{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA274001",
  "communityStandardTitle": [
    "NM_019098.5(CNGB3):c.391C>T (p.Gln131Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=186770[alleleid]",
        "alleleId": 186770,
        "preferredName": "NM_019098.5(CNGB3):c.391C>T (p.Gln131Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/188822",
        "RCV": [
          "RCV000169161",
          "RCV001204119",
          "RCV001826865"
        ],
        "variationId": 188822
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.87683274G>A?assembly=hg19",
        "id": "chr8:g.87683274G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.86671046G>A?assembly=hg38",
        "id": "chr8:g.86671046G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/786204492",
        "rs": 786204492
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-87683274-G-A?dataset=gnomad_r2_1",
        "id": "8-87683274-G-A",
        "variant": "8:87683274 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-86671046-G-A?dataset=gnomad_r4",
        "id": "8-86671046-G-A",
        "variant": "8:86671046 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 86671046,
          "referenceAllele": "G",
          "start": 86671045
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      ],
      "hgvs": [
        "NC_000008.11:g.86671046G>A",
        "CM000670.2:g.86671046G>A"
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
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          "start": 87683273
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      ],
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        "CM000670.1:g.87683274G>A"
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      "referenceGenome": "GRCh37",
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    },
    {
      "chromosome": "8",
      "coordinates": [
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 77630,
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      ],
      "hgvs": [
        "NG_016980.1:g.77630C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS003348"
    }
  ],
  "transcriptAlleles": [
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      ],
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      "geneNCBI_id": 54714,
      "geneSymbol": "CNGB3",
      "hgvs": [
        "ENST00000320005.6:c.391C>T"
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS746325",
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        "maneStatus": "MANE Select",
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            "hgvs": "NM_019098.5:c.391C>T"
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        },
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          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 152,
          "referenceAllele": "C",
          "start": 151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002153",
      "geneNCBI_id": 54714,
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      "hgvs": [
        "ENST00000680314.1:n.152C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS779932"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 439,
          "referenceAllele": "C",
          "start": 438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002153",
      "geneNCBI_id": 54714,
      "geneSymbol": "CNGB3",
      "hgvs": [
        "ENST00000681746.1:c.391C>T"
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      "proteinEffect": {
        "hgvs": "ENSP00000505959.1:p.Gln131Ter",
