{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA349049615",
  "communityStandardTitle": [
    "NM_001165963.4(SCN1A):c.4300T>A (p.Trp1434Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1015869[alleleid]",
        "alleleId": 1015869,
        "preferredName": "NM_001165963.4(SCN1A):c.4300T>A (p.Trp1434Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1027787",
        "RCV": [
          "RCV001328668",
          "RCV001507578"
        ],
        "variationId": 1027787
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.166856271A>T?assembly=hg19",
        "id": "chr2:g.166856271A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.165999761A>T?assembly=hg38",
        "id": "chr2:g.165999761A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121918789",
        "rs": 121918789
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 165999761,
          "referenceAllele": "A",
          "start": 165999760
        }
      ],
      "hgvs": [
        "NC_000002.12:g.165999761A>T",
        "CM000664.2:g.165999761A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 166856271,
          "referenceAllele": "A",
          "start": 166856270
        }
      ],
      "hgvs": [
        "NC_000002.11:g.166856271A>T",
        "CM000664.1:g.166856271A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 166564517,
          "referenceAllele": "A",
          "start": 166564516
        }
      ],
      "hgvs": [
        "NC_000002.10:g.166564517A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 78879,
          "referenceAllele": "T",
          "start": 78878
        }
      ],
      "hgvs": [
        "NG_011906.1:g.78879T>A",
        "LRG_8:g.78879T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002054"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4443,
          "referenceAllele": "T",
          "start": 4442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000689288.1:c.*2336T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509637.1:n.*2336T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832093"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4691,
          "referenceAllele": "T",
          "start": 4690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000303395.9:c.4300T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303540.4:p.Trp1434Arg",
        "hgvsWellDefined": "ENSP00000303540.4:p.Trp1434Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745029"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4484,
          "referenceAllele": "T",
          "start": 4483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000635750.1:c.4267T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490799.1:p.Trp1423Arg",
        "hgvsWellDefined": "ENSP00000490799.1:p.Trp1423Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762613"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4569,
          "referenceAllele": "T",
          "start": 4568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000635776.1:c.4267T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490692.1:p.Trp1423Arg",
        "hgvsWellDefined": "ENSP00000490692.1:p.Trp1423Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762634"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 31,
          "referenceAllele": "T",
          "start": 30
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000635893.1:c.31T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489986.1:p.Trp11Arg",
        "hgvsWellDefined": "ENSP00000489986.1:p.Trp11Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762718"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4693,
          "referenceAllele": "T",
          "start": 4692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000636194.1:c.*1793T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490288.1:n.*1793T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762941"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1162,
          "referenceAllele": "T",
          "start": 1161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000637038.1:c.1162T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763565"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4747,
          "referenceAllele": "T",
          "start": 4746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000637988.1:c.4267T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490780.1:p.Trp1423Arg",
        "hgvsWellDefined": "ENSP00000490780.1:p.Trp1423Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764260"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4316,
          "referenceAllele": "T",
          "start": 4315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000640036.1:c.4267T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491573.1:p.Trp1423Arg",
        "hgvsWellDefined": "ENSP00000491573.1:p.Trp1423Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765301"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4540,
          "referenceAllele": "T",
          "start": 4539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000641575.1:c.4264T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492917.1:p.Trp1422Arg",
        "hgvsWellDefined": "ENSP00000492917.1:p.Trp1422Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766184"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4172,
          "referenceAllele": "T",
          "start": 4171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000641603.1:c.4018T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492945.1:p.Trp1340Arg",
        "hgvsWellDefined": "ENSP00000492945.1:p.Trp1340Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766204"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4569,
          "referenceAllele": "T",
          "start": 4568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000641996.1:c.*3854T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493054.1:n.*3854T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766485"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4519,
          "referenceAllele": "T",
