{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA226545",
  "communityStandardTitle": [
    "NM_000329.3(RPE65):c.370C>T (p.Arg124Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=104756[alleleid]",
        "alleleId": 104756,
        "preferredName": "NM_000329.3(RPE65):c.370C>T (p.Arg124Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/98866",
        "RCV": [
          "RCV000085195",
          "RCV000538669",
          "RCV000986332",
          "RCV001275332",
          "RCV002490740",
          "RCV003242981",
          "RCV003888467",
          "RCV003764794"
        ],
        "variationId": 98866
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-68910339-G-A",
        "id": "1-68910339-G-A",
        "variant": "1:68910339 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.68910339G>A?assembly=hg19",
        "id": "chr1:g.68910339G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.68444656G>A?assembly=hg38",
        "id": "chr1:g.68444656G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/61752877",
        "rs": 61752877
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-68910339-G-A?dataset=gnomad_r2_1",
        "id": "1-68910339-G-A",
        "variant": "1:68910339 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-68444656-G-A?dataset=gnomad_r3",
        "id": "1-68444656-G-A",
        "variant": "1:68444656 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-68444656-G-A?dataset=gnomad_r4",
        "id": "1-68444656-G-A",
        "variant": "1:68444656 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 68444656,
          "referenceAllele": "G",
          "start": 68444655
        }
      ],
      "hgvs": [
        "NC_000001.11:g.68444656G>A",
        "CM000663.2:g.68444656G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 68910339,
          "referenceAllele": "G",
          "start": 68910338
        }
      ],
      "hgvs": [
        "NC_000001.10:g.68910339G>A",
        "CM000663.1:g.68910339G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 68682927,
          "referenceAllele": "G",
          "start": 68682926
        }
      ],
      "hgvs": [
        "NC_000001.9:g.68682927G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10304,
          "referenceAllele": "C",
          "start": 10303
        }
      ],
      "hgvs": [
        "NG_008472.1:g.10304C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001112"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10304,
          "referenceAllele": "C",
          "start": 10303
        }
      ],
      "hgvs": [
        "NG_008472.2:g.10304C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673504"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 419,
          "referenceAllele": "C",
          "start": 418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010294",
      "geneNCBI_id": 6121,
      "geneSymbol": "RPE65",
      "hgvs": [
        "ENST00000262340.6:c.370C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262340.5:p.Arg124Ter",
