{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA349026262",
  "communityStandardTitle": [
    "NM_001040142.2(SCN2A):c.3632A>G (p.Glu1211Gly)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.166223838A>G?assembly=hg19",
        "id": "chr2:g.166223838A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.165367328A>G?assembly=hg38",
        "id": "chr2:g.165367328A>G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 165367328,
          "referenceAllele": "A",
          "start": 165367327
        }
      ],
      "hgvs": [
        "NC_000002.12:g.165367328A>G",
        "CM000664.2:g.165367328A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 166223838,
          "referenceAllele": "A",
          "start": 166223837
        }
      ],
      "hgvs": [
        "NC_000002.11:g.166223838A>G",
        "CM000664.1:g.166223838A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 165932084,
          "referenceAllele": "A",
          "start": 165932083
        }
      ],
      "hgvs": [
        "NC_000002.10:g.165932084A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 132927,
          "referenceAllele": "A",
          "start": 132926
        }
      ],
      "hgvs": [
        "NG_008143.1:g.132927A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000889"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3910,
          "referenceAllele": "A",
          "start": 3909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "ENST00000631182.3:c.3632A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486885.1:p.Glu1211Gly",
        "hgvsWellDefined": "ENSP00000486885.1:p.Glu1211Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826623",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000631182.3:c.3632A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001371246.1:c.3632A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000486885.1:p.Glu1211Gly"
          },
          "RefSeq": {
            "hgvs": "NP_001358175.1:p.Glu1211Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3910,
          "referenceAllele": "A",
          "start": 3909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "ENST00000375437.7:c.3632A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364586.2:p.Glu1211Gly",
        "hgvsWellDefined": "ENSP00000364586.2:p.Glu1211Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751612",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375437.7:c.3632A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001040142.2:c.3632A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364586.2:p.Glu1211Gly"
          },
          "RefSeq": {
            "hgvs": "NP_001035232.1:p.Glu1211Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4009,
          "referenceAllele": "A",
          "start": 4008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "ENST00000636071.2:c.3632A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490107.1:p.Glu1211Gly",
        "hgvsWellDefined": "ENSP00000490107.1:p.Glu1211Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762851"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3931,
          "referenceAllele": "A",
          "start": 3930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "ENST00000636135.1:c.*1951A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489821.1:n.*1951A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762897"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4135,
          "referenceAllele": "A",
          "start": 4134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "ENST00000636384.2:c.*1619A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490765.1:n.*1619A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763075"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4584,
          "referenceAllele": "A",
          "start": 4583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "ENST00000636662.2:c.*4155A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489873.1:n.*4155A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763290"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3865,
          "referenceAllele": "A",
          "start": 3864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "ENST00000636769.1:c.*1574A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490800.1:n.*1574A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763366"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3984,
          "referenceAllele": "A",
          "start": 3983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "ENST00000636985.2:c.3236A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490849.1:p.Glu1079Gly",
        "hgvsWellDefined": "ENSP00000490849.1:p.Glu1079Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763522"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3738,
          "referenceAllele": "A",
          "start": 3737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "ENST00000637266.2:c.3632A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490866.1:p.Glu1211Gly",
        "hgvsWellDefined": "ENSP00000490866.1:p.Glu1211Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763740"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3788,
          "referenceAllele": "A",
          "start": 3787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "ENST00000283256.10:c.3632A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000283256.6:p.Glu1211Gly",
        "hgvsWellDefined": "ENSP00000283256.6:p.Glu1211Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253151"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3683,
          "referenceAllele": "A",
          "start": 3682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "ENST00000375427.4:c.3632A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364576.2:p.Glu1211Gly",
        "hgvsWellDefined": "ENSP00000364576.2:p.Glu1211Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270704"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3922,
          "referenceAllele": "A",
          "start": 3921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "ENST00000375437.6:c.3632A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364586.2:p.Glu1211Gly",
        "hgvsWellDefined": "ENSP00000364586.2:p.Glu1211Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270710"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3775,
          "referenceAllele": "A",
          "start": 3774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "ENST00000480032.4:n.3775A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS320280"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3836,
          "referenceAllele": "A",
          "start": 3835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "ENST00000631182.2:c.3632A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486885.1:p.Glu1211Gly",
        "hgvsWellDefined": "ENSP00000486885.1:p.Glu1211Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407485"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3922,
          "referenceAllele": "A",
          "start": 3921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "NM_001040142.1:c.3632A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035232.1:p.Glu1211Gly",
        "hgvsWellDefined": "NP_001035232.1:p.Glu1211Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009521"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3683,
          "referenceAllele": "A",
          "start": 3682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "NM_001040143.1:c.3632A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035233.1:p.Glu1211Gly",
