{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA303087",
  "communityStandardTitle": [
    "NM_001165963.4(SCN1A):c.4351C>A (p.Pro1451Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=187743[alleleid]",
        "alleleId": 187743,
        "preferredName": "NM_001165963.4(SCN1A):c.4351C>A (p.Pro1451Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/189843",
        "RCV": [
          "RCV000180797",
          "RCV002517630"
        ],
        "variationId": 189843
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.166854673G>T?assembly=hg19",
        "id": "chr2:g.166854673G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.165998163G>T?assembly=hg38",
        "id": "chr2:g.165998163G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/794726696",
        "rs": 794726696
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 165998163,
          "referenceAllele": "G",
          "start": 165998162
        }
      ],
      "hgvs": [
        "NC_000002.12:g.165998163G>T",
        "CM000664.2:g.165998163G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 166854673,
          "referenceAllele": "G",
          "start": 166854672
        }
      ],
      "hgvs": [
        "NC_000002.11:g.166854673G>T",
        "CM000664.1:g.166854673G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 166562919,
          "referenceAllele": "G",
          "start": 166562918
        }
      ],
      "hgvs": [
        "NC_000002.10:g.166562919G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 80477,
          "referenceAllele": "C",
          "start": 80476
        }
      ],
      "hgvs": [
        "NG_011906.1:g.80477C>A",
        "LRG_8:g.80477C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002054"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4494,
          "referenceAllele": "C",
          "start": 4493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000689288.1:c.*2387C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509637.1:n.*2387C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832093"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4742,
          "referenceAllele": "C",
          "start": 4741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000303395.9:c.4351C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303540.4:p.Pro1451Thr",
        "hgvsWellDefined": "ENSP00000303540.4:p.Pro1451Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745029"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4535,
          "referenceAllele": "C",
          "start": 4534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000635750.1:c.4318C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490799.1:p.Pro1440Thr",
        "hgvsWellDefined": "ENSP00000490799.1:p.Pro1440Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762613"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4620,
          "referenceAllele": "C",
          "start": 4619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000635776.1:c.4318C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490692.1:p.Pro1440Thr",
        "hgvsWellDefined": "ENSP00000490692.1:p.Pro1440Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762634"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 148,
          "referenceAllele": "C",
          "start": 147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000635893.1:c.148C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489986.1:n.148C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762718"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4744,
          "referenceAllele": "C",
          "start": 4743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000636194.1:c.*1844C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490288.1:n.*1844C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762941"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1213,
          "referenceAllele": "C",
          "start": 1212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000637038.1:c.1213C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763565"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4798,
          "referenceAllele": "C",
          "start": 4797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000637988.1:c.4318C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490780.1:p.Pro1440Thr",
        "hgvsWellDefined": "ENSP00000490780.1:p.Pro1440Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764260"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4367,
          "referenceAllele": "C",
          "start": 4366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000640036.1:c.4318C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491573.1:p.Pro1440Thr",
        "hgvsWellDefined": "ENSP00000491573.1:p.Pro1440Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765301"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4591,
          "referenceAllele": "C",
          "start": 4590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000641575.1:c.4315C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492917.1:p.Pro1439Thr",
        "hgvsWellDefined": "ENSP00000492917.1:p.Pro1439Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766184"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4223,
          "referenceAllele": "C",
          "start": 4222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000641603.1:c.4069C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492945.1:p.Pro1357Thr",
        "hgvsWellDefined": "ENSP00000492945.1:p.Pro1357Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766204"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4620,
          "referenceAllele": "C",
          "start": 4619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000641996.1:c.*3905C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493054.1:n.*3905C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766485"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4570,
          "referenceAllele": "C",
          "start": 4569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000671940.1:c.*2294C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500336.1:n.*2294C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773217"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6824,