        "hgvsWellDefined": "ENSP00000262340.5:p.Arg124_Ser533delinsGlyValGluValThrAspAsnAlaLeuValAsnValTyrProValGlyGluAspTyrTyrAlaCysThrGluThrAsnPheIleThrLysIleAsnProGluThrLeuGluThrIleLysGlnValAspLeuCysAsnTyrValSerValAsnGlyAlaThrAlaHisProHisIleGluAsnAspGlyThrValTyrAsnIleGlyAsnCysPheGlyLysAsnPheSerIleAlaTyrAsnIleValLysIleProProLeuGlnAlaAspLysGluAspProIleSerLysSerGluIleValValGlnPheProCysSerAspArgPheLysProSerTyrValHisSerPheGlyLeuThrProAsnTyrIleValPheValGluThrProValLysIleAsnLeuPheLysPheLeuSerSerTrpSerLeuTrpGlyAlaAsnTyrMetAspCysPheGluSerAsnGluThrMetGlyValTrpLeuHisIleAlaAspLysLysArgLysLysTyrLeuAsnAsnLysTyrArgThrSerProPheAsnLeuPheHisHisIleAsnThrTyrGluAspAsnGlyPheLeuIleValAspLeuCysCysTrpLysGlyPheGluPheValTyrAsnTyrLeuTyrLeuAlaAsnLeuArgGluAsnTrpGluGluValLysLysAsnAlaArgLysAlaProGlnProGluValArgArgTyrValLeuProLeuAsnIleAspLysAlaAspThrGlyLysAsnLeuValThrLeuProAsnThrThrAlaThrAlaIleLeuCysSerAspGluThrIleTrpLeuGluProGluValLeuPheSerGlyProArgGlnAlaPheGluPheProGlnIleAsnTyrGlnLysTyrCysGlyLysProTyrThrTyrAlaTyrGlyLeuGlyLeuAsnHisPheValProAspArgLeuCysLysLeuAsnValLysThrLysGluThrTrpValTrpGlnGluProAspSerTyrProSerGluProIlePheValSerHisProAspAlaLeuGluGluAspAspGlyValValLeuSerValValValSerProGlyAlaGlyGlnLysProAlaTyrLeuLeuIleLeuAsnAlaLysAspLeuSerGluValAlaArgAlaGluValGluIleAsnIleProValThrPheHisGlyLeuPheLysLysSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742323",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262340.6:c.370C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000329.3:c.370C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262340.5:p.Arg124Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000320.1:p.Arg124Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 424,
          "referenceAllele": "C",
          "start": 423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010294",
      "geneNCBI_id": 6121,
      "geneSymbol": "RPE65",
      "hgvs": [
        "ENST00000262340.5:c.370C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262340.5:p.Arg124Ter",
        "hgvsWellDefined": "ENSP00000262340.5:p.Arg124_Ser533delinsGlyValGluValThrAspAsnAlaLeuValAsnValTyrProValGlyGluAspTyrTyrAlaCysThrGluThrAsnPheIleThrLysIleAsnProGluThrLeuGluThrIleLysGlnValAspLeuCysAsnTyrValSerValAsnGlyAlaThrAlaHisProHisIleGluAsnAspGlyThrValTyrAsnIleGlyAsnCysPheGlyLysAsnPheSerIleAlaTyrAsnIleValLysIleProProLeuGlnAlaAspLysGluAspProIleSerLysSerGluIleValValGlnPheProCysSerAspArgPheLysProSerTyrValHisSerPheGlyLeuThrProAsnTyrIleValPheValGluThrProValLysIleAsnLeuPheLysPheLeuSerSerTrpSerLeuTrpGlyAlaAsnTyrMetAspCysPheGluSerAsnGluThrMetGlyValTrpLeuHisIleAlaAspLysLysArgLysLysTyrLeuAsnAsnLysTyrArgThrSerProPheAsnLeuPheHisHisIleAsnThrTyrGluAspAsnGlyPheLeuIleValAspLeuCysCysTrpLysGlyPheGluPheValTyrAsnTyrLeuTyrLeuAlaAsnLeuArgGluAsnTrpGluGluValLysLysAsnAlaArgLysAlaProGlnProGluValArgArgTyrValLeuProLeuAsnIleAspLysAlaAspThrGlyLysAsnLeuValThrLeuProAsnThrThrAlaThrAlaIleLeuCysSerAspGluThrIleTrpLeuGluProGluValLeuPheSerGlyProArgGlnAlaPheGluPheProGlnIleAsnTyrGlnLysTyrCysGlyLysProTyrThrTyrAlaTyrGlyLeuGlyLeuAsnHisPheValProAspArgLeuCysLysLeuAsnValLysThrLysGluThrTrpValTrpGlnGluProAspSerTyrProSerGluProIlePheValSerHisProAspAlaLeuGluGluAspAspGlyValValLeuSerValValValSerProGlyAlaGlyGlnLysProAlaTyrLeuLeuIleLeuAsnAlaLysAspLeuSerGluValAlaArgAlaGluValGluIleAsnIleProValThrPheHisGlyLeuPheLysLysSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250991"
