{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA315486",
  "communityStandardTitle": [
    "NM_172107.4(KCNQ2):c.1741C>T (p.Arg581Ter)"
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=34620[alleleid]",
        "alleleId": 34620,
        "preferredName": "NM_172107.4(KCNQ2):c.1741C>T (p.Arg581Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/21768",
        "RCV": [
          "RCV000187920",
          "RCV000636351",
          "RCV000678061",
          "RCV003335050",
          "RCV004554609"
        ],
        "variationId": 21768
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.62044825G>A?assembly=hg19",
        "id": "chr20:g.62044825G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.63413472G>A?assembly=hg38",
        "id": "chr20:g.63413472G>A"
      }
    ],
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/118192236",
        "rs": 118192236
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        "@id": "http://gnomad.broadinstitute.org/variant/20-63413472-G-A?dataset=gnomad_r3",
        "id": "20-63413472-G-A",
        "variant": "20:63413472 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-63413472-G-A?dataset=gnomad_r4",
        "id": "20-63413472-G-A",
        "variant": "20:63413472 G / A"
      }
    ]
  },
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    {
      "chromosome": "20",
      "coordinates": [
        {
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          "end": 63413472,
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        }
      ],
      "hgvs": [
        "NC_000020.11:g.63413472G>A",
        "CM000682.2:g.63413472G>A"
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
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          "end": 62044825,
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          "start": 62044824
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        "NC_000020.10:g.62044825G>A",
        "CM000682.1:g.62044825G>A"
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
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          "end": 61515269,
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      "referenceGenome": "NCBI36",
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    },
    {
      "coordinates": [
        {
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    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS616122"
    }
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    {
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        {
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        "ENST00000706989.1:c.1687C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS913294"
    },
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS749156",
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        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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            "hgvs": "ENST00000359125.7:c.1741C>T"
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          "RefSeq": {
            "hgvs": "NM_172107.4:c.1741C>T"
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        }
      }
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      "coordinates": [
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          "start": 1539
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        "hgvsWellDefined": "ENSP00000490734.1:p.Arg380_Lys671delinsIleLysSerLeuGlnSerArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763682"
    },
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS261982"
    },
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          "start": 1308
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        "hgvsWellDefined": "ENSP00000349789.3:p.Arg437_Lys728delinsIleLysSerLeuGlnSerArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264035"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "start": 1867
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        "hgvsWellDefined": "ENSP00000352035.2:p.Arg581_Lys872delinsIleLysSerLeuGlnSerArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264683"
    },
    {
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        {
          "allele": "T",
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      "hgvs": [
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        "hgvsWellDefined": "ENSP00000353668.3:p.Arg553_Lys844delinsIleLysSerLeuGlnSerArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265147"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1792,
          "referenceAllele": "C",
          "start": 1791
        }
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267945"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "C",
          "start": 1712
        }
      ],
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        "hgvsWellDefined": "ENSP00000486040.1:p.Arg541_His754delinsIleLysSerLeuGlnSerArgIleAspMetIleValGlyProProProProSerThrProArgHisLysLysTyrProThrLysGlyProThrAlaProProArgGluSerProGlnTyrSerProArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuGlyArgAlaProGluThrArgAlaGlyGlnGluGlySerHisGlyGlyValSerHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406588"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "start": 1900
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      ],