          "referenceAllele": "C",
          "start": 6823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000673490.1:n.6824C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773702"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4829,
          "referenceAllele": "C",
          "start": 4828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000674923.1:c.4351C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501589.1:p.Pro1451Thr",
        "hgvsWellDefined": "ENSP00000501589.1:p.Pro1451Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774809",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674923.1:c.4351C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001165963.4:c.4351C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501589.1:p.Pro1451Thr"
          },
          "RefSeq": {
            "hgvs": "NP_001159435.1:p.Pro1451Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4769,
          "referenceAllele": "C",
          "start": 4768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000303395.8:c.4351C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303540.4:p.Pro1451Thr",
        "hgvsWellDefined": "ENSP00000303540.4:p.Pro1451Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255312"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4336,
          "referenceAllele": "C",
          "start": 4335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000375405.7:c.4318C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364554.3:p.Pro1440Thr",
        "hgvsWellDefined": "ENSP00000364554.3:p.Pro1440Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270694"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4267,
          "referenceAllele": "C",
          "start": 4266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000409050.1:c.4267C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386312.1:p.Pro1423Thr",
        "hgvsWellDefined": "ENSP00000386312.1:p.Pro1423Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281214"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4427,
          "referenceAllele": "C",
          "start": 4426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000423058.6:c.4351C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407030.2:p.Pro1451Thr",
        "hgvsWellDefined": "ENSP00000407030.2:p.Pro1451Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287573"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 354,
          "referenceAllele": "C",
          "start": 353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000473295.2:n.354C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS315079"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 504,
          "referenceAllele": "C",
          "start": 503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000491429.1:n.504C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS329030"
    },
    {
      "@id": "http://reg.genome.network/allele/PA303090",
      "coordinates": [
        {
          "allele": "A",
          "end": 4369,
          "referenceAllele": "C",
          "start": 4368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.1:c.4351C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Pro1451Thr",
        "hgvsWellDefined": "NP_001159435.1:p.Pro1451Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014743"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826013372",
      "coordinates": [
        {
          "allele": "A",
          "end": 4285,
          "referenceAllele": "C",
          "start": 4284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165964.1:c.4267C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159436.1:p.Pro1423Thr",
        "hgvsWellDefined": "NP_001159436.1:p.Pro1423Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014744"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826259976",
      "coordinates": [
        {
          "allele": "A",
          "end": 4578,
          "referenceAllele": "C",
          "start": 4577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001202435.1:c.4351C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189364.1:p.Pro1451Thr",
        "hgvsWellDefined": "NP_001189364.1:p.Pro1451Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017403"
    },
    {
      "@id": "http://reg.genome.network/allele/PA303089",
      "coordinates": [
        {
          "allele": "A",
          "end": 4336,
          "referenceAllele": "C",
          "start": 4335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.4:c.4318C>A",
        "LRG_8t1:c.4318C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_008851.3:p.Pro1440Thr",
        "hgvsWellDefined": "NP_008851.3:p.Pro1440Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031895"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 175,
          "endIntronDirection": "-",
          "endIntronOffset": 17449,
          "referenceAllele": "G",
          "start": 175,
          "startIntronDirection": "-",
          "startIntronOffset": 17450
        }
      ],
      "hgvs": [
        "NR_110598.1:n.176-17450G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS054761"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4535,
          "referenceAllele": "C",
          "start": 4534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511598.1:c.4351C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509900.1:p.Pro1451Thr",
        "hgvsWellDefined": "XP_011509900.1:p.Pro1451Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078859"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4750,
          "referenceAllele": "C",
          "start": 4749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511599.1:c.4351C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509901.1:p.Pro1451Thr",
        "hgvsWellDefined": "XP_011509901.1:p.Pro1451Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078860"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4626,
          "referenceAllele": "C",
          "start": 4625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511600.1:c.4351C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509902.1:p.Pro1451Thr",
