{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA349074425",
  "communityStandardTitle": [
    "NM_001165963.4(SCN1A):c.606C>A (p.Tyr202Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=962860[alleleid]",
        "alleleId": 962860,
        "preferredName": "NM_001165963.4(SCN1A):c.606C>A (p.Tyr202Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/974569",
        "RCV": [
          "RCV001250741"
        ],
        "variationId": 974569
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.166909450G>T?assembly=hg19",
        "id": "chr2:g.166909450G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.166052940G>T?assembly=hg38",
        "id": "chr2:g.166052940G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/374555589",
        "rs": 374555589
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 166052940,
          "referenceAllele": "G",
          "start": 166052939
        }
      ],
      "hgvs": [
        "NC_000002.12:g.166052940G>T",
        "CM000664.2:g.166052940G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 166909450,
          "referenceAllele": "G",
          "start": 166909449
        }
      ],
      "hgvs": [
        "NC_000002.11:g.166909450G>T",
        "CM000664.1:g.166909450G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 166617696,
          "referenceAllele": "G",
          "start": 166617695
        }
      ],
      "hgvs": [
        "NC_000002.10:g.166617696G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25700,
          "referenceAllele": "C",
          "start": 25699
        }
      ],
      "hgvs": [
        "NG_011906.1:g.25700C>A",
        "LRG_8:g.25700C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002054"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 655,
          "referenceAllele": "C",
          "start": 654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000689288.1:c.606C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509637.1:p.Tyr202Ter",
        "hgvsWellDefined": "ENSP00000509637.1:p.Tyr202_Phe685delinsValThrGluPheValAspLeuGlyAsnValSerAlaLeuArgThrPheArgValLeuArgAlaLeuLysThrIleSerValIleProGlyLeuLysThrIleValGlyAlaLeuIleGlnSerValLysLysLeuSerAspValMetIleLeuThrValPheCysLeuSerValPheAlaLeuIleGlyLeuGlnLeuPheMetGlyAsnLeuArgAsnLysCysIleGlnTrpProProThrAsnAlaSerLeuGluGluHisSerIleGluLysAsnIleThrValAsnTyrAsnGlyThrLeuIleAsnGluThrValPheGluPheAspTrpLysSerTyrIleGlnAspSerArgTyrHisTyrPheLeuGluGlyPheLeuAspAlaLeuLeuCysGlyAsnSerSerAspAlaGlyGlnCysProGluGlyTyrMetCysValLysAlaGlyArgAsnProAsnTyrGlyTyrThrSerPheAspThrPheSerTrpAlaPheLeuSerLeuPheArgLeuMetThrGlnAspPheTrpGluAsnLeuTyrGlnLeuThrLeuArgAlaAlaGlyLysThrTyrMetIlePhePheValLeuValIlePheLeuGlySerPheTyrLeuIleAsnLeuIleLeuAlaValValAlaMetAlaTyrGluGluGlnAsnGlnAlaThrLeuGluGluAlaGluGlnLysGluAlaGluPheGlnGlnMetIleGluGlnLeuLysLysGlnGlnGluAlaAlaGlnGlnAlaAlaThrAlaThrAlaSerGluHisSerArgGluProSerAlaAlaGlyArgLeuSerAspSerSerSerGluAlaSerLysLeuSerSerLysSerAlaLysGluArgArgAsnArgArgLysLysArgLysGlnLysGluGlnSerGlyGlyGluGluLysAspGluAspGluPheGlnLysSerGluSerGluAspSerIleArgArgLysGlyPheArgPheSerIleGluGlyAsnArgLeuThrTyrGluLysArgTyrSerSerProHisGlnSerLeuLeuSerIleArgGlySerLeuPheSerProArgArgAsnSerArgThrSerLeuPheSerPheArgGlyArgAlaLysAspValGlySerGluAsnAspPheAlaAspAspGluHisSerThrPheGluAspAsnGluSerArgArgAspSerLeuPheValProArgArgHisGlyGluArgArgAsnSerAsnLeuSerGlnThrSerArgSerSerArgMetLeuAlaValPheProAlaAsnGlyLysMetHisSerThrValAspCysAsnGlyValValSerLeuValGlyGlyProSerValProThrSerProValGlyGlnLeuLeuProGluValIleIleAspLysProAlaThrAspAspAsnValArgLysPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832093"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 997,
          "referenceAllele": "C",
          "start": 996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000303395.9:c.606C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303540.4:p.Tyr202Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745029"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 823,
          "referenceAllele": "C",
          "start": 822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000635750.1:c.606C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490799.1:p.Tyr202Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762613"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 908,
          "referenceAllele": "C",
          "start": 907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000635776.1:c.606C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490692.1:p.Tyr202Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762634"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1016,
          "referenceAllele": "C",
          "start": 1015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000636194.1:c.606C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490288.1:p.Tyr202Ter",
        "hgvsWellDefined": "ENSP00000490288.1:p.Tyr202_Leu829delinsValThrGluPheValAspLeuGlyAsnValSerAlaLeuArgThrPheArgValLeuArgAlaLeuLysThrIleSerValIleProGlyLeuLysThrIleValGlyAlaLeuIleGlnSerValLysLysLeuSerAspValMetIleLeuThrValPheCysLeuSerValPheAlaLeuIleGlyLeuGlnLeuPheMetGlyAsnLeuArgAsnLysCysIleGlnTrpProProThrAsnAlaSerLeuGluGluHisSerIleGluLysAsnIleThrValAsnTyrAsnGlyThrLeuIleAsnGluThrValPheGluPheAspTrpLysSerTyrIleGlnAspSerArgTyrHisTyrPheLeuGluGlyPheLeuAspAlaLeuLeuCysGlyAsnSerSerAspAlaGlyGlnCysProGluGlyTyrMetCysValLysAlaGlyArgAsnProAsnTyrGlyTyrThrSerPheAspThrPheSerTrpAlaPheLeuSerLeuPheArgLeuMetThrGlnAspPheTrpGluAsnLeuTyrGlnLeuThrLeuArgAlaAlaGlyLysThrTyrMetIlePhePheValLeuValIlePheLeuGlySerPheTyrLeuIleAsnLeuIleLeuAlaValValAlaMetAlaTyrGluGluGlnAsnGlnAlaThrLeuGluGluAlaGluGlnLysGluAlaGluPheGlnGlnMetIleGluGlnLeuLysLysGlnGlnGluAlaAlaGlnGlnAlaAlaThrAlaThrAlaSerGluHisSerArgGluProSerAlaAlaGlyArgLeuSerAspSerSerSerGluAlaSerLysLeuSerSerLysSerAlaLysGluArgArgAsnArgArgLysLysArgLysGlnLysGluGlnSerGlyGlyGluGluLysAspGluAspGluPheGlnLysSerGluSerGluAspSerIleArgArgLysGlyPheArgPheSerIleGluGlyAsnArgLeuThrTyrGluLysArgTyrSerSerProHisGlnSerLeuLeuSerIleArgGlySerLeuPheSerProArgArgAsnSerArgThrSerLeuPheSerPheArgGlyArgAlaLysAspValGlySerGluAsnAspPheAlaAspAspGluHisSerThrPheGluAspAsnGluSerArgArgAspSerLeuPheValProArgArgHisGlyGluArgArgAsnSerAsnLeuSerGlnThrSerArgSerSerArgMetLeuAlaValPheProAlaAsnGlyLysMetHisSerThrValAspCysAsnGlyValValSerLeuValGlyGlyProSerValProThrSerProValGlyGlnLeuLeuProGluGlyThrThrThrGluThrGluMetArgLysArgArgSerSerSerPheHisValSerMetAspPheLeuGluAspProSerGlnArgGlnArgAlaMetSerIleAlaSerIleLeuThrAsnThrValGluGluLeuGluGluSerArgGlnLysCysProProCysTrpTyrLysPheSerAsnIlePheLeuIleTrpAspCysSerProTyrTrpLeuLysValLysHisValValAsnLeuValValMetAspProPheValAspLeuAlaIleThrIleCysIleValLeuAsnThrLeuPheMetAlaMetGluHisTyrProMetThrAspHisPheAsnAsnValLeuThrValGlyAsnLeuValSerIleLeuGluGlyPheHisTrpAspLeuTyrSerArgAsnValSerGluAsnTyrCysHisGlySerLeuLeuLeuPheProArgArgLeuGluTyrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762941"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1266,
          "referenceAllele": "C",
          "start": 1265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000636759.1:c.*396C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490895.1:n.*396C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763360"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 858,
          "referenceAllele": "C",
          "start": 857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000637968.1:n.858C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764246"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1086,
          "referenceAllele": "C",
          "start": 1085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000637988.1:c.606C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490780.1:p.Tyr202Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764260"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 743,
          "endIntronDirection": "+",
          "endIntronOffset": 99,
          "referenceAllele": "C",
          "start": 743,
          "startIntronDirection": "+",
          "startIntronOffset": 98
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000640036.1:c.694+99C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491573.1:n.694+99C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765301"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 882,
          "referenceAllele": "C",
          "start": 881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000641575.1:c.606C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492917.1:p.Tyr202Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766184"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 760,
          "referenceAllele": "C",
          "start": 759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000641603.1:c.606C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492945.1:p.Tyr202Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766204"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 875,
          "referenceAllele": "C",
          "start": 874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000641996.1:c.*160C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493054.1:n.*160C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766485"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 992,
          "referenceAllele": "C",
          "start": 991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000671940.1:c.606C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500336.1:p.Tyr202Ter",
        "hgvsWellDefined": "ENSP00000500336.1:p.Tyr202_His629delinsValThrGluPheValAspLeuGlyAsnValSerAlaLeuArgThrPheArgValLeuArgAlaLeuLysThrIleSerValIleProGlyLeuLysThrIleValGlyAlaLeuIleGlnSerValLysLysLeuSerAspValMetIleLeuThrValPheCysLeuSerValPheAlaLeuIleGlyLeuGlnLeuPheMetGlyAsnLeuArgAsnLysCysIleGlnTrpProProThrAsnAlaSerLeuGluGluHisSerIleGluLysAsnIleThrValAsnTyrAsnGlyThrLeuIleAsnGluThrValPheGluPheAspTrpLysSerTyrIleGlnAspSerArgTyrHisTyrPheLeuGluGlyPheLeuAspAlaLeuLeuCysGlyAsnSerSerAspAlaGlyGlnCysProGluGlyTyrMetCysValLysAlaGlyArgAsnProAsnTyrGlyTyrThrSerPheAspThrPheSerTrpAlaPheLeuSerLeuPheArgLeuMetThrGlnAspPheTrpGluAsnLeuTyrGlnLeuThrLeuArgAlaAlaGlyLysThrTyrMetIlePhePheValLeuValIlePheLeuGlySerPheTyrLeuIleAsnLeuIleLeuAlaValValAlaMetAlaTyrGluGluGlnAsnGlnAlaThrLeuGluGluAlaGluGlnLysGluAlaGluPheGlnGlnMetIleGluGlnLeuLysLysGlnGlnGluAlaAlaGlnGlnAlaAlaThrAlaThrAlaSerGluHisSerArgGluProSerAlaAlaGlyArgLeuSerAspSerSerSerGluAlaSerLysLeuSerSerLysSerAlaLysGluArgArgAsnArgArgLysLysArgLysGlnLysGluGlnSerGlyGlyGluGluLysAspGluAspGluPheGlnLysSerGluSerGluAspSerIleArgArgLysGlyPheArgPheSerIleGluGlyAsnArgLeuThrTyrGluLysArgTyrSerSerProHisGlnSerLeuLeuSerIleArgGlySerLeuPheSerProArgArgAsnSerArgThrSerLeuPheSerPheArgGlyArgAlaLysAspValGlySerGluAsnAspPheAlaAspAspGluHisSerThrPheGluAspAsnGluSerArgArgAspSerLeuPheValProArgArgHisGlyGluArgArgAsnSerAsnLeuSerGlnThrArgAsnAsnHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773217"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3079,
          "referenceAllele": "C",
          "start": 3078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000673490.1:n.3079C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773702"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1084,
          "referenceAllele": "C",