    },
    {
      "@id": "http://reg.genome.network/allele/PA226546",
      "coordinates": [
        {
          "allele": "T",
          "end": 424,
          "referenceAllele": "C",
          "start": 423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010294",
      "geneNCBI_id": 6121,
      "geneSymbol": "RPE65",
      "hgvs": [
        "NM_000329.2:c.370C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000320.1:p.Arg124Ter",
        "hgvsWellDefined": "NP_000320.1:p.Arg124_Ser533delinsGlyValGluValThrAspAsnAlaLeuValAsnValTyrProValGlyGluAspTyrTyrAlaCysThrGluThrAsnPheIleThrLysIleAsnProGluThrLeuGluThrIleLysGlnValAspLeuCysAsnTyrValSerValAsnGlyAlaThrAlaHisProHisIleGluAsnAspGlyThrValTyrAsnIleGlyAsnCysPheGlyLysAsnPheSerIleAlaTyrAsnIleValLysIleProProLeuGlnAlaAspLysGluAspProIleSerLysSerGluIleValValGlnPheProCysSerAspArgPheLysProSerTyrValHisSerPheGlyLeuThrProAsnTyrIleValPheValGluThrProValLysIleAsnLeuPheLysPheLeuSerSerTrpSerLeuTrpGlyAlaAsnTyrMetAspCysPheGluSerAsnGluThrMetGlyValTrpLeuHisIleAlaAspLysLysArgLysLysTyrLeuAsnAsnLysTyrArgThrSerProPheAsnLeuPheHisHisIleAsnThrTyrGluAspAsnGlyPheLeuIleValAspLeuCysCysTrpLysGlyPheGluPheValTyrAsnTyrLeuTyrLeuAlaAsnLeuArgGluAsnTrpGluGluValLysLysAsnAlaArgLysAlaProGlnProGluValArgArgTyrValLeuProLeuAsnIleAspLysAlaAspThrGlyLysAsnLeuValThrLeuProAsnThrThrAlaThrAlaIleLeuCysSerAspGluThrIleTrpLeuGluProGluValLeuPheSerGlyProArgGlnAlaPheGluPheProGlnIleAsnTyrGlnLysTyrCysGlyLysProTyrThrTyrAlaTyrGlyLeuGlyLeuAsnHisPheValProAspArgLeuCysLysLeuAsnValLysThrLysGluThrTrpValTrpGlnGluProAspSerTyrProSerGluProIlePheValSerHisProAspAlaLeuGluGluAspAspGlyValValLeuSerValValValSerProGlyAlaGlyGlnLysProAlaTyrLeuLeuIleLeuAsnAlaLysAspLeuSerGluValAlaArgAlaGluValGluIleAsnIleProValThrPheHisGlyLeuPheLysLysSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006392"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 636,
          "referenceAllele": "C",
          "start": 635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010294",
      "geneNCBI_id": 6121,
      "geneSymbol": "RPE65",
      "hgvs": [
        "XM_017002027.1:c.94C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857516.1:p.Arg32Ter",
        "hgvsWellDefined": "XP_016857516.1:p.Arg32_Ser441delinsGlyValGluValThrAspAsnAlaLeuValAsnValTyrProValGlyGluAspTyrTyrAlaCysThrGluThrAsnPheIleThrLysIleAsnProGluThrLeuGluThrIleLysGlnValAspLeuCysAsnTyrValSerValAsnGlyAlaThrAlaHisProHisIleGluAsnAspGlyThrValTyrAsnIleGlyAsnCysPheGlyLysAsnPheSerIleAlaTyrAsnIleValLysIleProProLeuGlnAlaAspLysGluAspProIleSerLysSerGluIleValValGlnPheProCysSerAspArgPheLysProSerTyrValHisSerPheGlyLeuThrProAsnTyrIleValPheValGluThrProValLysIleAsnLeuPheLysPheLeuSerSerTrpSerLeuTrpGlyAlaAsnTyrMetAspCysPheGluSerAsnGluThrMetGlyValTrpLeuHisIleAlaAspLysLysArgLysLysTyrLeuAsnAsnLysTyrArgThrSerProPheAsnLeuPheHisHisIleAsnThrTyrGluAspAsnGlyPheLeuIleValAspLeuCysCysTrpLysGlyPheGluPheValTyrAsnTyrLeuTyrLeuAlaAsnLeuArgGluAsnTrpGluGluValLysLysAsnAlaArgLysAlaProGlnProGluValArgArgTyrValLeuProLeuAsnIleAspLysAlaAspThrGlyLysAsnLeuValThrLeuProAsnThrThrAlaThrAlaIleLeuCysSerAspGluThrIleTrpLeuGluProGluValLeuPheSerGlyProArgGlnAlaPheGluPheProGlnIleAsnTyrGlnLysTyrCysGlyLysProTyrThrTyrAlaTyrGlyLeuGlyLeuAsnHisPheValProAspArgLeuCysLysLeuAsnValLysThrLysGluThrTrpValTrpGlnGluProAspSerTyrProSerGluProIlePheValSerHisProAspAlaLeuGluGluAspAspGlyValValLeuSerValValValSerProGlyAlaGlyGlnLysProAlaTyrLeuLeuIleLeuAsnAlaLysAspLeuSerGluValAlaArgAlaGluValGluIleAsnIleProValThrPheHisGlyLeuPheLysLysSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558066"
    },
    {
      "@id": "http://reg.genome.network/allele/PA226546",
      "coordinates": [
        {
          "allele": "T",
          "end": 419,
          "referenceAllele": "C",
          "start": 418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010294",
      "geneNCBI_id": 6121,
      "geneSymbol": "RPE65",
      "hgvs": [
        "NM_000329.3:c.370C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000320.1:p.Arg124Ter",
        "hgvsWellDefined": "NP_000320.1:p.Arg124_Ser533delinsGlyValGluValThrAspAsnAlaLeuValAsnValTyrProValGlyGluAspTyrTyrAlaCysThrGluThrAsnPheIleThrLysIleAsnProGluThrLeuGluThrIleLysGlnValAspLeuCysAsnTyrValSerValAsnGlyAlaThrAlaHisProHisIleGluAsnAspGlyThrValTyrAsnIleGlyAsnCysPheGlyLysAsnPheSerIleAlaTyrAsnIleValLysIleProProLeuGlnAlaAspLysGluAspProIleSerLysSerGluIleValValGlnPheProCysSerAspArgPheLysProSerTyrValHisSerPheGlyLeuThrProAsnTyrIleValPheValGluThrProValLysIleAsnLeuPheLysPheLeuSerSerTrpSerLeuTrpGlyAlaAsnTyrMetAspCysPheGluSerAsnGluThrMetGlyValTrpLeuHisIleAlaAspLysLysArgLysLysTyrLeuAsnAsnLysTyrArgThrSerProPheAsnLeuPheHisHisIleAsnThrTyrGluAspAsnGlyPheLeuIleValAspLeuCysCysTrpLysGlyPheGluPheValTyrAsnTyrLeuTyrLeuAlaAsnLeuArgGluAsnTrpGluGluValLysLysAsnAlaArgLysAlaProGlnProGluValArgArgTyrValLeuProLeuAsnIleAspLysAlaAspThrGlyLysAsnLeuValThrLeuProAsnThrThrAlaThrAlaIleLeuCysSerAspGluThrIleTrpLeuGluProGluValLeuPheSerGlyProArgGlnAlaPheGluPheProGlnIleAsnTyrGlnLysTyrCysGlyLysProTyrThrTyrAlaTyrGlyLeuGlyLeuAsnHisPheValProAspArgLeuCysLysLeuAsnValLysThrLysGluThrTrpValTrpGlnGluProAspSerTyrProSerGluProIlePheValSerHisProAspAlaLeuGluGluAspAspGlyValValLeuSerValValValSerProGlyAlaGlyGlnLysProAlaTyrLeuLeuIleLeuAsnAlaLysAspLeuSerGluValAlaArgAlaGluValGluIleAsnIleProValThrPheHisGlyLeuPheLysLysSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662405",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262340.6:c.370C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000329.3:c.370C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262340.5:p.Arg124Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000320.1:p.Arg124Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}