        "hgvsWellDefined": "ENSP00000505959.1:p.Gln131_Leu562delinsLeuHisAsnLeuValLysArgMetArgGlnArgThrAlaLeuTyrLysLysLysLeuValGluGlyAspLeuSerSerProGluAlaSerProGlnThrAlaLysProThrAlaValProProValLysGluSerAspAspLysProThrGluHisTyrTyrArgLeuLeuTrpPheLysValLysLysMetProLeuThrGluTyrLeuLysArgIleLysLeuProAsnSerIleAspSerTyrThrAspArgLeuTyrLeuLeuTrpLeuLeuLeuValThrLeuAlaTyrAsnTrpAsnCysCysPheIleProLeuArgLeuValPheProTyrGlnThrAlaAspAsnIleHisTyrTrpLeuIleAlaAspIleIleCysAspIleIleTyrLeuTyrAspMetLeuPheIleGlnProArgLeuGlnPheValArgGlyGlyAspIleIleValAspSerAsnGluLeuArgLysHisTyrArgThrSerThrLysPheGlnLeuAspValAlaSerIleIleProPheAspIleCysTyrLeuPhePheGlyPheAsnProMetPheArgAlaAsnArgMetLeuLysTyrThrSerPhePheGluPheAsnHisHisLeuGluSerIleMetAspLysAlaTyrIleTyrArgValIleArgThrThrGlyTyrLeuLeuPheIleLeuHisIleAsnAlaCysValTyrTyrTrpAlaSerAsnTyrGluGlyIleGlyThrThrArgTrpValTyrAspGlyGluGlyAsnGluTyrLeuArgCysTyrTyrTrpAlaValArgThrLeuIleThrIleGlyGlyLeuProGluProGlnThrLeuPheGluIleValPheGlnLeuLeuAsnPhePheSerGlyValPheValPheSerSerLeuIleGlyGlnMetArgAspValIleGlyAlaAlaThrAlaAsnGlnAsnTyrPheArgAlaCysMetAspAspThrIleAlaTyrMetAsnAsnTyrSerIleProLysLeuValGlnLysArgValArgThrTrpTyrGluTyrThrTrpAspSerGlnArgMetLeuAspGluSerAspLeuLeuLysThrLeuProThrThrValGlnLeuAlaLeuAlaIleAspValAsnPheSerIleIleSerLysValAspLeuPheLysGlyCysAspThrGlnMetIleTyrAspMetLeuLeuArgLeuLysSerValLeuTyrLeuProGlyAspPheValCysLysLysAlaArgCysSerGlySerArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781349"
    },
    {
      "coordinates": [
        {
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          "end": 439,
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          "start": 438
        }
      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS257744"
    },
    {
      "@id": "http://reg.genome.network/allele/PA274002",
      "coordinates": [
        {
          "allele": "T",
          "end": 439,
          "referenceAllele": "C",
          "start": 438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002153",
      "geneNCBI_id": 54714,
      "geneSymbol": "CNGB3",
      "hgvs": [
        "NM_019098.4:c.391C>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_061971.3:p.Gln131_Gln809delinsLeuHisAsnLeuValLysArgMetArgGlnArgThrAlaLeuTyrLysLysLysLeuValGluGlyAspLeuSerSerProGluAlaSerProGlnThrAlaLysProThrAlaValProProValLysGluSerAspAspLysProThrGluHisTyrTyrArgLeuLeuTrpPheLysValLysLysMetProLeuThrGluTyrLeuLysArgIleLysLeuProAsnSerIleAspSerTyrThrAspArgLeuTyrLeuLeuTrpLeuLeuLeuValThrLeuAlaTyrAsnTrpAsnCysCysPheIleProLeuArgLeuValPheProTyrGlnThrAlaAspAsnIleHisTyrTrpLeuIleAlaAspIleIleCysAspIleIleTyrLeuTyrAspMetLeuPheIleGlnProArgLeuGlnPheValArgGlyGlyAspIleIleValAspSerAsnGluLeuArgLysHisTyrArgThrSerThrLysPheGlnLeuAspValAlaSerIleIleProPheAspIleCysTyrLeuPhePheGlyPheAsnProMetPheArgAlaAsnArgMetLeuLysTyrThrSerPhePheGluPheAsnHisHisLeuGluSerIleMetAspLysAlaTyrIleTyrArgValIleArgThrThrGlyTyrLeuLeuPheIleLeuHisIleAsnAlaCysValTyrTyrTrpAlaSerAsnTyrGluGlyIleGlyThrThrArgTrpValTyrAspGlyGluGlyAsnGluTyrLeuArgCysTyrTyrTrpAlaValArgThrLeuIleThrIleGlyGlyLeuProGluProGlnThrLeuPheGluIleValPheGlnLeuLeuAsnPhePheSerGlyValPheValPheSerSerLeuIleGlyGlnMetArgAspValIleGlyAlaAlaThrAlaAsnGlnAsnTyrPheArgAlaCysMetAspAspThrIleAlaTyrMetAsnAsnTyrSerIleProLysLeuValGlnLysArgValArgThrTrpTyrGluTyrThrTrpAspSerGlnArgMetLeuAspGluSerAspLeuLeuLysThrLeuProThrThrValGlnLeuAlaLeuAlaIleAspValAsnPheSerIleIleSerLysValAspLeuPheLysGlyCysAspThrGlnMetIleTyrAspMetLeuLeuArgLeuLysSerValLeuTyrLeuProGlyAspPheValCysLysLysGlyGluIleGlyLysGluMetTyrIleIleLysHisGlyGluValGlnValLeuGlyGlyProAspGlyThrLysValLeuValThrLeuLysAlaGlySerValPheGlyGluIleSerLeuLeuAlaAlaGlyGlyGlyAsnArgArgThrAlaAsnValValAlaHisGlyPheAlaAsnLeuLeuThrLeuAspLysLysThrLeuGlnGluIleLeuValHisTyrProAspSerGluArgIleLeuMetLysLysAlaArgValLeuLeuLysGlnLysAlaLysThrAlaGluAlaThrProProArgLysAspLeuAlaLeuLeuPheProProLysGluGluThrProLysLeuPheLysThrLeuLeuGlyGlyThrGlyLysAlaSerLeuAlaArgLeuLeuLysLeuLysArgGluGlnAlaAlaGlnLysLysGluAsnSerGluGlyGlyGluGluGluGlyLysGluAsnGluAspLysGlnLysGluAsnGluAspLysGlnLysGluAsnGluAspLysGlyLysGluAsnGluAspLysAspLysGlyArgGluProGluGluLysProLeuAspArgProGluCysThrAlaSerProIleAlaValGluGluGluProHisSerValArgArgThrValLeuProArgGlyThrSerArgGlnSerLeuIleIleSerMetAlaProSerAlaGluGlyGlyGluGluValLeuThrIleGluValLysGluLysAlaLysGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036086"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 94,