          "start": 1083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000674923.1:c.606C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501589.1:p.Tyr202Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774809",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674923.1:c.606C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001165963.4:c.606C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501589.1:p.Tyr202Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001159435.1:p.Tyr202Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1024,
          "referenceAllele": "C",
          "start": 1023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000303395.8:c.606C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303540.4:p.Tyr202Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255312"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 624,
          "referenceAllele": "C",
          "start": 623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000375405.7:c.606C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364554.3:p.Tyr202Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270694"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 606,
          "referenceAllele": "C",
          "start": 605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000409050.1:c.606C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386312.1:p.Tyr202Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281214"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 682,
          "referenceAllele": "C",
          "start": 681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000423058.6:c.606C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407030.2:p.Tyr202Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287573"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 624,
          "referenceAllele": "C",
          "start": 623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.1:c.606C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Tyr202Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014743"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 624,
          "referenceAllele": "C",
          "start": 623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165964.1:c.606C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159436.1:p.Tyr202Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014744"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 833,
          "referenceAllele": "C",
          "start": 832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001202435.1:c.606C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189364.1:p.Tyr202Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017403"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 624,
          "referenceAllele": "C",
          "start": 623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.4:c.606C>A",
        "LRG_8t1:c.606C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_008851.3:p.Tyr202Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031895"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 790,
          "referenceAllele": "C",
          "start": 789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511598.1:c.606C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509900.1:p.Tyr202Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078859"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1005,
          "referenceAllele": "C",
          "start": 1004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511599.1:c.606C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509901.1:p.Tyr202Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078860"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 881,
          "referenceAllele": "C",
          "start": 880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511600.1:c.606C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509902.1:p.Tyr202Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078861"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1000,
          "referenceAllele": "C",
          "start": 999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511601.1:c.606C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509903.1:p.Tyr202Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078862"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 913,
          "referenceAllele": "C",
          "start": 912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511602.1:c.606C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509904.1:p.Tyr202Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078863"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 790,
          "referenceAllele": "C",
          "start": 789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511603.1:c.606C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509905.1:p.Tyr202Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078864"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 790,
          "referenceAllele": "C",
          "start": 789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511604.1:c.606C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509906.1:p.Tyr202Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078865"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 790,
          "referenceAllele": "C",
          "start": 789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511605.1:c.606C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509907.1:p.Tyr202Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078866"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 790,
          "referenceAllele": "C",
          "start": 789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511606.1:c.606C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509908.1:p.Tyr202Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078867"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 790,