        "hgvsWellDefined": "NP_001035233.1:p.Glu1211Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009522"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3988,
          "referenceAllele": "A",
          "start": 3987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "NM_021007.2:c.3632A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_066287.2:p.Glu1211Gly",
        "hgvsWellDefined": "NP_066287.2:p.Glu1211Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036761"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3812,
          "referenceAllele": "A",
          "start": 3811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "XM_005246750.2:c.3632A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246807.1:p.Glu1211Gly",
        "hgvsWellDefined": "XP_005246807.1:p.Glu1211Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057775"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3932,
          "referenceAllele": "A",
          "start": 3931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "XM_005246753.2:c.3632A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246810.1:p.Glu1211Gly",
        "hgvsWellDefined": "XP_005246810.1:p.Glu1211Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057776"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3825,
          "referenceAllele": "A",
          "start": 3824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "XM_005246754.3:c.3602A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246811.1:p.Glu1201Gly",
        "hgvsWellDefined": "XP_005246811.1:p.Glu1201Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057777"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3021,
          "referenceAllele": "A",
          "start": 3020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "XM_005246755.3:c.2879A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246812.1:p.Glu960Gly",
        "hgvsWellDefined": "XP_005246812.1:p.Glu960Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057778"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4072,
          "referenceAllele": "A",
          "start": 4071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "XM_011511608.1:c.3632A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509910.1:p.Glu1211Gly",
        "hgvsWellDefined": "XP_011509910.1:p.Glu1211Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078869"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3965,
          "referenceAllele": "A",
          "start": 3964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "XM_011511609.1:c.3632A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509911.1:p.Glu1211Gly",
        "hgvsWellDefined": "XP_011509911.1:p.Glu1211Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078870"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3938,
          "referenceAllele": "A",
          "start": 3937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "XM_005246753.3:c.3632A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246810.1:p.Glu1211Gly",
        "hgvsWellDefined": "XP_005246810.1:p.Glu1211Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532689"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3893,
          "referenceAllele": "A",
          "start": 3892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "XM_017004656.1:c.3632A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860145.1:p.Glu1211Gly",
        "hgvsWellDefined": "XP_016860145.1:p.Glu1211Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560106"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3790,
          "referenceAllele": "A",
          "start": 3789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "XM_017004657.1:c.3632A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860146.1:p.Glu1211Gly",
        "hgvsWellDefined": "XP_016860146.1:p.Glu1211Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560107"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4102,
          "referenceAllele": "A",
          "start": 4101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "XM_017004658.1:c.2879A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860147.1:p.Glu960Gly",
        "hgvsWellDefined": "XP_016860147.1:p.Glu960Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560108"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3020,
          "referenceAllele": "A",
          "start": 3019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "XM_017004659.1:c.1430A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860148.1:p.Glu477Gly",
        "hgvsWellDefined": "XP_016860148.1:p.Glu477Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560109"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3846,
          "referenceAllele": "A",
          "start": 3845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "XM_024453037.1:c.2879A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308805.1:p.Glu960Gly",
        "hgvsWellDefined": "XP_024308805.1:p.Glu960Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586424"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3910,
          "referenceAllele": "A",
          "start": 3909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "NM_001040142.2:c.3632A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035232.1:p.Glu1211Gly",
        "hgvsWellDefined": "NP_001035232.1:p.Glu1211Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663144",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375437.7:c.3632A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001040142.2:c.3632A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364586.2:p.Glu1211Gly"
          },
          "RefSeq": {
            "hgvs": "NP_001035232.1:p.Glu1211Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4029,
          "referenceAllele": "A",
          "start": 4028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "NM_001040143.2:c.3632A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035233.1:p.Glu1211Gly",
        "hgvsWellDefined": "NP_001035233.1:p.Glu1211Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675962"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3910,
          "referenceAllele": "A",
          "start": 3909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "NM_001371246.1:c.3632A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358175.1:p.Glu1211Gly",
        "hgvsWellDefined": "NP_001358175.1:p.Glu1211Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692751",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000631182.3:c.3632A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001371246.1:c.3632A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000486885.1:p.Glu1211Gly"
          },
          "RefSeq": {
            "hgvs": "NP_001358175.1:p.Glu1211Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3738,
          "referenceAllele": "A",
          "start": 3737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "NM_001371247.1:c.3632A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358176.1:p.Glu1211Gly",
        "hgvsWellDefined": "NP_001358176.1:p.Glu1211Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692752"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3764,
          "referenceAllele": "A",
          "start": 3763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "NM_021007.3:c.3632A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_066287.2:p.Glu1211Gly",
        "hgvsWellDefined": "NP_066287.2:p.Glu1211Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698348"
    }
  ],
  "type": "nucleotide"
}