{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10612411",
  "communityStandardTitle": [
    "NM_001040142.2(SCN2A):c.3043G>A (p.Asp1015Asn)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3312470",
        "active": true,
        "id": "COSM3312470"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3312471",
        "active": true,
        "id": "COSM3312471"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=284642[alleleid]",
        "alleleId": 284642,
        "preferredName": "NM_001040142.2(SCN2A):c.3043G>A (p.Asp1015Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/331730",
        "RCV": [
          "RCV000381893",
          "RCV000807119",
          "RCV001848674",
          "RCV001764302"
        ],
        "variationId": 331730
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.166210825G>A?assembly=hg19",
        "id": "chr2:g.166210825G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.165354315G>A?assembly=hg38",
        "id": "chr2:g.165354315G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/747451714",
        "rs": 747451714
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-166210825-G-A?dataset=gnomad_r2_1",
        "id": "2-166210825-G-A",
        "variant": "2:166210825 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-165354315-G-A?dataset=gnomad_r3",
        "id": "2-165354315-G-A",
        "variant": "2:165354315 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-165354315-G-A?dataset=gnomad_r4",
        "id": "2-165354315-G-A",
        "variant": "2:165354315 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 165354315,
          "referenceAllele": "G",
          "start": 165354314
        }
      ],
      "hgvs": [
        "NC_000002.12:g.165354315G>A",
        "CM000664.2:g.165354315G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 166210825,
          "referenceAllele": "G",
          "start": 166210824
        }
      ],
      "hgvs": [
        "NC_000002.11:g.166210825G>A",
        "CM000664.1:g.166210825G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 165919071,
          "referenceAllele": "G",
          "start": 165919070
        }
      ],
      "hgvs": [
        "NC_000002.10:g.165919071G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 119914,
          "referenceAllele": "G",
          "start": 119913
        }
      ],
      "hgvs": [
        "NG_008143.1:g.119914G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000889"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3321,
          "referenceAllele": "G",
          "start": 3320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "ENST00000631182.3:c.3043G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486885.1:p.Asp1015Asn",
        "hgvsWellDefined": "ENSP00000486885.1:p.Asp1015Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826623",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000631182.3:c.3043G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001371246.1:c.3043G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000486885.1:p.Asp1015Asn"
          },
          "RefSeq": {
            "hgvs": "NP_001358175.1:p.Asp1015Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3321,
          "referenceAllele": "G",
          "start": 3320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "ENST00000375437.7:c.3043G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364586.2:p.Asp1015Asn",
        "hgvsWellDefined": "ENSP00000364586.2:p.Asp1015Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751612",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375437.7:c.3043G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001040142.2:c.3043G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364586.2:p.Asp1015Asn"
          },
          "RefSeq": {
            "hgvs": "NP_001035232.1:p.Asp1015Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3420,
          "referenceAllele": "G",
          "start": 3419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "ENST00000636071.2:c.3043G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490107.1:p.Asp1015Asn",
        "hgvsWellDefined": "ENSP00000490107.1:p.Asp1015Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762851"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3342,
          "referenceAllele": "G",
          "start": 3341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "ENST00000636135.1:c.*1362G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489821.1:n.*1362G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762897"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3546,
          "referenceAllele": "G",
          "start": 3545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "ENST00000636384.2:c.*1030G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490765.1:n.*1030G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763075"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3995,
          "referenceAllele": "G",
          "start": 3994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "ENST00000636662.2:c.*3566G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489873.1:n.*3566G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763290"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3276,
          "referenceAllele": "G",
          "start": 3275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "ENST00000636769.1:c.*985G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490800.1:n.*985G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763366"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3395,
          "referenceAllele": "G",
          "start": 3394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "ENST00000636985.2:c.2647G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490849.1:p.Asp883Asn",
        "hgvsWellDefined": "ENSP00000490849.1:p.Asp883Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763522"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3149,
          "referenceAllele": "G",
          "start": 3148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "ENST00000637266.2:c.3043G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490866.1:p.Asp1015Asn",
        "hgvsWellDefined": "ENSP00000490866.1:p.Asp1015Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763740"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 789,
          "referenceAllele": "G",
          "start": 788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "ENST00000673831.1:c.789G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501305.1:n.789G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773902"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 608,
          "referenceAllele": "G",
          "start": 607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "ENST00000673883.1:c.608G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501309.1:n.608G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773941"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 894,
          "referenceAllele": "G",
          "start": 893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "ENST00000674133.1:c.894G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774151"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3199,
          "referenceAllele": "G",
          "start": 3198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "ENST00000283256.10:c.3043G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000283256.6:p.Asp1015Asn",
        "hgvsWellDefined": "ENSP00000283256.6:p.Asp1015Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253151"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3094,
          "referenceAllele": "G",
          "start": 3093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "ENST00000375427.4:c.3043G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364576.2:p.Asp1015Asn",
        "hgvsWellDefined": "ENSP00000364576.2:p.Asp1015Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270704"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3333,
          "referenceAllele": "G",
          "start": 3332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "ENST00000375437.6:c.3043G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364586.2:p.Asp1015Asn",
        "hgvsWellDefined": "ENSP00000364586.2:p.Asp1015Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270710"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3186,
          "referenceAllele": "G",
          "start": 3185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "ENST00000480032.4:n.3186G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS320280"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3247,
          "referenceAllele": "G",
          "start": 3246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "ENST00000631182.2:c.3043G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486885.1:p.Asp1015Asn",