        "hgvsWellDefined": "XP_011509902.1:p.Pro1451Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078861"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4745,
          "referenceAllele": "C",
          "start": 4744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511601.1:c.4351C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509903.1:p.Pro1451Thr",
        "hgvsWellDefined": "XP_011509903.1:p.Pro1451Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078862"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4658,
          "referenceAllele": "C",
          "start": 4657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511602.1:c.4351C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509904.1:p.Pro1451Thr",
        "hgvsWellDefined": "XP_011509904.1:p.Pro1451Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078863"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4532,
          "referenceAllele": "C",
          "start": 4531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511603.1:c.4348C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509905.1:p.Pro1450Thr",
        "hgvsWellDefined": "XP_011509905.1:p.Pro1450Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078864"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4502,
          "referenceAllele": "C",
          "start": 4501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511604.1:c.4318C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509906.1:p.Pro1440Thr",
        "hgvsWellDefined": "XP_011509906.1:p.Pro1440Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078865"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4499,
          "referenceAllele": "C",
          "start": 4498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511605.1:c.4315C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509907.1:p.Pro1439Thr",
        "hgvsWellDefined": "XP_011509907.1:p.Pro1439Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078866"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4451,
          "referenceAllele": "C",
          "start": 4450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511606.1:c.4267C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509908.1:p.Pro1423Thr",
        "hgvsWellDefined": "XP_011509908.1:p.Pro1423Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078867"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4253,
          "referenceAllele": "C",
          "start": 4252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511607.1:c.4069C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509909.1:p.Pro1357Thr",
        "hgvsWellDefined": "XP_011509909.1:p.Pro1357Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078868"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4599,
          "referenceAllele": "C",
          "start": 4598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XR_922981.1:n.4599C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS120043"
    },
    {
      "@id": "http://reg.genome.network/allele/PA303090",
      "coordinates": [
        {
          "allele": "A",
          "end": 4848,
          "referenceAllele": "C",
          "start": 4847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.2:c.4351C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Pro1451Thr",
        "hgvsWellDefined": "NP_001159435.1:p.Pro1451Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511667"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826013372",
      "coordinates": [
        {
          "allele": "A",
          "end": 4677,
          "referenceAllele": "C",
          "start": 4676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165964.2:c.4267C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159436.1:p.Pro1423Thr",
        "hgvsWellDefined": "NP_001159436.1:p.Pro1423Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511668"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826259976",
      "coordinates": [
        {
          "allele": "A",
          "end": 4662,
          "referenceAllele": "C",
          "start": 4661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001202435.2:c.4351C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189364.1:p.Pro1451Thr",
        "hgvsWellDefined": "NP_001189364.1:p.Pro1451Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511850"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827753677",
      "coordinates": [
        {
          "allele": "A",
          "end": 4669,
          "referenceAllele": "C",
          "start": 4668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353948.1:c.4351C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340877.1:p.Pro1451Thr",
        "hgvsWellDefined": "NP_001340877.1:p.Pro1451Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522051"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827760242",
      "coordinates": [
        {
          "allele": "A",
          "end": 4537,
          "referenceAllele": "C",
          "start": 4536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353949.1:c.4318C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340878.1:p.Pro1440Thr",
        "hgvsWellDefined": "NP_001340878.1:p.Pro1440Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522052"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827766835",
      "coordinates": [
        {
          "allele": "A",
          "end": 4629,
          "referenceAllele": "C",
          "start": 4628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353950.1:c.4318C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340879.1:p.Pro1440Thr",
        "hgvsWellDefined": "NP_001340879.1:p.Pro1440Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522053"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827771345",
      "coordinates": [
        {
          "allele": "A",
          "end": 4636,
          "referenceAllele": "C",
          "start": 4635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353951.1:c.4318C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340880.1:p.Pro1440Thr",
