{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA379807364",
  "communityStandardTitle": [
    "NM_001112741.2(KCNC1):c.1015C>T (p.Arg339Ter)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=838166[alleleid]",
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        "preferredName": "NM_001112741.2(KCNC1):c.1015C>T (p.Arg339Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/856458",
        "RCV": [
          "RCV001061926",
          "RCV003311936"
        ],
        "variationId": 856458
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    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.17793656C>T?assembly=hg19",
        "id": "chr11:g.17793656C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.17772109C>T?assembly=hg38",
        "id": "chr11:g.17772109C>T"
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    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1849236683",
        "rs": 1849236683
      }
    ]
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      "chromosome": "11",
      "coordinates": [
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
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    },
    {
      "chromosome": "11",
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        {
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      "referenceGenome": "NCBI36",
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      "referenceSequence": "http://reg.genome.network/refseq/RS005890"
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        "maneStatus": "MANE Select",
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    },
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764974"
    },
    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS765361"
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      "referenceSequence": "http://reg.genome.network/refseq/RS765440"
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      "referenceSequence": "http://reg.genome.network/refseq/RS765728"
    },
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000502716.1:p.Arg339_Met566delinsAlaSerThrAsnGluPheLeuLeuLeuIleIlePheLeuAlaLeuGlyValLeuIlePheAlaThrMetIleTyrTyrAlaGluArgIleGlyAlaGlnProAsnAspProSerAlaSerGluHisThrHisPheLysAsnIleProIleGlyPheTrpTrpAlaValValThrMetThrThrLeuGlyTyrGlyAspMetTyrProGlnThrTrpSerGlyMetLeuValGlyAlaLeuCysAlaLeuAlaGlyValLeuThrIleAlaMetProValProValIleValAsnAsnPheGlyMetTyrTyrSerLeuAlaMetAlaLysGlnLysLeuProLysLysLysLysLysHisIleProArgProProGlnLeuGlySerProAsnTyrCysLysSerValValAsnSerProHisHisSerThrGlnSerAspThrCysProLeuAlaGlnGluGluIleLeuGluIleAsnArgAlaAspSerLysLeuAsnGlyGluValAlaLysAlaAlaLeuAlaAsnGluAspCysProHisIleAspGlnAlaLeuThrProAspGluGlyLeuProPheThrArgSerGlyThrArgGluArgTyrGlyProCysPheLeuLeuSerThrGlyGluTyrAlaCysProProGlyGlyGlyMetArgLysGlyMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775547"
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      "referenceSequence": "http://reg.genome.network/refseq/RS251853"
    },
    {
      "coordinates": [
        {
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          "start": 1044
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      "referenceSequence": "http://reg.genome.network/refseq/RS272513"
    },
    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS011219"
    },
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030107"
    },
    {
      "coordinates": [
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      ],
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011518380.1:p.Arg339_Arg562delinsAlaSerThrAsnGluPheLeuLeuLeuIleIlePheLeuAlaLeuGlyValLeuIlePheAlaThrMetIleTyrTyrAlaGluArgIleGlyAlaGlnProAsnAspProSerAlaSerGluHisThrHisPheLysAsnIleProIleGlyPheTrpTrpAlaValValThrMetThrThrLeuGlyTyrGlyAspMetTyrProGlnThrTrpSerGlyMetLeuValGlyAlaLeuCysAlaLeuAlaGlyValLeuThrIleAlaMetProValProValIleValAsnAsnPheGlyMetTyrTyrSerLeuAlaMetAlaLysGlnLysLeuProLysLysLysLysLysHisIleProArgProProGlnLeuGlySerProAsnTyrCysLysSerValValAsnSerProHisHisSerThrGlnSerAspThrCysProLeuAlaGlnGluGluIleLeuGluIleAsnArgAlaGlyHisSerAlaGluMetAspAsnSerIleTrpPhePheLeuArgGluThrGluProSerHisValSerThrTyrGlyValProIleGluAspSerThrPheAlaIleAlaSerTrpAsnLeuGluSerLeuLeuSerAsnArgArgIleValTyrThrSerTrpThrHisTrpThrLysArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087247"
    },
    {
      "coordinates": [
        {
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      "proteinEffect": {
        "hgvs": "XP_011518381.1:p.Arg339Ter",