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000486706.1:p.Arg563_Lys854delinsIleLysSerLeuGlnSerArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406799"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1749,
          "referenceAllele": "C",
          "start": 1748
        }
      ],
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "ENSP00000487142.1:p.Arg553Ter",
        "hgvsWellDefined": "ENSP00000487142.1:p.Arg553_His730delinsIleLysSerLeuGlnSerArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuGlyArgAlaProGluThrArgAlaGlyGlnGluGlySerHisGlyGlyValSerHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407190"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 349,
          "referenceAllele": "C",
          "start": 348
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      "geneSymbol": "KCNQ2",
      "hgvs": [
        "ENST00000629318.1:c.349C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000487384.1:p.Arg117Ter",
        "hgvsWellDefined": "ENSP00000487384.1:p.Arg117_Phe179delinsIleLysSerLeuGlnSerArgGlnGluProArgLeuProValGlnGlnGlyThrArgThrGlyTrpAlaSerGlyThrLysProThrValAlaHisGlyGlySerAlaGlyGlyValTrpAlaGlyProProProHisProArgArgProLeuSerAlaSerValValSerSerGlnSerLeuPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407203"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1749,
          "referenceAllele": "C",
          "start": 1748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
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      "proteinEffect": {
        "hgvs": "ENSP00000486194.1:p.Arg553Ter",
        "hgvsWellDefined": "ENSP00000486194.1:p.Arg553_Ser645delinsIleLysSerLeuGlnSerArgAspGlyLeuGlnArgHisAlaGlnGlyArgArgGlyLeuThrGluGlySerArgThrGluAlaProArgAlaGlyGlyProAlaGlyArgHisProSerAlaArgAspProHisGlyProArgValProAlaMetProAlaProHisAlaIleAlaValCysHisProLeuAlaValThrValAlaAlaAlaSerProPheAlaProLeuProLeuAlaValCysThrPheValHisAlaProLysAsnIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407259"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829531480",
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        {
          "allele": "T",
          "end": 1834,
          "referenceAllele": "C",
          "start": 1833
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        "hgvsWellDefined": "NP_004509.2:p.Arg553_Lys844delinsIleLysSerLeuGlnSerArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029676"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830345120",
      "coordinates": [
        {
          "allele": "T",
          "end": 1864,
          "referenceAllele": "C",
          "start": 1863
        }
      ],
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_742104.1:p.Arg563_Lys854delinsIleLysSerLeuGlnSerArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042648"
    },
    {
      "@id": "http://reg.genome.network/allele/PA315488",
      "coordinates": [
        {
          "allele": "T",
          "end": 1918,
          "referenceAllele": "C",
          "start": 1917
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      ],
      "gene": "http://reg.genome.network/gene/GN006296",
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      "proteinEffect": {
        "hgvs": "NP_742105.1:p.Arg581Ter",
        "hgvsWellDefined": "NP_742105.1:p.Arg581_Lys872delinsIleLysSerLeuGlnSerArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042649"
    },
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      "@id": "http://reg.genome.network/allele/PA2830347172",
      "coordinates": [
        {
          "allele": "T",
          "end": 1825,
          "referenceAllele": "C",
          "start": 1824
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      ],
      "gene": "http://reg.genome.network/gene/GN006296",
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        "NM_172108.3:c.1648C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_742106.1:p.Arg550Ter",
        "hgvsWellDefined": "NP_742106.1:p.Arg550_Lys841delinsIleLysSerLeuGlnSerArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042650"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1867,
          "referenceAllele": "C",
          "start": 1866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
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      "proteinEffect": {
        "hgvs": "XP_006723850.1:p.Arg581Ter",
        "hgvsWellDefined": "XP_006723850.1:p.Arg581_Lys886delinsIleLysSerLeuGlnSerArgGlnGluProArgLeuProValGlnGlnGlyThrArgThrGlyValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075200"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1867,
          "referenceAllele": "C",
          "start": 1866
        }
      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095878"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1864,
          "referenceAllele": "C",
          "start": 1863
        }
      ],
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095879"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1837,
          "referenceAllele": "C",
          "start": 1836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
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      "hgvs": [
        "XM_011528809.1:c.1711C>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011527111.1:p.Arg571_Lys898delinsIleLysSerLeuGlnSerArgIleAspMetIleValGlyProProProProSerThrProArgHisLysLysTyrProThrLysGlyProThrAlaProProArgGluSerProGlnTyrSerProArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095880"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1813,
          "referenceAllele": "C",