        "hgvsWellDefined": "NP_001340880.1:p.Pro1440Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522054"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827774335",
      "coordinates": [
        {
          "allele": "A",
          "end": 4728,
          "referenceAllele": "C",
          "start": 4727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353952.1:c.4318C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340881.1:p.Pro1440Thr",
        "hgvsWellDefined": "NP_001340881.1:p.Pro1440Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522055"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827777320",
      "coordinates": [
        {
          "allele": "A",
          "end": 4725,
          "referenceAllele": "C",
          "start": 4724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353954.1:c.4315C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340883.1:p.Pro1439Thr",
        "hgvsWellDefined": "NP_001340883.1:p.Pro1439Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522056"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827780307",
      "coordinates": [
        {
          "allele": "A",
          "end": 4633,
          "referenceAllele": "C",
          "start": 4632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353955.1:c.4315C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340884.1:p.Pro1439Thr",
        "hgvsWellDefined": "NP_001340884.1:p.Pro1439Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522057"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827783277",
      "coordinates": [
        {
          "allele": "A",
          "end": 4585,
          "referenceAllele": "C",
          "start": 4584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353957.1:c.4267C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340886.1:p.Pro1423Thr",
        "hgvsWellDefined": "NP_001340886.1:p.Pro1423Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522058"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827786240",
      "coordinates": [
        {
          "allele": "A",
          "end": 4578,
          "referenceAllele": "C",
          "start": 4577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353958.1:c.4267C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340887.1:p.Pro1423Thr",
        "hgvsWellDefined": "NP_001340887.1:p.Pro1423Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522059"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827789212",
      "coordinates": [
        {
          "allele": "A",
          "end": 4674,
          "referenceAllele": "C",
          "start": 4673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353960.1:c.4264C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340889.1:p.Pro1422Thr",
        "hgvsWellDefined": "NP_001340889.1:p.Pro1422Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522060"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916036803",
      "coordinates": [
        {
          "allele": "A",
          "end": 4744,
          "referenceAllele": "C",
          "start": 4743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353961.1:c.1909C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340890.1:p.Pro637Thr",
        "hgvsWellDefined": "NP_001340890.1:p.Pro637Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522061"
    },
    {
      "@id": "http://reg.genome.network/allele/PA303089",
      "coordinates": [
        {
          "allele": "A",
          "end": 4815,
          "referenceAllele": "C",
          "start": 4814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.5:c.4318C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_008851.3:p.Pro1440Thr",
        "hgvsWellDefined": "NP_008851.3:p.Pro1440Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525436"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4787,
          "referenceAllele": "C",
          "start": 4786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NR_148667.1:n.4787C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531272"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4801,
          "referenceAllele": "C",
          "start": 4800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XR_001738883.1:n.4801C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589320"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4773,
          "referenceAllele": "C",
          "start": 4772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XR_001738884.1:n.4773C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589321"
    },
    {
      "@id": "http://reg.genome.network/allele/PA303090",
      "coordinates": [
        {
          "allele": "A",
          "end": 4829,
          "referenceAllele": "C",
          "start": 4828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.3:c.4351C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Pro1451Thr",
        "hgvsWellDefined": "NP_001159435.1:p.Pro1451Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678433"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826013372",
      "coordinates": [
        {
          "allele": "A",
          "end": 4658,
          "referenceAllele": "C",
          "start": 4657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165964.3:c.4267C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159436.1:p.Pro1423Thr",
        "hgvsWellDefined": "NP_001159436.1:p.Pro1423Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678434"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826259976",
      "coordinates": [
        {
          "allele": "A",
          "end": 4607,
          "referenceAllele": "C",
          "start": 4606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001202435.3:c.4351C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189364.1:p.Pro1451Thr",
        "hgvsWellDefined": "NP_001189364.1:p.Pro1451Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679700"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827753677",
      "coordinates": [
        {
          "allele": "A",
          "end": 4650,
          "referenceAllele": "C",
          "start": 4649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353948.2:c.4351C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340877.1:p.Pro1451Thr",