          "start": 4518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000671940.1:c.*2243T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500336.1:n.*2243T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773217"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6773,
          "referenceAllele": "T",
          "start": 6772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000673490.1:n.6773T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773702"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4778,
          "referenceAllele": "T",
          "start": 4777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000674923.1:c.4300T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501589.1:p.Trp1434Arg",
        "hgvsWellDefined": "ENSP00000501589.1:p.Trp1434Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774809",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674923.1:c.4300T>A"
          },
          "RefSeq": {
            "hgvs": "NM_001165963.4:c.4300T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501589.1:p.Trp1434Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001159435.1:p.Trp1434Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4718,
          "referenceAllele": "T",
          "start": 4717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000303395.8:c.4300T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303540.4:p.Trp1434Arg",
        "hgvsWellDefined": "ENSP00000303540.4:p.Trp1434Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255312"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4285,
          "referenceAllele": "T",
          "start": 4284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000375405.7:c.4267T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364554.3:p.Trp1423Arg",
        "hgvsWellDefined": "ENSP00000364554.3:p.Trp1423Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270694"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4216,
          "referenceAllele": "T",
          "start": 4215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000409050.1:c.4216T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386312.1:p.Trp1406Arg",
        "hgvsWellDefined": "ENSP00000386312.1:p.Trp1406Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281214"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4376,
          "referenceAllele": "T",
          "start": 4375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000423058.6:c.4300T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407030.2:p.Trp1434Arg",
        "hgvsWellDefined": "ENSP00000407030.2:p.Trp1434Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287573"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 303,
          "referenceAllele": "T",
          "start": 302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000473295.2:n.303T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS315079"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 453,
          "referenceAllele": "T",
          "start": 452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000491429.1:n.453T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS329030"
    },
    {
      "@id": "http://reg.genome.network/allele/PA108511",
      "coordinates": [
        {
          "allele": "A",
          "end": 4318,
          "referenceAllele": "T",
          "start": 4317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.1:c.4300T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Trp1434Arg",
        "hgvsWellDefined": "NP_001159435.1:p.Trp1434Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014743"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826013337",
      "coordinates": [
        {
          "allele": "A",
          "end": 4234,
          "referenceAllele": "T",
          "start": 4233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165964.1:c.4216T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159436.1:p.Trp1406Arg",
        "hgvsWellDefined": "NP_001159436.1:p.Trp1406Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014744"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826259942",
      "coordinates": [
        {
          "allele": "A",
          "end": 4527,
          "referenceAllele": "T",
          "start": 4526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001202435.1:c.4300T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189364.1:p.Trp1434Arg",
        "hgvsWellDefined": "NP_001189364.1:p.Trp1434Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017403"
    },
    {
      "@id": "http://reg.genome.network/allele/PA285167",
      "coordinates": [
        {
          "allele": "A",
          "end": 4285,
          "referenceAllele": "T",
          "start": 4284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.4:c.4267T>A",
        "LRG_8t1:c.4267T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_008851.3:p.Trp1423Arg",
        "hgvsWellDefined": "NP_008851.3:p.Trp1423Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031895"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 175,
          "endIntronDirection": "-",
          "endIntronOffset": 15851,
          "referenceAllele": "A",
          "start": 175,
          "startIntronDirection": "-",
          "startIntronOffset": 15852
        }
      ],
      "hgvs": [
        "NR_110598.1:n.176-15852A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS054761"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4484,
          "referenceAllele": "T",
          "start": 4483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511598.1:c.4300T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509900.1:p.Trp1434Arg",
        "hgvsWellDefined": "XP_011509900.1:p.Trp1434Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078859"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4699,
          "referenceAllele": "T",
          "start": 4698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511599.1:c.4300T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509901.1:p.Trp1434Arg",
        "hgvsWellDefined": "XP_011509901.1:p.Trp1434Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078860"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4575,
          "referenceAllele": "T",
