{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA349049554",
  "communityStandardTitle": [
    "NM_001165963.4(SCN1A):c.4327G>A (p.Asp1443Asn)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=790092[alleleid]",
        "alleleId": 790092,
        "preferredName": "NM_001165963.4(SCN1A):c.4327G>A (p.Asp1443Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/801795",
        "RCV": [
          "RCV000986880"
        ],
        "variationId": 801795
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.166856244C>T?assembly=hg19",
        "id": "chr2:g.166856244C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.165999734C>T?assembly=hg38",
        "id": "chr2:g.165999734C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1573991676",
        "rs": 1573991676
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 165999734,
          "referenceAllele": "C",
          "start": 165999733
        }
      ],
      "hgvs": [
        "NC_000002.12:g.165999734C>T",
        "CM000664.2:g.165999734C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 166856244,
          "referenceAllele": "C",
          "start": 166856243
        }
      ],
      "hgvs": [
        "NC_000002.11:g.166856244C>T",
        "CM000664.1:g.166856244C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 166564490,
          "referenceAllele": "C",
          "start": 166564489
        }
      ],
      "hgvs": [
        "NC_000002.10:g.166564490C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 78906,
          "referenceAllele": "G",
          "start": 78905
        }
      ],
      "hgvs": [
        "NG_011906.1:g.78906G>A",
        "LRG_8:g.78906G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002054"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4470,
          "referenceAllele": "G",
          "start": 4469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000689288.1:c.*2363G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509637.1:n.*2363G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832093"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4718,
          "referenceAllele": "G",
          "start": 4717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000303395.9:c.4327G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303540.4:p.Asp1443Asn",
        "hgvsWellDefined": "ENSP00000303540.4:p.Asp1443Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745029"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4511,
          "referenceAllele": "G",
          "start": 4510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000635750.1:c.4294G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490799.1:p.Asp1432Asn",
        "hgvsWellDefined": "ENSP00000490799.1:p.Asp1432Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762613"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4596,
          "referenceAllele": "G",
          "start": 4595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000635776.1:c.4294G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490692.1:p.Asp1432Asn",
        "hgvsWellDefined": "ENSP00000490692.1:p.Asp1432Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762634"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 58,
          "referenceAllele": "G",
          "start": 57
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000635893.1:c.58G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489986.1:p.Asp20Asn",
        "hgvsWellDefined": "ENSP00000489986.1:p.Asp20Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762718"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4720,
          "referenceAllele": "G",
          "start": 4719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000636194.1:c.*1820G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490288.1:n.*1820G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762941"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1189,
          "referenceAllele": "G",
          "start": 1188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000637038.1:c.1189G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763565"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4774,
          "referenceAllele": "G",
          "start": 4773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000637988.1:c.4294G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490780.1:p.Asp1432Asn",
        "hgvsWellDefined": "ENSP00000490780.1:p.Asp1432Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764260"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4343,
          "referenceAllele": "G",
          "start": 4342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000640036.1:c.4294G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491573.1:p.Asp1432Asn",
        "hgvsWellDefined": "ENSP00000491573.1:p.Asp1432Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765301"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4567,
          "referenceAllele": "G",
          "start": 4566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000641575.1:c.4291G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492917.1:p.Asp1431Asn",
        "hgvsWellDefined": "ENSP00000492917.1:p.Asp1431Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766184"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4199,
          "referenceAllele": "G",
          "start": 4198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000641603.1:c.4045G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492945.1:p.Asp1349Asn",
        "hgvsWellDefined": "ENSP00000492945.1:p.Asp1349Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766204"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4596,
          "referenceAllele": "G",
          "start": 4595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000641996.1:c.*3881G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493054.1:n.*3881G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766485"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4546,
          "referenceAllele": "G",
          "start": 4545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000671940.1:c.*2270G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500336.1:n.*2270G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773217"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6800,
          "referenceAllele": "G",
          "start": 6799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000673490.1:n.6800G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773702"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4805,
          "referenceAllele": "G",
          "start": 4804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000674923.1:c.4327G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501589.1:p.Asp1443Asn",
        "hgvsWellDefined": "ENSP00000501589.1:p.Asp1443Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774809",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674923.1:c.4327G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001165963.4:c.4327G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501589.1:p.Asp1443Asn"
          },
          "RefSeq": {
            "hgvs": "NP_001159435.1:p.Asp1443Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4745,
          "referenceAllele": "G",
          "start": 4744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000303395.8:c.4327G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303540.4:p.Asp1443Asn",
        "hgvsWellDefined": "ENSP00000303540.4:p.Asp1443Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255312"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4312,
          "referenceAllele": "G",