        "hgvsWellDefined": "NP_001340877.1:p.Pro1451Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689996"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827760242",
      "coordinates": [
        {
          "allele": "A",
          "end": 4482,
          "referenceAllele": "C",
          "start": 4481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353949.2:c.4318C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340878.1:p.Pro1440Thr",
        "hgvsWellDefined": "NP_001340878.1:p.Pro1440Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827766835",
      "coordinates": [
        {
          "allele": "A",
          "end": 4574,
          "referenceAllele": "C",
          "start": 4573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353950.2:c.4318C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340879.1:p.Pro1440Thr",
        "hgvsWellDefined": "NP_001340879.1:p.Pro1440Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689998"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827771345",
      "coordinates": [
        {
          "allele": "A",
          "end": 4617,
          "referenceAllele": "C",
          "start": 4616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353951.2:c.4318C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340880.1:p.Pro1440Thr",
        "hgvsWellDefined": "NP_001340880.1:p.Pro1440Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689999"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827774335",
      "coordinates": [
        {
          "allele": "A",
          "end": 4709,
          "referenceAllele": "C",
          "start": 4708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353952.2:c.4318C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340881.1:p.Pro1440Thr",
        "hgvsWellDefined": "NP_001340881.1:p.Pro1440Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690000"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827777320",
      "coordinates": [
        {
          "allele": "A",
          "end": 4706,
          "referenceAllele": "C",
          "start": 4705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353954.2:c.4315C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340883.1:p.Pro1439Thr",
        "hgvsWellDefined": "NP_001340883.1:p.Pro1439Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690001"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827780307",
      "coordinates": [
        {
          "allele": "A",
          "end": 4614,
          "referenceAllele": "C",
          "start": 4613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353955.2:c.4315C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340884.1:p.Pro1439Thr",
        "hgvsWellDefined": "NP_001340884.1:p.Pro1439Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690002"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827783277",
      "coordinates": [
        {
          "allele": "A",
          "end": 4566,
          "referenceAllele": "C",
          "start": 4565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353957.2:c.4267C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340886.1:p.Pro1423Thr",
        "hgvsWellDefined": "NP_001340886.1:p.Pro1423Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690003"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827786240",
      "coordinates": [
        {
          "allele": "A",
          "end": 4523,
          "referenceAllele": "C",
          "start": 4522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353958.2:c.4267C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340887.1:p.Pro1423Thr",
        "hgvsWellDefined": "NP_001340887.1:p.Pro1423Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690004"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827789212",
      "coordinates": [
        {
          "allele": "A",
          "end": 4655,
          "referenceAllele": "C",
          "start": 4654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353960.2:c.4264C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340889.1:p.Pro1422Thr",
        "hgvsWellDefined": "NP_001340889.1:p.Pro1422Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690005"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916036803",
      "coordinates": [
        {
          "allele": "A",
          "end": 4725,
          "referenceAllele": "C",
          "start": 4724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353961.2:c.1909C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340890.1:p.Pro637Thr",
        "hgvsWellDefined": "NP_001340890.1:p.Pro637Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690006"
    },
    {
      "@id": "http://reg.genome.network/allele/PA303089",
      "coordinates": [
        {
          "allele": "A",
          "end": 4796,
          "referenceAllele": "C",
          "start": 4795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.6:c.4318C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_008851.3:p.Pro1440Thr",
        "hgvsWellDefined": "NP_008851.3:p.Pro1440Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696855"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4768,
          "referenceAllele": "C",
          "start": 4767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NR_148667.2:n.4768C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704821"
    },
    {
      "@id": "http://reg.genome.network/allele/PA303090",
      "coordinates": [
        {
          "allele": "A",
          "end": 4829,
          "referenceAllele": "C",
          "start": 4828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.4:c.4351C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Pro1451Thr",
        "hgvsWellDefined": "NP_001159435.1:p.Pro1451Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713154",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674923.1:c.4351C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001165963.4:c.4351C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501589.1:p.Pro1451Thr"
          },
          "RefSeq": {
            "hgvs": "NP_001159435.1:p.Pro1451Thr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}