          "start": 4574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511600.1:c.4300T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509902.1:p.Trp1434Arg",
        "hgvsWellDefined": "XP_011509902.1:p.Trp1434Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078861"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4694,
          "referenceAllele": "T",
          "start": 4693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511601.1:c.4300T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509903.1:p.Trp1434Arg",
        "hgvsWellDefined": "XP_011509903.1:p.Trp1434Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078862"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4607,
          "referenceAllele": "T",
          "start": 4606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511602.1:c.4300T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509904.1:p.Trp1434Arg",
        "hgvsWellDefined": "XP_011509904.1:p.Trp1434Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078863"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4481,
          "referenceAllele": "T",
          "start": 4480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511603.1:c.4297T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509905.1:p.Trp1433Arg",
        "hgvsWellDefined": "XP_011509905.1:p.Trp1433Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078864"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4451,
          "referenceAllele": "T",
          "start": 4450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511604.1:c.4267T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509906.1:p.Trp1423Arg",
        "hgvsWellDefined": "XP_011509906.1:p.Trp1423Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078865"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4448,
          "referenceAllele": "T",
          "start": 4447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511605.1:c.4264T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509907.1:p.Trp1422Arg",
        "hgvsWellDefined": "XP_011509907.1:p.Trp1422Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078866"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4400,
          "referenceAllele": "T",
          "start": 4399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511606.1:c.4216T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509908.1:p.Trp1406Arg",
        "hgvsWellDefined": "XP_011509908.1:p.Trp1406Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078867"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4202,
          "referenceAllele": "T",
          "start": 4201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511607.1:c.4018T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509909.1:p.Trp1340Arg",
        "hgvsWellDefined": "XP_011509909.1:p.Trp1340Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078868"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4548,
          "referenceAllele": "T",
          "start": 4547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XR_922981.1:n.4548T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS120043"
    },
    {
      "@id": "http://reg.genome.network/allele/PA108511",
      "coordinates": [
        {
          "allele": "A",
          "end": 4797,
          "referenceAllele": "T",
          "start": 4796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.2:c.4300T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Trp1434Arg",
        "hgvsWellDefined": "NP_001159435.1:p.Trp1434Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511667"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826013337",
      "coordinates": [
        {
          "allele": "A",
          "end": 4626,
          "referenceAllele": "T",
          "start": 4625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165964.2:c.4216T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159436.1:p.Trp1406Arg",
        "hgvsWellDefined": "NP_001159436.1:p.Trp1406Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511668"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826259942",
      "coordinates": [
        {
          "allele": "A",
          "end": 4611,
          "referenceAllele": "T",
          "start": 4610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001202435.2:c.4300T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189364.1:p.Trp1434Arg",
        "hgvsWellDefined": "NP_001189364.1:p.Trp1434Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511850"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827753588",
      "coordinates": [
        {
          "allele": "A",
          "end": 4618,
          "referenceAllele": "T",
          "start": 4617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353948.1:c.4300T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340877.1:p.Trp1434Arg",
        "hgvsWellDefined": "NP_001340877.1:p.Trp1434Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522051"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827760161",
      "coordinates": [
        {
          "allele": "A",
          "end": 4486,
          "referenceAllele": "T",
          "start": 4485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353949.1:c.4267T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340878.1:p.Trp1423Arg",
        "hgvsWellDefined": "NP_001340878.1:p.Trp1423Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522052"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827766755",
      "coordinates": [
        {
          "allele": "A",
          "end": 4578,
          "referenceAllele": "T",
          "start": 4577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353950.1:c.4267T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340879.1:p.Trp1423Arg",
        "hgvsWellDefined": "NP_001340879.1:p.Trp1423Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522053"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827771310",
      "coordinates": [
        {
          "allele": "A",
          "end": 4585,
          "referenceAllele": "T",
          "start": 4584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353951.1:c.4267T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340880.1:p.Trp1423Arg",