          "start": 4311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000375405.7:c.4294G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364554.3:p.Asp1432Asn",
        "hgvsWellDefined": "ENSP00000364554.3:p.Asp1432Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270694"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4243,
          "referenceAllele": "G",
          "start": 4242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000409050.1:c.4243G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386312.1:p.Asp1415Asn",
        "hgvsWellDefined": "ENSP00000386312.1:p.Asp1415Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281214"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4403,
          "referenceAllele": "G",
          "start": 4402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000423058.6:c.4327G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407030.2:p.Asp1443Asn",
        "hgvsWellDefined": "ENSP00000407030.2:p.Asp1443Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287573"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 330,
          "referenceAllele": "G",
          "start": 329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000473295.2:n.330G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS315079"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 480,
          "referenceAllele": "G",
          "start": 479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000491429.1:n.480G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS329030"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826010397",
      "coordinates": [
        {
          "allele": "A",
          "end": 4345,
          "referenceAllele": "G",
          "start": 4344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.1:c.4327G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Asp1443Asn",
        "hgvsWellDefined": "NP_001159435.1:p.Asp1443Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014743"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826013354",
      "coordinates": [
        {
          "allele": "A",
          "end": 4261,
          "referenceAllele": "G",
          "start": 4260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165964.1:c.4243G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159436.1:p.Asp1415Asn",
        "hgvsWellDefined": "NP_001159436.1:p.Asp1415Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014744"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826259959",
      "coordinates": [
        {
          "allele": "A",
          "end": 4554,
          "referenceAllele": "G",
          "start": 4553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001202435.1:c.4327G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189364.1:p.Asp1443Asn",
        "hgvsWellDefined": "NP_001189364.1:p.Asp1443Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017403"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829675999",
      "coordinates": [
        {
          "allele": "A",
          "end": 4312,
          "referenceAllele": "G",
          "start": 4311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.4:c.4294G>A",
        "LRG_8t1:c.4294G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_008851.3:p.Asp1432Asn",
        "hgvsWellDefined": "NP_008851.3:p.Asp1432Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031895"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 175,
          "endIntronDirection": "-",
          "endIntronOffset": 15878,
          "referenceAllele": "C",
          "start": 175,
          "startIntronDirection": "-",
          "startIntronOffset": 15879
        }
      ],
      "hgvs": [
        "NR_110598.1:n.176-15879C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS054761"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4511,
          "referenceAllele": "G",
          "start": 4510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511598.1:c.4327G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509900.1:p.Asp1443Asn",
        "hgvsWellDefined": "XP_011509900.1:p.Asp1443Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078859"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4726,
          "referenceAllele": "G",
          "start": 4725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511599.1:c.4327G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509901.1:p.Asp1443Asn",
        "hgvsWellDefined": "XP_011509901.1:p.Asp1443Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078860"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4602,
          "referenceAllele": "G",
          "start": 4601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511600.1:c.4327G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509902.1:p.Asp1443Asn",
        "hgvsWellDefined": "XP_011509902.1:p.Asp1443Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078861"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4721,
          "referenceAllele": "G",
          "start": 4720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511601.1:c.4327G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509903.1:p.Asp1443Asn",
        "hgvsWellDefined": "XP_011509903.1:p.Asp1443Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078862"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4634,
          "referenceAllele": "G",
          "start": 4633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511602.1:c.4327G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509904.1:p.Asp1443Asn",
        "hgvsWellDefined": "XP_011509904.1:p.Asp1443Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078863"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4508,
          "referenceAllele": "G",
          "start": 4507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511603.1:c.4324G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509905.1:p.Asp1442Asn",
        "hgvsWellDefined": "XP_011509905.1:p.Asp1442Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078864"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4478,
          "referenceAllele": "G",
          "start": 4477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511604.1:c.4294G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509906.1:p.Asp1432Asn",
        "hgvsWellDefined": "XP_011509906.1:p.Asp1432Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078865"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4475,
          "referenceAllele": "G",
          "start": 4474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511605.1:c.4291G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509907.1:p.Asp1431Asn",
        "hgvsWellDefined": "XP_011509907.1:p.Asp1431Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078866"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4427,
          "referenceAllele": "G",
          "start": 4426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511606.1:c.4243G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509908.1:p.Asp1415Asn",
        "hgvsWellDefined": "XP_011509908.1:p.Asp1415Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078867"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4229,
          "referenceAllele": "G",
          "start": 4228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511607.1:c.4045G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509909.1:p.Asp1349Asn",
        "hgvsWellDefined": "XP_011509909.1:p.Asp1349Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078868"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4575,
          "referenceAllele": "G",
          "start": 4574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XR_922981.1:n.4575G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS120043"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826010397",