          "start": 1812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011527112.1:p.Arg563_Lys890delinsIleLysSerLeuGlnSerArgIleAspMetIleValGlyProProProProSerThrProArgHisLysLysTyrProThrLysGlyProThrAlaProProArgGluSerProGlnTyrSerProArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095881"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1783,
          "referenceAllele": "C",
          "start": 1782
        }
      ],
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095882"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1864,
          "referenceAllele": "C",
          "start": 1863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "XP_011527114.1:p.Arg580Ter",
        "hgvsWellDefined": "XP_011527114.1:p.Arg580_Lys871delinsIleLysSerLeuGlnSerArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095883"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1741,
          "referenceAllele": "C",
          "start": 1740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
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      "geneSymbol": "KCNQ2",
      "hgvs": [
        "XM_011528813.1:c.1615C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527115.1:p.Arg539Ter",
        "hgvsWellDefined": "XP_011527115.1:p.Arg539_Lys866delinsIleLysSerLeuGlnSerArgIleAspMetIleValGlyProProProProSerThrProArgHisLysLysTyrProThrLysGlyProThrAlaProProArgGluSerProGlnTyrSerProArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095884"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1795,
          "referenceAllele": "C",
          "start": 1794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "XM_011528814.1:c.1222C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527116.1:p.Arg408Ter",
        "hgvsWellDefined": "XP_011527116.1:p.Arg408_Lys735delinsIleLysSerLeuGlnSerArgIleAspMetIleValGlyProProProProSerThrProArgHisLysLysTyrProThrLysGlyProThrAlaProProArgGluSerProGlnTyrSerProArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095885"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1867,
          "referenceAllele": "C",
          "start": 1866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "XM_011528815.1:c.1741C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527117.1:p.Arg581Ter",
        "hgvsWellDefined": "XP_011527117.1:p.Arg581_Ala682delinsIleLysSerLeuGlnSerArgIleAspMetIleValGlyProProProProSerThrProArgHisLysLysTyrProThrLysGlyProThrAlaProProArgGluSerProGlnTyrSerProArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnGluProProGlnArgThrLeuValLeuGlyProAlaSerGluSerArgAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095886"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829531480",
      "coordinates": [
        {
          "allele": "T",
          "end": 1871,
          "referenceAllele": "C",
          "start": 1870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "NM_004518.5:c.1657C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004509.2:p.Arg553Ter",
        "hgvsWellDefined": "NP_004509.2:p.Arg553_Lys844delinsIleLysSerLeuGlnSerArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525221"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830345120",
      "coordinates": [
        {
          "allele": "T",
          "end": 1901,
          "referenceAllele": "C",
          "start": 1900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "NM_172106.2:c.1687C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_742104.1:p.Arg563Ter",
        "hgvsWellDefined": "NP_742104.1:p.Arg563_Lys854delinsIleLysSerLeuGlnSerArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526727"
    },
    {
      "@id": "http://reg.genome.network/allele/PA315488",
      "coordinates": [
        {
          "allele": "T",
          "end": 1955,
          "referenceAllele": "C",
          "start": 1954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "NM_172107.3:c.1741C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_742105.1:p.Arg581Ter",
        "hgvsWellDefined": "NP_742105.1:p.Arg581_Lys872delinsIleLysSerLeuGlnSerArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526728"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830347172",
      "coordinates": [
        {
          "allele": "T",
          "end": 1862,
          "referenceAllele": "C",
          "start": 1861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "NM_172108.4:c.1648C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_742106.1:p.Arg550Ter",
        "hgvsWellDefined": "NP_742106.1:p.Arg550_Lys841delinsIleLysSerLeuGlnSerArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526729"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1845,
          "referenceAllele": "C",
          "start": 1844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "XM_011528810.2:c.1687C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527112.1:p.Arg563Ter",
        "hgvsWellDefined": "XP_011527112.1:p.Arg563_Lys890delinsIleLysSerLeuGlnSerArgIleAspMetIleValGlyProProProProSerThrProArgHisLysLysTyrProThrLysGlyProThrAlaProProArgGluSerProGlnTyrSerProArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549262"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1815,
          "referenceAllele": "C",
          "start": 1814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "XM_011528811.2:c.1657C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527113.1:p.Arg553Ter",