        "hgvsWellDefined": "NP_001340880.1:p.Trp1423Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522054"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827774299",
      "coordinates": [
        {
          "allele": "A",
          "end": 4677,
          "referenceAllele": "T",
          "start": 4676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353952.1:c.4267T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340881.1:p.Trp1423Arg",
        "hgvsWellDefined": "NP_001340881.1:p.Trp1423Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522055"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827777286",
      "coordinates": [
        {
          "allele": "A",
          "end": 4674,
          "referenceAllele": "T",
          "start": 4673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353954.1:c.4264T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340883.1:p.Trp1422Arg",
        "hgvsWellDefined": "NP_001340883.1:p.Trp1422Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522056"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827780271",
      "coordinates": [
        {
          "allele": "A",
          "end": 4582,
          "referenceAllele": "T",
          "start": 4581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353955.1:c.4264T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340884.1:p.Trp1422Arg",
        "hgvsWellDefined": "NP_001340884.1:p.Trp1422Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522057"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827783243",
      "coordinates": [
        {
          "allele": "A",
          "end": 4534,
          "referenceAllele": "T",
          "start": 4533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353957.1:c.4216T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340886.1:p.Trp1406Arg",
        "hgvsWellDefined": "NP_001340886.1:p.Trp1406Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522058"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827786205",
      "coordinates": [
        {
          "allele": "A",
          "end": 4527,
          "referenceAllele": "T",
          "start": 4526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353958.1:c.4216T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340887.1:p.Trp1406Arg",
        "hgvsWellDefined": "NP_001340887.1:p.Trp1406Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522059"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827789176",
      "coordinates": [
        {
          "allele": "A",
          "end": 4623,
          "referenceAllele": "T",
          "start": 4622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353960.1:c.4213T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340889.1:p.Trp1405Arg",
        "hgvsWellDefined": "NP_001340889.1:p.Trp1405Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522060"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916036792",
      "coordinates": [
        {
          "allele": "A",
          "end": 4693,
          "referenceAllele": "T",
          "start": 4692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353961.1:c.1858T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340890.1:p.Trp620Arg",
        "hgvsWellDefined": "NP_001340890.1:p.Trp620Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522061"
    },
    {
      "@id": "http://reg.genome.network/allele/PA285167",
      "coordinates": [
        {
          "allele": "A",
          "end": 4764,
          "referenceAllele": "T",
          "start": 4763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.5:c.4267T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_008851.3:p.Trp1423Arg",
        "hgvsWellDefined": "NP_008851.3:p.Trp1423Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525436"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4736,
          "referenceAllele": "T",
          "start": 4735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NR_148667.1:n.4736T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531272"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4750,
          "referenceAllele": "T",
          "start": 4749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XR_001738883.1:n.4750T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589320"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4722,
          "referenceAllele": "T",
          "start": 4721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XR_001738884.1:n.4722T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589321"
    },
    {
      "@id": "http://reg.genome.network/allele/PA108511",
      "coordinates": [
        {
          "allele": "A",
          "end": 4778,
          "referenceAllele": "T",
          "start": 4777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.3:c.4300T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Trp1434Arg",
        "hgvsWellDefined": "NP_001159435.1:p.Trp1434Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678433"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826013337",
      "coordinates": [
        {
          "allele": "A",
          "end": 4607,
          "referenceAllele": "T",
          "start": 4606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165964.3:c.4216T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159436.1:p.Trp1406Arg",
        "hgvsWellDefined": "NP_001159436.1:p.Trp1406Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678434"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826259942",
      "coordinates": [
        {
          "allele": "A",
          "end": 4556,
          "referenceAllele": "T",
          "start": 4555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001202435.3:c.4300T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189364.1:p.Trp1434Arg",
        "hgvsWellDefined": "NP_001189364.1:p.Trp1434Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679700"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827753588",
      "coordinates": [
        {
          "allele": "A",
          "end": 4599,
          "referenceAllele": "T",
          "start": 4598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353948.2:c.4300T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340877.1:p.Trp1434Arg",
