{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA317963",
  "communityStandardTitle": [
    "NM_001040142.2(SCN2A):c.4264A>G (p.Lys1422Glu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=201370[alleleid]",
        "alleleId": 201370,
        "preferredName": "NM_001040142.2(SCN2A):c.4264A>G (p.Lys1422Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/206999",
        "RCV": [
          "RCV000189150",
          "RCV001265491",
          "RCV003325951"
        ],
        "variationId": 206999
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.166234116A>G?assembly=hg19",
        "id": "chr2:g.166234116A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.165377606A>G?assembly=hg38",
        "id": "chr2:g.165377606A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/796053137",
        "rs": 796053137
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 165377606,
          "referenceAllele": "A",
          "start": 165377605
        }
      ],
      "hgvs": [
        "NC_000002.12:g.165377606A>G",
        "CM000664.2:g.165377606A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 166234116,
          "referenceAllele": "A",
          "start": 166234115
        }
      ],
      "hgvs": [
        "NC_000002.11:g.166234116A>G",
        "CM000664.1:g.166234116A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 165942362,
          "referenceAllele": "A",
          "start": 165942361
        }
      ],
      "hgvs": [
        "NC_000002.10:g.165942362A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 143205,
          "referenceAllele": "A",
          "start": 143204
        }
      ],
      "hgvs": [
        "NG_008143.1:g.143205A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000889"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4542,
          "referenceAllele": "A",
          "start": 4541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "ENST00000631182.3:c.4264A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486885.1:p.Lys1422Glu",
        "hgvsWellDefined": "ENSP00000486885.1:p.Lys1422Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826623",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000631182.3:c.4264A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001371246.1:c.4264A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000486885.1:p.Lys1422Glu"
          },
          "RefSeq": {
            "hgvs": "NP_001358175.1:p.Lys1422Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4542,
          "referenceAllele": "A",
          "start": 4541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "ENST00000375437.7:c.4264A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364586.2:p.Lys1422Glu",
        "hgvsWellDefined": "ENSP00000364586.2:p.Lys1422Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751612",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375437.7:c.4264A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001040142.2:c.4264A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364586.2:p.Lys1422Glu"
          },
          "RefSeq": {
            "hgvs": "NP_001035232.1:p.Lys1422Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4641,
          "referenceAllele": "A",
          "start": 4640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "ENST00000636071.2:c.4264A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490107.1:p.Lys1422Glu",
        "hgvsWellDefined": "ENSP00000490107.1:p.Lys1422Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762851"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4563,
          "referenceAllele": "A",
          "start": 4562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "ENST00000636135.1:c.*2583A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489821.1:n.*2583A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762897"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4767,
          "referenceAllele": "A",
          "start": 4766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "ENST00000636384.2:c.*2251A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490765.1:n.*2251A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763075"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5216,
          "referenceAllele": "A",
          "start": 5215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "ENST00000636662.2:c.*4787A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489873.1:n.*4787A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763290"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4497,
          "referenceAllele": "A",
          "start": 4496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "ENST00000636769.1:c.*2206A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490800.1:n.*2206A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763366"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4616,
          "referenceAllele": "A",
          "start": 4615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "ENST00000636985.2:c.3868A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490849.1:p.Lys1290Glu",
        "hgvsWellDefined": "ENSP00000490849.1:p.Lys1290Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763522"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4370,
          "referenceAllele": "A",
          "start": 4369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "ENST00000637266.2:c.4264A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490866.1:p.Lys1422Glu",
        "hgvsWellDefined": "ENSP00000490866.1:p.Lys1422Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763740"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4420,
          "referenceAllele": "A",
          "start": 4419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "ENST00000283256.10:c.4264A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000283256.6:p.Lys1422Glu",
        "hgvsWellDefined": "ENSP00000283256.6:p.Lys1422Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253151"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4315,
          "referenceAllele": "A",
          "start": 4314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "ENST00000375427.4:c.4264A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364576.2:p.Lys1422Glu",
        "hgvsWellDefined": "ENSP00000364576.2:p.Lys1422Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270704"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4554,
          "referenceAllele": "A",
          "start": 4553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "ENST00000375437.6:c.4264A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364586.2:p.Lys1422Glu",
        "hgvsWellDefined": "ENSP00000364586.2:p.Lys1422Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270710"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7332,
          "referenceAllele": "A",
          "start": 7331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "ENST00000480032.4:n.7332A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS320280"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4468,
          "referenceAllele": "A",
          "start": 4467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "ENST00000631182.2:c.4264A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486885.1:p.Lys1422Glu",
        "hgvsWellDefined": "ENSP00000486885.1:p.Lys1422Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407485"
    },
    {
      "@id": "http://reg.genome.network/allele/PA094500",
      "coordinates": [
        {
          "allele": "G",
          "end": 4554,
          "referenceAllele": "A",
          "start": 4553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "NM_001040142.1:c.4264A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035232.1:p.Lys1422Glu",
        "hgvsWellDefined": "NP_001035232.1:p.Lys1422Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009521"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825359867",
      "coordinates": [
        {
          "allele": "G",
          "end": 4315,
          "referenceAllele": "A",
          "start": 4314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "NM_001040143.1:c.4264A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035233.1:p.Lys1422Glu",