        "hgvsWellDefined": "XP_011527113.1:p.Arg553_Lys880delinsIleLysSerLeuGlnSerArgIleAspMetIleValGlyProProProProSerThrProArgHisLysLysTyrProThrLysGlyProThrAlaProProArgGluSerProGlnTyrSerProArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549263"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1842,
          "referenceAllele": "C",
          "start": 1841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "XM_017027841.2:c.1684C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883330.1:p.Arg562Ter",
        "hgvsWellDefined": "XP_016883330.1:p.Arg562_Lys889delinsIleLysSerLeuGlnSerArgIleAspMetIleValGlyProProProProSerThrProArgHisLysLysTyrProThrLysGlyProThrAlaProProArgGluSerProGlnTyrSerProArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577727"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1845,
          "referenceAllele": "C",
          "start": 1844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "XM_017027842.2:c.1687C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883331.1:p.Arg563Ter",
        "hgvsWellDefined": "XP_016883331.1:p.Arg563_Lys868delinsIleLysSerLeuGlnSerArgGlnGluProArgLeuProValGlnGlnGlyThrArgThrGlyValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577728"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1706,
          "referenceAllele": "C",
          "start": 1705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "XM_017027843.1:c.1618C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883332.1:p.Arg540Ter",
        "hgvsWellDefined": "XP_016883332.1:p.Arg540_Lys867delinsIleLysSerLeuGlnSerArgIleAspMetIleValGlyProProProProSerThrProArgHisLysLysTyrProThrLysGlyProThrAlaProProArgGluSerProGlnTyrSerProArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577729"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1842,
          "referenceAllele": "C",
          "start": 1841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "XM_017027844.2:c.1684C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883333.1:p.Arg562Ter",
        "hgvsWellDefined": "XP_016883333.1:p.Arg562_Lys853delinsIleLysSerLeuGlnSerArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577730"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1253,
          "referenceAllele": "C",
          "start": 1252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "XM_017027845.1:c.649C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883334.1:p.Arg217Ter",
        "hgvsWellDefined": "XP_016883334.1:p.Arg217_Lys544delinsIleLysSerLeuGlnSerArgIleAspMetIleValGlyProProProProSerThrProArgHisLysLysTyrProThrLysGlyProThrAlaProProArgGluSerProGlnTyrSerProArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577731"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829531480",
      "coordinates": [
        {
          "allele": "T",
          "end": 1849,
          "referenceAllele": "C",
          "start": 1848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "NM_004518.6:c.1657C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004509.2:p.Arg553Ter",
        "hgvsWellDefined": "NP_004509.2:p.Arg553_Lys844delinsIleLysSerLeuGlnSerArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696171"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830345120",
      "coordinates": [
        {
          "allele": "T",
          "end": 1879,
          "referenceAllele": "C",
          "start": 1878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "NM_172106.3:c.1687C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_742104.1:p.Arg563Ter",
        "hgvsWellDefined": "NP_742104.1:p.Arg563_Lys854delinsIleLysSerLeuGlnSerArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700477"
    },
    {
      "@id": "http://reg.genome.network/allele/PA315488",
      "coordinates": [
        {
          "allele": "T",
          "end": 1933,
          "referenceAllele": "C",
          "start": 1932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "NM_172107.4:c.1741C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_742105.1:p.Arg581Ter",
        "hgvsWellDefined": "NP_742105.1:p.Arg581_Lys872delinsIleLysSerLeuGlnSerArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700478",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000359125.7:c.1741C>T"
          },
          "RefSeq": {
            "hgvs": "NM_172107.4:c.1741C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000352035.2:p.Arg581Ter"
          },
          "RefSeq": {
            "hgvs": "NP_742105.1:p.Arg581Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830347172",
      "coordinates": [
        {
          "allele": "T",
          "end": 1840,
          "referenceAllele": "C",
          "start": 1839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "NM_172108.5:c.1648C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_742106.1:p.Arg550Ter",
        "hgvsWellDefined": "NP_742106.1:p.Arg550_Lys841delinsIleLysSerLeuGlnSerArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700479"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1879,
          "referenceAllele": "C",
          "start": 1878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "NM_001382235.1:c.1687C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369164.1:p.Arg563Ter",
        "hgvsWellDefined": "NP_001369164.1:p.Arg563_Lys890delinsIleLysSerLeuGlnSerArgIleAspMetIleValGlyProProProProSerThrProArgHisLysLysTyrProThrLysGlyProThrAlaProProArgGluSerProGlnTyrSerProArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722196"
    }
  ],
  "type": "nucleotide"
}