        "hgvsWellDefined": "NP_001340877.1:p.Trp1434Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689996"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827760161",
      "coordinates": [
        {
          "allele": "A",
          "end": 4431,
          "referenceAllele": "T",
          "start": 4430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353949.2:c.4267T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340878.1:p.Trp1423Arg",
        "hgvsWellDefined": "NP_001340878.1:p.Trp1423Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827766755",
      "coordinates": [
        {
          "allele": "A",
          "end": 4523,
          "referenceAllele": "T",
          "start": 4522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353950.2:c.4267T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340879.1:p.Trp1423Arg",
        "hgvsWellDefined": "NP_001340879.1:p.Trp1423Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689998"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827771310",
      "coordinates": [
        {
          "allele": "A",
          "end": 4566,
          "referenceAllele": "T",
          "start": 4565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353951.2:c.4267T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340880.1:p.Trp1423Arg",
        "hgvsWellDefined": "NP_001340880.1:p.Trp1423Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689999"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827774299",
      "coordinates": [
        {
          "allele": "A",
          "end": 4658,
          "referenceAllele": "T",
          "start": 4657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353952.2:c.4267T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340881.1:p.Trp1423Arg",
        "hgvsWellDefined": "NP_001340881.1:p.Trp1423Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690000"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827777286",
      "coordinates": [
        {
          "allele": "A",
          "end": 4655,
          "referenceAllele": "T",
          "start": 4654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353954.2:c.4264T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340883.1:p.Trp1422Arg",
        "hgvsWellDefined": "NP_001340883.1:p.Trp1422Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690001"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827780271",
      "coordinates": [
        {
          "allele": "A",
          "end": 4563,
          "referenceAllele": "T",
          "start": 4562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353955.2:c.4264T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340884.1:p.Trp1422Arg",
        "hgvsWellDefined": "NP_001340884.1:p.Trp1422Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690002"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827783243",
      "coordinates": [
        {
          "allele": "A",
          "end": 4515,
          "referenceAllele": "T",
          "start": 4514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353957.2:c.4216T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340886.1:p.Trp1406Arg",
        "hgvsWellDefined": "NP_001340886.1:p.Trp1406Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690003"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827786205",
      "coordinates": [
        {
          "allele": "A",
          "end": 4472,
          "referenceAllele": "T",
          "start": 4471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353958.2:c.4216T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340887.1:p.Trp1406Arg",
        "hgvsWellDefined": "NP_001340887.1:p.Trp1406Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690004"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827789176",
      "coordinates": [
        {
          "allele": "A",
          "end": 4604,
          "referenceAllele": "T",
          "start": 4603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353960.2:c.4213T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340889.1:p.Trp1405Arg",
        "hgvsWellDefined": "NP_001340889.1:p.Trp1405Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690005"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916036792",
      "coordinates": [
        {
          "allele": "A",
          "end": 4674,
          "referenceAllele": "T",
          "start": 4673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353961.2:c.1858T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340890.1:p.Trp620Arg",
        "hgvsWellDefined": "NP_001340890.1:p.Trp620Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690006"
    },
    {
      "@id": "http://reg.genome.network/allele/PA285167",
      "coordinates": [
        {
          "allele": "A",
          "end": 4745,
          "referenceAllele": "T",
          "start": 4744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.6:c.4267T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_008851.3:p.Trp1423Arg",
        "hgvsWellDefined": "NP_008851.3:p.Trp1423Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696855"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4717,
          "referenceAllele": "T",
          "start": 4716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NR_148667.2:n.4717T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704821"
    },
    {
      "@id": "http://reg.genome.network/allele/PA108511",
      "coordinates": [
        {
          "allele": "A",
          "end": 4778,
          "referenceAllele": "T",
          "start": 4777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.4:c.4300T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Trp1434Arg",
        "hgvsWellDefined": "NP_001159435.1:p.Trp1434Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713154",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674923.1:c.4300T>A"
          },
          "RefSeq": {
            "hgvs": "NM_001165963.4:c.4300T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501589.1:p.Trp1434Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001159435.1:p.Trp1434Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}