        "hgvsWellDefined": "XP_011518381.1:p.Arg339_Arg547delinsAlaSerThrAsnGluPheLeuLeuLeuIleIlePheLeuAlaLeuGlyValLeuIlePheAlaThrMetIleTyrTyrAlaGluArgIleGlyAlaGlnProAsnAspProSerAlaSerGluHisThrHisPheLysAsnIleProIleGlyPheTrpTrpAlaValValThrMetThrThrLeuGlyTyrGlyAspMetTyrProGlnThrTrpSerGlyMetLeuValGlyAlaLeuCysAlaLeuAlaGlyValLeuThrIleAlaMetProValProValIleValAsnAsnPheGlyMetTyrTyrSerLeuAlaMetAlaLysGlnLysLeuProLysLysLysLysLysHisIleProArgProProGlnLeuGlySerProAsnTyrCysLysSerValValAsnSerProHisHisSerThrGlnSerAspThrCysProLeuAlaGlnGluGluIleLeuGluIleAsnArgAlaGlyHisSerAlaGluMetAspAsnSerIleTrpPhePheLeuArgGluThrGluProSerHisValSerThrTyrGlyValProIleGluAspSerThrPheAlaIleAlaSerTrpAsnLeuGluSerLeuLeuArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087248"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1108,
          "referenceAllele": "C",
          "start": 1107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006233",
      "geneNCBI_id": 3746,
      "geneSymbol": "KCNC1",
      "hgvs": [
        "XM_011520080.1:c.1015C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518382.1:p.Arg339Ter",
        "hgvsWellDefined": "XP_011518382.1:p.Arg339_Leu535delinsAlaSerThrAsnGluPheLeuLeuLeuIleIlePheLeuAlaLeuGlyValLeuIlePheAlaThrMetIleTyrTyrAlaGluArgIleGlyAlaGlnProAsnAspProSerAlaSerGluHisThrHisPheLysAsnIleProIleGlyPheTrpTrpAlaValValThrMetThrThrLeuGlyTyrGlyAspMetTyrProGlnThrTrpSerGlyMetLeuValGlyAlaLeuCysAlaLeuAlaGlyValLeuThrIleAlaMetProValProValIleValAsnAsnPheGlyMetTyrTyrSerLeuAlaMetAlaLysGlnLysLeuProLysLysLysLysLysHisIleProArgProProGlnLeuGlySerProAsnTyrCysLysSerValValAsnSerProHisHisSerThrGlnSerAspThrCysProLeuAlaGlnGluGluIleLeuGluIleAsnArgAlaGlyIleSerLysGluGlnMetThrGlnArgArgMetThrAlaLeuSerLysLysGluCysGlnMetLeuIleSerAlaHisPheLysProGlyAsnHisLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087249"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1108,
          "referenceAllele": "C",
          "start": 1107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006233",
      "geneNCBI_id": 3746,
      "geneSymbol": "KCNC1",
      "hgvs": [
        "XM_011520081.1:c.1015C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518383.1:p.Arg339Ter",
        "hgvsWellDefined": "XP_011518383.1:p.Arg339_Val530delinsAlaSerThrAsnGluPheLeuLeuLeuIleIlePheLeuAlaLeuGlyValLeuIlePheAlaThrMetIleTyrTyrAlaGluArgIleGlyAlaGlnProAsnAspProSerAlaSerGluHisThrHisPheLysAsnIleProIleGlyPheTrpTrpAlaValValThrMetThrThrLeuGlyTyrGlyAspMetTyrProGlnThrTrpSerGlyMetLeuValGlyAlaLeuCysAlaLeuAlaGlyValLeuThrIleAlaMetProValProValIleValAsnAsnPheGlyMetTyrTyrSerLeuAlaMetAlaLysGlnLysLeuProLysLysLysLysLysHisIleProArgProProGlnLeuGlySerProAsnTyrCysLysSerValValAsnSerProHisHisSerThrGlnSerAspThrCysProLeuAlaGlnGluGluIleLeuGluIleAsnArgAlaAspAlaHisLeuSerProPheGlnAlaTrpLysProSerLeuArgArgCysProCysCysHisPheIleThrAlaGlyLeuTrpValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087250"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1108,
          "referenceAllele": "C",
          "start": 1107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006233",
      "geneNCBI_id": 3746,
      "geneSymbol": "KCNC1",
      "hgvs": [
        "XR_930866.1:n.1108C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS126993"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2208,
          "referenceAllele": "C",
          "start": 2207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006233",
      "geneNCBI_id": 3746,
      "geneSymbol": "KCNC1",
      "hgvs": [
        "XR_930866.2:n.2208C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS609699"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825562865",
      "coordinates": [
        {
          "allele": "T",
          "end": 2237,
          "referenceAllele": "C",
          "start": 2236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006233",
      "geneNCBI_id": 3746,
      "geneSymbol": "KCNC1",
      "hgvs": [
        "NM_001112741.2:c.1015C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001106212.1:p.Arg339Ter",
        "hgvsWellDefined": "NP_001106212.1:p.Arg339_Thr585delinsAlaSerThrAsnGluPheLeuLeuLeuIleIlePheLeuAlaLeuGlyValLeuIlePheAlaThrMetIleTyrTyrAlaGluArgIleGlyAlaGlnProAsnAspProSerAlaSerGluHisThrHisPheLysAsnIleProIleGlyPheTrpTrpAlaValValThrMetThrThrLeuGlyTyrGlyAspMetTyrProGlnThrTrpSerGlyMetLeuValGlyAlaLeuCysAlaLeuAlaGlyValLeuThrIleAlaMetProValProValIleValAsnAsnPheGlyMetTyrTyrSerLeuAlaMetAlaLysGlnLysLeuProLysLysLysLysLysHisIleProArgProProGlnLeuGlySerProAsnTyrCysLysSerValValAsnSerProHisHisSerThrGlnSerAspThrCysProLeuAlaGlnGluGluIleLeuGluIleAsnArgAlaAspSerLysLeuAsnGlyGluValAlaLysAlaAlaLeuAlaAsnGluAspCysProHisIleAspGlnAlaLeuThrProAspGluGlyLeuProPheThrArgSerGlyThrArgGluArgTyrGlyProCysPheLeuLeuSerThrGlyGluTyrAlaCysProProGlyGlyGlyMetArgLysAspLeuCysLysGluSerProValIleAlaLysTyrMetProThrGluAlaValArgValThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676689",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265969.8:c.1015C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001112741.2:c.1015C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265969.7:p.Arg339Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001106212.1:p.Arg339Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}