          "referenceAllele": "C",
          "start": 93
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002153",
      "geneNCBI_id": 54714,
      "geneSymbol": "CNGB3",
      "hgvs": [
        "XM_011517138.1:c.-24C>T"
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      "proteinEffect": {
        "hgvs": "XP_011515440.1:n.-24C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS084337"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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        }
      ],
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      "geneNCBI_id": 54714,
      "geneSymbol": "CNGB3",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "XP_011515440.1:n.-24C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS544430"
    },
    {
      "@id": "http://reg.genome.network/allele/PA274002",
      "coordinates": [
        {
          "allele": "T",
          "end": 398,
          "referenceAllele": "C",
          "start": 397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002153",
      "geneNCBI_id": 54714,
      "geneSymbol": "CNGB3",
      "hgvs": [
        "NM_019098.5:c.391C>T"
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      "proteinEffect": {
        "hgvs": "NP_061971.3:p.Gln131Ter",
        "hgvsWellDefined": "NP_061971.3:p.Gln131_Gln809delinsLeuHisAsnLeuValLysArgMetArgGlnArgThrAlaLeuTyrLysLysLysLeuValGluGlyAspLeuSerSerProGluAlaSerProGlnThrAlaLysProThrAlaValProProValLysGluSerAspAspLysProThrGluHisTyrTyrArgLeuLeuTrpPheLysValLysLysMetProLeuThrGluTyrLeuLysArgIleLysLeuProAsnSerIleAspSerTyrThrAspArgLeuTyrLeuLeuTrpLeuLeuLeuValThrLeuAlaTyrAsnTrpAsnCysCysPheIleProLeuArgLeuValPheProTyrGlnThrAlaAspAsnIleHisTyrTrpLeuIleAlaAspIleIleCysAspIleIleTyrLeuTyrAspMetLeuPheIleGlnProArgLeuGlnPheValArgGlyGlyAspIleIleValAspSerAsnGluLeuArgLysHisTyrArgThrSerThrLysPheGlnLeuAspValAlaSerIleIleProPheAspIleCysTyrLeuPhePheGlyPheAsnProMetPheArgAlaAsnArgMetLeuLysTyrThrSerPhePheGluPheAsnHisHisLeuGluSerIleMetAspLysAlaTyrIleTyrArgValIleArgThrThrGlyTyrLeuLeuPheIleLeuHisIleAsnAlaCysValTyrTyrTrpAlaSerAsnTyrGluGlyIleGlyThrThrArgTrpValTyrAspGlyGluGlyAsnGluTyrLeuArgCysTyrTyrTrpAlaValArgThrLeuIleThrIleGlyGlyLeuProGluProGlnThrLeuPheGluIleValPheGlnLeuLeuAsnPhePheSerGlyValPheValPheSerSerLeuIleGlyGlnMetArgAspValIleGlyAlaAlaThrAlaAsnGlnAsnTyrPheArgAlaCysMetAspAspThrIleAlaTyrMetAsnAsnTyrSerIleProLysLeuValGlnLysArgValArgThrTrpTyrGluTyrThrTrpAspSerGlnArgMetLeuAspGluSerAspLeuLeuLysThrLeuProThrThrValGlnLeuAlaLeuAlaIleAspValAsnPheSerIleIleSerLysValAspLeuPheLysGlyCysAspThrGlnMetIleTyrAspMetLeuLeuArgLeuLysSerValLeuTyrLeuProGlyAspPheValCysLysLysGlyGluIleGlyLysGluMetTyrIleIleLysHisGlyGluValGlnValLeuGlyGlyProAspGlyThrLysValLeuValThrLeuLysAlaGlySerValPheGlyGluIleSerLeuLeuAlaAlaGlyGlyGlyAsnArgArgThrAlaAsnValValAlaHisGlyPheAlaAsnLeuLeuThrLeuAspLysLysThrLeuGlnGluIleLeuValHisTyrProAspSerGluArgIleLeuMetLysLysAlaArgValLeuLeuLysGlnLysAlaLysThrAlaGluAlaThrProProArgLysAspLeuAlaLeuLeuPheProProLysGluGluThrProLysLeuPheLysThrLeuLeuGlyGlyThrGlyLysAlaSerLeuAlaArgLeuLeuLysLeuLysArgGluGlnAlaAlaGlnLysLysGluAsnSerGluGlyGlyGluGluGluGlyLysGluAsnGluAspLysGlnLysGluAsnGluAspLysGlnLysGluAsnGluAspLysGlyLysGluAsnGluAspLysAspLysGlyArgGluProGluGluLysProLeuAspArgProGluCysThrAlaSerProIleAlaValGluGluGluProHisSerValArgArgThrValLeuProArgGlyThrSerArgGlnSerLeuIleIleSerMetAlaProSerAlaGluGlyGlyGluGluValLeuThrIleGluValLysGluLysAlaLysGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728397",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000320005.6:c.391C>T"
          },
          "RefSeq": {
            "hgvs": "NM_019098.5:c.391C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000316605.5:p.Gln131Ter"
          },
          "RefSeq": {
            "hgvs": "NP_061971.3:p.Gln131Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}