.1:n.2412+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078864"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2566,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2566,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511604.1:c.2382+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509906.1:n.2382+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078865"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2563,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2563,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511605.1:c.2379+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509907.1:n.2379+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078866"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2515,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2515,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511606.1:c.2331+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509908.1:n.2331+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078867"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2599,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2599,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511607.1:c.2415+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509909.1:n.2415+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078868"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2599,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2599,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XR_922981.1:n.2599+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS120043"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2912,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2912,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.2:c.2415+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:n.2415+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511667"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2741,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2741,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165964.2:c.2331+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159436.1:n.2331+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511668"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2726,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2726,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001202435.2:c.2415+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189364.1:n.2415+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511850"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2733,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2733,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353948.1:c.2415+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340877.1:n.2415+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522051"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2601,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2601,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353949.1:c.2382+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340878.1:n.2382+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522052"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2693,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2693,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353950.1:c.2382+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340879.1:n.2382+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522053"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2700,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2700,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353951.1:c.2382+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340880.1:n.2382+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522054"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2792,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2792,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353952.1:c.2382+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340881.1:n.2382+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522055"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2789,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2789,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353954.1:c.2379+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340883.1:n.2379+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522056"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2697,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2697,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353955.1:c.2379+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340884.1:n.2379+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522057"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2649,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2649,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353957.1:c.2331+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340886.1:n.2331+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522058"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2642,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2642,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353958.1:c.2331+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340887.1:n.2331+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522059"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2738,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2738,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353960.1:c.2328+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340889.1:n.2328+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522060"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2794,
          "referenceAllele": "T",
          "start": 2793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353961.1:c.-42T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340890.1:n.-42T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522061"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2879,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2879,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.5:c.2382+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_008851.3:n.2382+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525436"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2787,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2787,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NR_148667.1:n.2787+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531272"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2801,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2801,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XR_001738883.1:n.2801+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589320"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2773,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2773,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XR_001738884.1:n.2773+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589321"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2893,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2893,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.3:c.2415+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:n.2415+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678433"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2722,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2722,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165964.3:c.2331+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159436.1:n.2331+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678434"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2671,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2671,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001202435.3:c.2415+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189364.1:n.2415+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679700"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2714,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2714,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353948.2:c.2415+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340877.1:n.2415+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689996"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2546,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2546,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353949.2:c.2382+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340878.1:n.2382+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689997"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2638,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2638,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353950.2:c.2382+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340879.1:n.2382+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689998"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2681,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2681,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353951.2:c.2382+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340880.1:n.2382+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689999"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2773,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2773,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353952.2:c.2382+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340881.1:n.2382+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690000"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2770,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2770,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353954.2:c.2379+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340883.1:n.2379+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2678,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2678,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353955.2:c.2379+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340884.1:n.2379+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2630,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2630,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353957.2:c.2331+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340886.1:n.2331+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690003"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2587,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2587,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353958.2:c.2331+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340887.1:n.2331+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690004"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2719,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2719,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353960.2:c.2328+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340889.1:n.2328+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690005"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2775,
          "referenceAllele": "T",
          "start": 2774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353961.2:c.-42T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340890.1:n.-42T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690006"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2860,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2860,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.6:c.2382+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_008851.3:n.2382+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696855"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2768,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2768,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NR_148667.2:n.2768+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704821"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2893,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2893,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.4:c.2415+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:n.2415+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713154",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674923.1:c.2415+2T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001165963.4:c.2415+2T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501589.1:n.2415+2T>C"
          },
          "RefSeq": {
            "hgvs": "NP_001159435.1:n.2415+2T>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}