        "hgvsWellDefined": "NP_001035233.1:p.Lys1422Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009522"
    },
    {
      "@id": "http://reg.genome.network/allele/PA317964",
      "coordinates": [
        {
          "allele": "G",
          "end": 4620,
          "referenceAllele": "A",
          "start": 4619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "NM_021007.2:c.4264A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_066287.2:p.Lys1422Glu",
        "hgvsWellDefined": "NP_066287.2:p.Lys1422Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036761"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4444,
          "referenceAllele": "A",
          "start": 4443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "XM_005246750.2:c.4264A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246807.1:p.Lys1422Glu",
        "hgvsWellDefined": "XP_005246807.1:p.Lys1422Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057775"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4564,
          "referenceAllele": "A",
          "start": 4563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "XM_005246753.2:c.4264A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246810.1:p.Lys1422Glu",
        "hgvsWellDefined": "XP_005246810.1:p.Lys1422Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057776"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4457,
          "referenceAllele": "A",
          "start": 4456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "XM_005246754.3:c.4234A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246811.1:p.Lys1412Glu",
        "hgvsWellDefined": "XP_005246811.1:p.Lys1412Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057777"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3653,
          "referenceAllele": "A",
          "start": 3652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "XM_005246755.3:c.3511A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246812.1:p.Lys1171Glu",
        "hgvsWellDefined": "XP_005246812.1:p.Lys1171Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057778"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4704,
          "referenceAllele": "A",
          "start": 4703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "XM_011511608.1:c.4264A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509910.1:p.Lys1422Glu",
        "hgvsWellDefined": "XP_011509910.1:p.Lys1422Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078869"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4597,
          "referenceAllele": "A",
          "start": 4596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "XM_011511609.1:c.4264A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509911.1:p.Lys1422Glu",
        "hgvsWellDefined": "XP_011509911.1:p.Lys1422Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078870"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4570,
          "referenceAllele": "A",
          "start": 4569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "XM_005246753.3:c.4264A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246810.1:p.Lys1422Glu",
        "hgvsWellDefined": "XP_005246810.1:p.Lys1422Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532689"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4525,
          "referenceAllele": "A",
          "start": 4524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "XM_017004656.1:c.4264A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860145.1:p.Lys1422Glu",
        "hgvsWellDefined": "XP_016860145.1:p.Lys1422Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560106"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4422,
          "referenceAllele": "A",
          "start": 4421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "XM_017004657.1:c.4264A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860146.1:p.Lys1422Glu",
        "hgvsWellDefined": "XP_016860146.1:p.Lys1422Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560107"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4734,
          "referenceAllele": "A",
          "start": 4733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "XM_017004658.1:c.3511A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860147.1:p.Lys1171Glu",
        "hgvsWellDefined": "XP_016860147.1:p.Lys1171Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560108"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3652,
          "referenceAllele": "A",
          "start": 3651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "XM_017004659.1:c.2062A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860148.1:p.Lys688Glu",
        "hgvsWellDefined": "XP_016860148.1:p.Lys688Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560109"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4478,
          "referenceAllele": "A",
          "start": 4477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "XM_024453037.1:c.3511A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308805.1:p.Lys1171Glu",
        "hgvsWellDefined": "XP_024308805.1:p.Lys1171Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586424"
    },
    {
      "@id": "http://reg.genome.network/allele/PA094500",
      "coordinates": [
        {
          "allele": "G",
          "end": 4542,
          "referenceAllele": "A",
          "start": 4541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "NM_001040142.2:c.4264A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035232.1:p.Lys1422Glu",
        "hgvsWellDefined": "NP_001035232.1:p.Lys1422Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663144",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375437.7:c.4264A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001040142.2:c.4264A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364586.2:p.Lys1422Glu"
          },
          "RefSeq": {
            "hgvs": "NP_001035232.1:p.Lys1422Glu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825359867",
      "coordinates": [
        {
          "allele": "G",
          "end": 4661,
          "referenceAllele": "A",
          "start": 4660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "NM_001040143.2:c.4264A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035233.1:p.Lys1422Glu",
        "hgvsWellDefined": "NP_001035233.1:p.Lys1422Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675962"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828472440",
      "coordinates": [
        {
          "allele": "G",
          "end": 4542,
          "referenceAllele": "A",
          "start": 4541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "NM_001371246.1:c.4264A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358175.1:p.Lys1422Glu",
        "hgvsWellDefined": "NP_001358175.1:p.Lys1422Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692751",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000631182.3:c.4264A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001371246.1:c.4264A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000486885.1:p.Lys1422Glu"
          },
          "RefSeq": {
            "hgvs": "NP_001358175.1:p.Lys1422Glu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828475921",
      "coordinates": [
        {
          "allele": "G",
          "end": 4370,
          "referenceAllele": "A",
          "start": 4369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "NM_001371247.1:c.4264A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358176.1:p.Lys1422Glu",
        "hgvsWellDefined": "NP_001358176.1:p.Lys1422Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692752"
    },
    {
      "@id": "http://reg.genome.network/allele/PA317964",
      "coordinates": [
        {
          "allele": "G",
          "end": 4396,
          "referenceAllele": "A",
          "start": 4395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "NM_021007.3:c.4264A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_066287.2:p.Lys1422Glu",
        "hgvsWellDefined": "NP_066287.2:p.Lys1422Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698348"
    }
  ],
  "type": "nucleotide"
}