        "hgvsWellDefined": "ENSP00000486885.1:p.Asp1015Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407485"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825355298",
      "coordinates": [
        {
          "allele": "A",
          "end": 3333,
          "referenceAllele": "G",
          "start": 3332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "NM_001040142.1:c.3043G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035232.1:p.Asp1015Asn",
        "hgvsWellDefined": "NP_001035232.1:p.Asp1015Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009521"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825359213",
      "coordinates": [
        {
          "allele": "A",
          "end": 3094,
          "referenceAllele": "G",
          "start": 3093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "NM_001040143.1:c.3043G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035233.1:p.Asp1015Asn",
        "hgvsWellDefined": "NP_001035233.1:p.Asp1015Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009522"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645407683",
      "coordinates": [
        {
          "allele": "A",
          "end": 3399,
          "referenceAllele": "G",
          "start": 3398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "NM_021007.2:c.3043G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_066287.2:p.Asp1015Asn",
        "hgvsWellDefined": "NP_066287.2:p.Asp1015Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036761"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3223,
          "referenceAllele": "G",
          "start": 3222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "XM_005246750.2:c.3043G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246807.1:p.Asp1015Asn",
        "hgvsWellDefined": "XP_005246807.1:p.Asp1015Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057775"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3343,
          "referenceAllele": "G",
          "start": 3342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "XM_005246753.2:c.3043G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246810.1:p.Asp1015Asn",
        "hgvsWellDefined": "XP_005246810.1:p.Asp1015Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057776"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3236,
          "referenceAllele": "G",
          "start": 3235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "XM_005246754.3:c.3013G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246811.1:p.Asp1005Asn",
        "hgvsWellDefined": "XP_005246811.1:p.Asp1005Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057777"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2432,
          "referenceAllele": "G",
          "start": 2431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "XM_005246755.3:c.2290G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246812.1:p.Asp764Asn",
        "hgvsWellDefined": "XP_005246812.1:p.Asp764Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057778"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3483,
          "referenceAllele": "G",
          "start": 3482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "XM_011511608.1:c.3043G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509910.1:p.Asp1015Asn",
        "hgvsWellDefined": "XP_011509910.1:p.Asp1015Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078869"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3376,
          "referenceAllele": "G",
          "start": 3375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "XM_011511609.1:c.3043G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509911.1:p.Asp1015Asn",
        "hgvsWellDefined": "XP_011509911.1:p.Asp1015Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078870"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3349,
          "referenceAllele": "G",
          "start": 3348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "XM_005246753.3:c.3043G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246810.1:p.Asp1015Asn",
        "hgvsWellDefined": "XP_005246810.1:p.Asp1015Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532689"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3304,
          "referenceAllele": "G",
          "start": 3303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "XM_017004656.1:c.3043G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860145.1:p.Asp1015Asn",
        "hgvsWellDefined": "XP_016860145.1:p.Asp1015Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560106"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3201,
          "referenceAllele": "G",
          "start": 3200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "XM_017004657.1:c.3043G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860146.1:p.Asp1015Asn",
        "hgvsWellDefined": "XP_016860146.1:p.Asp1015Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560107"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3513,
          "referenceAllele": "G",
          "start": 3512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "XM_017004658.1:c.2290G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860147.1:p.Asp764Asn",
        "hgvsWellDefined": "XP_016860147.1:p.Asp764Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560108"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2431,
          "referenceAllele": "G",
          "start": 2430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "XM_017004659.1:c.841G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860148.1:p.Asp281Asn",
        "hgvsWellDefined": "XP_016860148.1:p.Asp281Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560109"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3257,
          "referenceAllele": "G",
          "start": 3256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "XM_024453037.1:c.2290G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308805.1:p.Asp764Asn",
        "hgvsWellDefined": "XP_024308805.1:p.Asp764Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586424"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825355298",
      "coordinates": [
        {
          "allele": "A",
          "end": 3321,
          "referenceAllele": "G",
          "start": 3320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "NM_001040142.2:c.3043G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035232.1:p.Asp1015Asn",
        "hgvsWellDefined": "NP_001035232.1:p.Asp1015Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663144",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375437.7:c.3043G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001040142.2:c.3043G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364586.2:p.Asp1015Asn"
          },
          "RefSeq": {
            "hgvs": "NP_001035232.1:p.Asp1015Asn"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825359213",
      "coordinates": [
        {
          "allele": "A",
          "end": 3440,
          "referenceAllele": "G",
          "start": 3439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "NM_001040143.2:c.3043G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035233.1:p.Asp1015Asn",
        "hgvsWellDefined": "NP_001035233.1:p.Asp1015Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675962"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828471769",
      "coordinates": [
        {
          "allele": "A",
          "end": 3321,
          "referenceAllele": "G",
          "start": 3320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "NM_001371246.1:c.3043G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358175.1:p.Asp1015Asn",
        "hgvsWellDefined": "NP_001358175.1:p.Asp1015Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692751",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000631182.3:c.3043G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001371246.1:c.3043G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000486885.1:p.Asp1015Asn"
          },
          "RefSeq": {
            "hgvs": "NP_001358175.1:p.Asp1015Asn"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828475203",
      "coordinates": [
        {
          "allele": "A",
          "end": 3149,
          "referenceAllele": "G",
          "start": 3148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "NM_001371247.1:c.3043G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358176.1:p.Asp1015Asn",
        "hgvsWellDefined": "NP_001358176.1:p.Asp1015Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692752"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645407683",
      "coordinates": [
        {
          "allele": "A",
          "end": 3175,
          "referenceAllele": "G",
          "start": 3174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "NM_021007.3:c.3043G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_066287.2:p.Asp1015Asn",
        "hgvsWellDefined": "NP_066287.2:p.Asp1015Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698348"
    }
  ],
  "type": "nucleotide"
}