          "referenceAllele": "C",
          "start": 789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511607.1:c.606C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509909.1:p.Tyr202Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078868"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 790,
          "referenceAllele": "C",
          "start": 789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XR_922981.1:n.790C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS120043"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1103,
          "referenceAllele": "C",
          "start": 1102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.2:c.606C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Tyr202Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511667"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1016,
          "referenceAllele": "C",
          "start": 1015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165964.2:c.606C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159436.1:p.Tyr202Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511668"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 917,
          "referenceAllele": "C",
          "start": 916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001202435.2:c.606C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189364.1:p.Tyr202Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511850"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 924,
          "referenceAllele": "C",
          "start": 923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353948.1:c.606C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340877.1:p.Tyr202Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522051"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 825,
          "referenceAllele": "C",
          "start": 824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353949.1:c.606C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340878.1:p.Tyr202Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522052"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 917,
          "referenceAllele": "C",
          "start": 916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353950.1:c.606C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340879.1:p.Tyr202Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522053"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 924,
          "referenceAllele": "C",
          "start": 923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353951.1:c.606C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340880.1:p.Tyr202Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522054"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1016,
          "referenceAllele": "C",
          "start": 1015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353952.1:c.606C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340881.1:p.Tyr202Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522055"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1016,
          "referenceAllele": "C",
          "start": 1015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353954.1:c.606C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340883.1:p.Tyr202Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522056"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 924,
          "referenceAllele": "C",
          "start": 923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353955.1:c.606C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340884.1:p.Tyr202Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522057"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 924,
          "referenceAllele": "C",
          "start": 923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353957.1:c.606C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340886.1:p.Tyr202Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522058"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 917,
          "referenceAllele": "C",
          "start": 916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353958.1:c.606C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340887.1:p.Tyr202Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522059"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1016,
          "referenceAllele": "C",
          "start": 1015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353960.1:c.606C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340889.1:p.Tyr202Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522060"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1016,
          "referenceAllele": "C",
          "start": 1015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353961.1:c.-1820C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340890.1:n.-1820C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522061"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1103,
          "referenceAllele": "C",
          "start": 1102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.5:c.606C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_008851.3:p.Tyr202Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525436"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1011,
          "referenceAllele": "C",
          "start": 1010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NR_148667.1:n.1011C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531272"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 992,
          "referenceAllele": "C",
