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          "referenceAllele": "G",
          "start": 2866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027337",
      "geneNCBI_id": 203859,
      "geneSymbol": "ANO5",
      "hgvs": [
        "XM_005252820.3:c.2404G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252877.2:p.Glu802Ter",
        "hgvsWellDefined": "XP_005252877.2:p.Glu802_Leu899delinsAsnLysTyrPheHisAsnMetGlnPheTrpHisValLeuAlaAlaLysMetThrPheIleIleValMetGluHisValValPheLeuValLysPheLeuLeuAlaTrpMetIleProAspValProLysAspValValGluArgIleLysArgGluLysLeuMetThrIleLysIleLeuHisAspPheGluLeuAsnLysLeuLysGluAsnLeuGlyIleAsnSerAsnGluPheAlaLysHisValMetIleGluGluAsnLysAlaGlnLeuAlaLysSerThrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533860"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2864,
          "referenceAllele": "G",
          "start": 2863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027337",
      "geneNCBI_id": 203859,
      "geneSymbol": "ANO5",
      "hgvs": [
        "XM_005252821.3:c.2401G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252878.2:p.Glu801Ter",
        "hgvsWellDefined": "XP_005252878.2:p.Glu801_Leu898delinsAsnLysTyrPheHisAsnMetGlnPheTrpHisValLeuAlaAlaLysMetThrPheIleIleValMetGluHisValValPheLeuValLysPheLeuLeuAlaTrpMetIleProAspValProLysAspValValGluArgIleLysArgGluLysLeuMetThrIleLysIleLeuHisAspPheGluLeuAsnLysLeuLysGluAsnLeuGlyIleAsnSerAsnGluPheAlaLysHisValMetIleGluGluAsnLysAlaGlnLeuAlaLysSerThrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533861"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2648,
          "referenceAllele": "G",
          "start": 2647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027337",
      "geneNCBI_id": 203859,
      "geneSymbol": "ANO5",
      "hgvs": [
        "XM_005252822.4:c.2368G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252879.1:p.Glu790Ter",
        "hgvsWellDefined": "XP_005252879.1:p.Glu790_Leu887delinsAsnLysTyrPheHisAsnMetGlnPheTrpHisValLeuAlaAlaLysMetThrPheIleIleValMetGluHisValValPheLeuValLysPheLeuLeuAlaTrpMetIleProAspValProLysAspValValGluArgIleLysArgGluLysLeuMetThrIleLysIleLeuHisAspPheGluLeuAsnLysLeuLysGluAsnLeuGlyIleAsnSerAsnGluPheAlaLysHisValMetIleGluGluAsnLysAlaGlnLeuAlaLysSerThrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533862"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2816,
          "referenceAllele": "G",
          "start": 2815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027337",
      "geneNCBI_id": 203859,
      "geneSymbol": "ANO5",
      "hgvs": [
        "XM_011519949.2:c.2353G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518251.1:p.Glu785Ter",
        "hgvsWellDefined": "XP_011518251.1:p.Glu785_Leu882delinsAsnLysTyrPheHisAsnMetGlnPheTrpHisValLeuAlaAlaLysMetThrPheIleIleValMetGluHisValValPheLeuValLysPheLeuLeuAlaTrpMetIleProAspValProLysAspValValGluArgIleLysArgGluLysLeuMetThrIleLysIleLeuHisAspPheGluLeuAsnLysLeuLysGluAsnLeuGlyIleAsnSerAsnGluPheAlaLysHisValMetIleGluGluAsnLysAlaGlnLeuAlaLysSerThrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545537"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825809985",
      "coordinates": [
        {
          "allele": "T",
          "end": 2851,
          "referenceAllele": "G",
          "start": 2850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027337",
      "geneNCBI_id": 203859,
      "geneSymbol": "ANO5",
      "hgvs": [
        "NM_001142649.2:c.2443G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136121.1:p.Glu815Ter",
        "hgvsWellDefined": "NP_001136121.1:p.Glu815_Leu912delinsAsnLysTyrPheHisAsnMetGlnPheTrpHisValLeuAlaAlaLysMetThrPheIleIleValMetGluHisValValPheLeuValLysPheLeuLeuAlaTrpMetIleProAspValProLysAspValValGluArgIleLysArgGluLysLeuMetThrIleLysIleLeuHisAspPheGluLeuAsnLysLeuLysGluAsnLeuGlyIleAsnSerAsnGluPheAlaLysHisValMetIleGluGluAsnLysAlaGlnLeuAlaLysSerThrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677601"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645462483",
      "coordinates": [
        {
          "allele": "T",
          "end": 2854,
          "referenceAllele": "G",
          "start": 2853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027337",
      "geneNCBI_id": 203859,
      "geneSymbol": "ANO5",
      "hgvs": [
        "NM_213599.3:c.2446G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_998764.1:p.Glu816Ter",
        "hgvsWellDefined": "NP_998764.1:p.Glu816_Leu913delinsAsnLysTyrPheHisAsnMetGlnPheTrpHisValLeuAlaAlaLysMetThrPheIleIleValMetGluHisValValPheLeuValLysPheLeuLeuAlaTrpMetIleProAspValProLysAspValValGluArgIleLysArgGluLysLeuMetThrIleLysIleLeuHisAspPheGluLeuAsnLysLeuLysGluAsnLeuGlyIleAsnSerAsnGluPheAlaLysHisValMetIleGluGluAsnLysAlaGlnLeuAlaLysSerThrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701806",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000324559.9:c.2446G>T"
          },
          "RefSeq": {
            "hgvs": "NM_213599.3:c.2446G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000315371.9:p.Glu816Ter"
          },
          "RefSeq": {
            "hgvs": "NP_998764.1:p.Glu816Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}