      "coordinates": [
        {
          "allele": "A",
          "end": 4824,
          "referenceAllele": "G",
          "start": 4823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.2:c.4327G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Asp1443Asn",
        "hgvsWellDefined": "NP_001159435.1:p.Asp1443Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511667"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826013354",
      "coordinates": [
        {
          "allele": "A",
          "end": 4653,
          "referenceAllele": "G",
          "start": 4652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165964.2:c.4243G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159436.1:p.Asp1415Asn",
        "hgvsWellDefined": "NP_001159436.1:p.Asp1415Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511668"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826259959",
      "coordinates": [
        {
          "allele": "A",
          "end": 4638,
          "referenceAllele": "G",
          "start": 4637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001202435.2:c.4327G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189364.1:p.Asp1443Asn",
        "hgvsWellDefined": "NP_001189364.1:p.Asp1443Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511850"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827753630",
      "coordinates": [
        {
          "allele": "A",
          "end": 4645,
          "referenceAllele": "G",
          "start": 4644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353948.1:c.4327G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340877.1:p.Asp1443Asn",
        "hgvsWellDefined": "NP_001340877.1:p.Asp1443Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522051"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827760200",
      "coordinates": [
        {
          "allele": "A",
          "end": 4513,
          "referenceAllele": "G",
          "start": 4512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353949.1:c.4294G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340878.1:p.Asp1432Asn",
        "hgvsWellDefined": "NP_001340878.1:p.Asp1432Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522052"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827766793",
      "coordinates": [
        {
          "allele": "A",
          "end": 4605,
          "referenceAllele": "G",
          "start": 4604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353950.1:c.4294G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340879.1:p.Asp1432Asn",
        "hgvsWellDefined": "NP_001340879.1:p.Asp1432Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522053"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827771328",
      "coordinates": [
        {
          "allele": "A",
          "end": 4612,
          "referenceAllele": "G",
          "start": 4611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353951.1:c.4294G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340880.1:p.Asp1432Asn",
        "hgvsWellDefined": "NP_001340880.1:p.Asp1432Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522054"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827774316",
      "coordinates": [
        {
          "allele": "A",
          "end": 4704,
          "referenceAllele": "G",
          "start": 4703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353952.1:c.4294G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340881.1:p.Asp1432Asn",
        "hgvsWellDefined": "NP_001340881.1:p.Asp1432Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522055"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827777303",
      "coordinates": [
        {
          "allele": "A",
          "end": 4701,
          "referenceAllele": "G",
          "start": 4700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353954.1:c.4291G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340883.1:p.Asp1431Asn",
        "hgvsWellDefined": "NP_001340883.1:p.Asp1431Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522056"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827780289",
      "coordinates": [
        {
          "allele": "A",
          "end": 4609,
          "referenceAllele": "G",
          "start": 4608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353955.1:c.4291G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340884.1:p.Asp1431Asn",
        "hgvsWellDefined": "NP_001340884.1:p.Asp1431Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522057"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827783261",
      "coordinates": [
        {
          "allele": "A",
          "end": 4561,
          "referenceAllele": "G",
          "start": 4560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353957.1:c.4243G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340886.1:p.Asp1415Asn",
        "hgvsWellDefined": "NP_001340886.1:p.Asp1415Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522058"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827786223",
      "coordinates": [
        {
          "allele": "A",
          "end": 4554,
          "referenceAllele": "G",
          "start": 4553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353958.1:c.4243G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340887.1:p.Asp1415Asn",
        "hgvsWellDefined": "NP_001340887.1:p.Asp1415Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522059"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827789194",
      "coordinates": [
        {
          "allele": "A",
          "end": 4650,
          "referenceAllele": "G",
          "start": 4649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353960.1:c.4240G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340889.1:p.Asp1414Asn",
        "hgvsWellDefined": "NP_001340889.1:p.Asp1414Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522060"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916036797",
      "coordinates": [
        {
          "allele": "A",
          "end": 4720,
          "referenceAllele": "G",
          "start": 4719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353961.1:c.1885G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340890.1:p.Asp629Asn",
        "hgvsWellDefined": "NP_001340890.1:p.Asp629Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522061"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829675999",
      "coordinates": [
        {
          "allele": "A",
          "end": 4791,
          "referenceAllele": "G",
          "start": 4790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.5:c.4294G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_008851.3:p.Asp1432Asn",
        "hgvsWellDefined": "NP_008851.3:p.Asp1432Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525436"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4763,
          "referenceAllele": "G",
          "start": 4762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NR_148667.1:n.4763G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531272"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4777,
          "referenceAllele": "G",
          "start": 4776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XR_001738883.1:n.4777G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589320"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4749,
          "referenceAllele": "G",
          "start": 4748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XR_001738884.1:n.4749G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589321"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826010397",
      "coordinates": [
        {
          "allele": "A",
          "end": 4805,