          "start": 991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XR_001738883.1:n.992C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589320"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 997,
          "referenceAllele": "C",
          "start": 996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XR_001738884.1:n.997C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589321"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1084,
          "referenceAllele": "C",
          "start": 1083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.3:c.606C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Tyr202Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678433"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 997,
          "referenceAllele": "C",
          "start": 996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165964.3:c.606C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159436.1:p.Tyr202Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678434"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 862,
          "referenceAllele": "C",
          "start": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001202435.3:c.606C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189364.1:p.Tyr202Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679700"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 905,
          "referenceAllele": "C",
          "start": 904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353948.2:c.606C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340877.1:p.Tyr202Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689996"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 770,
          "referenceAllele": "C",
          "start": 769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353949.2:c.606C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340878.1:p.Tyr202Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689997"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 862,
          "referenceAllele": "C",
          "start": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353950.2:c.606C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340879.1:p.Tyr202Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689998"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 905,
          "referenceAllele": "C",
          "start": 904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353951.2:c.606C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340880.1:p.Tyr202Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689999"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 997,
          "referenceAllele": "C",
          "start": 996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353952.2:c.606C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340881.1:p.Tyr202Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690000"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 997,
          "referenceAllele": "C",
          "start": 996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353954.2:c.606C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340883.1:p.Tyr202Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 905,
          "referenceAllele": "C",
          "start": 904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353955.2:c.606C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340884.1:p.Tyr202Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 905,
          "referenceAllele": "C",
          "start": 904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353957.2:c.606C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340886.1:p.Tyr202Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 862,
          "referenceAllele": "C",
          "start": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353958.2:c.606C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340887.1:p.Tyr202Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 997,
          "referenceAllele": "C",
          "start": 996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353960.2:c.606C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340889.1:p.Tyr202Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 997,
          "referenceAllele": "C",
          "start": 996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353961.2:c.-1820C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340890.1:n.-1820C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690006"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1084,
          "referenceAllele": "C",
          "start": 1083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.6:c.606C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_008851.3:p.Tyr202Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696855"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 992,
          "referenceAllele": "C",
          "start": 991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NR_148667.2:n.992C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704821"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1084,
          "referenceAllele": "C",
          "start": 1083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.4:c.606C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Tyr202Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713154",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674923.1:c.606C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001165963.4:c.606C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501589.1:p.Tyr202Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001159435.1:p.Tyr202Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}