          "referenceAllele": "G",
          "start": 4804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.3:c.4327G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Asp1443Asn",
        "hgvsWellDefined": "NP_001159435.1:p.Asp1443Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678433"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826013354",
      "coordinates": [
        {
          "allele": "A",
          "end": 4634,
          "referenceAllele": "G",
          "start": 4633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165964.3:c.4243G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159436.1:p.Asp1415Asn",
        "hgvsWellDefined": "NP_001159436.1:p.Asp1415Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678434"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826259959",
      "coordinates": [
        {
          "allele": "A",
          "end": 4583,
          "referenceAllele": "G",
          "start": 4582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001202435.3:c.4327G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189364.1:p.Asp1443Asn",
        "hgvsWellDefined": "NP_001189364.1:p.Asp1443Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679700"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827753630",
      "coordinates": [
        {
          "allele": "A",
          "end": 4626,
          "referenceAllele": "G",
          "start": 4625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353948.2:c.4327G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340877.1:p.Asp1443Asn",
        "hgvsWellDefined": "NP_001340877.1:p.Asp1443Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689996"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827760200",
      "coordinates": [
        {
          "allele": "A",
          "end": 4458,
          "referenceAllele": "G",
          "start": 4457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353949.2:c.4294G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340878.1:p.Asp1432Asn",
        "hgvsWellDefined": "NP_001340878.1:p.Asp1432Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827766793",
      "coordinates": [
        {
          "allele": "A",
          "end": 4550,
          "referenceAllele": "G",
          "start": 4549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353950.2:c.4294G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340879.1:p.Asp1432Asn",
        "hgvsWellDefined": "NP_001340879.1:p.Asp1432Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689998"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827771328",
      "coordinates": [
        {
          "allele": "A",
          "end": 4593,
          "referenceAllele": "G",
          "start": 4592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353951.2:c.4294G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340880.1:p.Asp1432Asn",
        "hgvsWellDefined": "NP_001340880.1:p.Asp1432Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689999"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827774316",
      "coordinates": [
        {
          "allele": "A",
          "end": 4685,
          "referenceAllele": "G",
          "start": 4684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353952.2:c.4294G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340881.1:p.Asp1432Asn",
        "hgvsWellDefined": "NP_001340881.1:p.Asp1432Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690000"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827777303",
      "coordinates": [
        {
          "allele": "A",
          "end": 4682,
          "referenceAllele": "G",
          "start": 4681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353954.2:c.4291G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340883.1:p.Asp1431Asn",
        "hgvsWellDefined": "NP_001340883.1:p.Asp1431Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690001"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827780289",
      "coordinates": [
        {
          "allele": "A",
          "end": 4590,
          "referenceAllele": "G",
          "start": 4589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353955.2:c.4291G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340884.1:p.Asp1431Asn",
        "hgvsWellDefined": "NP_001340884.1:p.Asp1431Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690002"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827783261",
      "coordinates": [
        {
          "allele": "A",
          "end": 4542,
          "referenceAllele": "G",
          "start": 4541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353957.2:c.4243G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340886.1:p.Asp1415Asn",
        "hgvsWellDefined": "NP_001340886.1:p.Asp1415Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690003"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827786223",
      "coordinates": [
        {
          "allele": "A",
          "end": 4499,
          "referenceAllele": "G",
          "start": 4498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353958.2:c.4243G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340887.1:p.Asp1415Asn",
        "hgvsWellDefined": "NP_001340887.1:p.Asp1415Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690004"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827789194",
      "coordinates": [
        {
          "allele": "A",
          "end": 4631,
          "referenceAllele": "G",
          "start": 4630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353960.2:c.4240G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340889.1:p.Asp1414Asn",
        "hgvsWellDefined": "NP_001340889.1:p.Asp1414Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690005"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916036797",
      "coordinates": [
        {
          "allele": "A",
          "end": 4701,
          "referenceAllele": "G",
          "start": 4700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353961.2:c.1885G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340890.1:p.Asp629Asn",
        "hgvsWellDefined": "NP_001340890.1:p.Asp629Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690006"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829675999",
      "coordinates": [
        {
          "allele": "A",
          "end": 4772,
          "referenceAllele": "G",
          "start": 4771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.6:c.4294G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_008851.3:p.Asp1432Asn",
        "hgvsWellDefined": "NP_008851.3:p.Asp1432Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696855"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4744,
          "referenceAllele": "G",
          "start": 4743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NR_148667.2:n.4744G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704821"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826010397",
      "coordinates": [
        {
          "allele": "A",
          "end": 4805,
          "referenceAllele": "G",
          "start": 4804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.4:c.4327G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Asp1443Asn",
        "hgvsWellDefined": "NP_001159435.1:p.Asp1443Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713154",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674923.1:c.4327G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001165963.4:c.4327G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501589.1:p.Asp1443Asn"
          },
          "RefSeq": {
            "hgvs": "NP_001159435.1:p.Asp1443Asn"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}