{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA902588",
  "communityStandardTitle": [
    "NM_000329.3(RPE65):c.130C>T (p.Arg44Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM5586441"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=361383[alleleid]",
        "alleleId": 361383,
        "preferredName": "NM_000329.3(RPE65):c.130C>T (p.Arg44Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/374497",
        "RCV": [
          "RCV000416243",
          "RCV000528380",
          "RCV000787883",
          "RCV001249416",
          "RCV001275339",
          "RCV002466496",
          "RCV003470371",
          "RCV003889879"
        ],
        "variationId": 374497
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-68912508-G-A",
        "id": "1-68912508-G-A",
        "variant": "1:68912508 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.68912508G>A?assembly=hg19",
        "id": "chr1:g.68912508G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.68446825G>A?assembly=hg38",
        "id": "chr1:g.68446825G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/368088025",
        "rs": 368088025
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-68912508-G-A?dataset=gnomad_r2_1",
        "id": "1-68912508-G-A",
        "variant": "1:68912508 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-68446825-G-A?dataset=gnomad_r3",
        "id": "1-68446825-G-A",
        "variant": "1:68446825 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-68446825-G-A?dataset=gnomad_r4",
        "id": "1-68446825-G-A",
        "variant": "1:68446825 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 68446825,
          "referenceAllele": "G",
          "start": 68446824
        }
      ],
      "hgvs": [
        "NC_000001.11:g.68446825G>A",
        "CM000663.2:g.68446825G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 68912508,
          "referenceAllele": "G",
          "start": 68912507
        }
      ],
      "hgvs": [
        "NC_000001.10:g.68912508G>A",
        "CM000663.1:g.68912508G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 68685096,
          "referenceAllele": "G",
          "start": 68685095
        }
      ],
      "hgvs": [
        "NC_000001.9:g.68685096G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8135,
          "referenceAllele": "C",
          "start": 8134
        }
      ],
      "hgvs": [
        "NG_008472.1:g.8135C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001112"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8135,
          "referenceAllele": "C",
          "start": 8134
        }
      ],
      "hgvs": [
        "NG_008472.2:g.8135C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673504"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 179,
          "referenceAllele": "C",
          "start": 178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010294",
      "geneNCBI_id": 6121,
      "geneSymbol": "RPE65",
      "hgvs": [
        "ENST00000262340.6:c.130C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262340.5:p.Arg44Ter",
        "hgvsWellDefined": "ENSP00000262340.5:p.Arg44_Ser533delinsCysGlyProGlyLeuPheGluValGlySerGluProPheTyrHisLeuPheAspGlyGlnAlaLeuLeuHisLysPheAspPheLysGluGlyHisValThrTyrHisArgArgPheIleArgThrAspAlaTyrValArgAlaMetThrGluLysArgIleValIleThrGluPheGlyThrCysAlaPheProAspProCysLysAsnIlePheSerArgPhePheSerTyrPheArgGlyValGluValThrAspAsnAlaLeuValAsnValTyrProValGlyGluAspTyrTyrAlaCysThrGluThrAsnPheIleThrLysIleAsnProGluThrLeuGluThrIleLysGlnValAspLeuCysAsnTyrValSerValAsnGlyAlaThrAlaHisProHisIleGluAsnAspGlyThrValTyrAsnIleGlyAsnCysPheGlyLysAsnPheSerIleAlaTyrAsnIleValLysIleProProLeuGlnAlaAspLysGluAspProIleSerLysSerGluIleValValGlnPheProCysSerAspArgPheLysProSerTyrValHisSerPheGlyLeuThrProAsnTyrIleValPheValGluThrProValLysIleAsnLeuPheLysPheLeuSerSerTrpSerLeuTrpGlyAlaAsnTyrMetAspCysPheGluSerAsnGluThrMetGlyValTrpLeuHisIleAlaAspLysLysArgLysLysTyrLeuAsnAsnLysTyrArgThrSerProPheAsnLeuPheHisHisIleAsnThrTyrGluAspAsnGlyPheLeuIleValAspLeuCysCysTrpLysGlyPheGluPheValTyrAsnTyrLeuTyrLeuAlaAsnLeuArgGluAsnTrpGluGluValLysLysAsnAlaArgLysAlaProGlnProGluValArgArgTyrValLeuProLeuAsnIleAspLysAlaAspThrGlyLysAsnLeuValThrLeuProAsnThrThrAlaThrAlaIleLeuCysSerAspGluThrIleTrpLeuGluProGluValLeuPheSerGlyProArgGlnAlaPheGluPheProGlnIleAsnTyrGlnLysTyrCysGlyLysProTyrThrTyrAlaTyrGlyLeuGlyLeuAsnHisPheValProAspArgLeuCysLysLeuAsnValLysThrLysGluThrTrpValTrpGlnGluProAspSerTyrProSerGluProIlePheValSerHisProAspAlaLeuGluGluAspAspGlyValValLeuSerValValValSerProGlyAlaGlyGlnLysProAlaTyrLeuLeuIleLeuAsnAlaLysAspLeuSerGluValAlaArgAlaGluValGluIleAsnIleProValThrPheHisGlyLeuPheLysLysSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742323",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262340.6:c.130C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000329.3:c.130C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262340.5:p.Arg44Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000320.1:p.Arg44Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 184,
          "referenceAllele": "C",
          "start": 183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010294",
      "geneNCBI_id": 6121,
      "geneSymbol": "RPE65",
      "hgvs": [
        "ENST00000262340.5:c.130C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262340.5:p.Arg44Ter",
        "hgvsWellDefined": "ENSP00000262340.5:p.Arg44_Ser533delinsCysGlyProGlyLeuPheGluValGlySerGluProPheTyrHisLeuPheAspGlyGlnAlaLeuLeuHisLysPheAspPheLysGluGlyHisValThrTyrHisArgArgPheIleArgThrAspAlaTyrValArgAlaMetThrGluLysArgIleValIleThrGluPheGlyThrCysAlaPheProAspProCysLysAsnIlePheSerArgPhePheSerTyrPheArgGlyValGluValThrAspAsnAlaLeuValAsnValTyrProValGlyGluAspTyrTyrAlaCysThrGluThrAsnPheIleThrLysIleAsnProGluThrLeuGluThrIleLysGlnValAspLeuCysAsnTyrValSerValAsnGlyAlaThrAlaHisProHisIleGluAsnAspGlyThrValTyrAsnIleGlyAsnCysPheGlyLysAsnPheSerIleAlaTyrAsnIleValLysIleProProLeuGlnAlaAspLysGluAspProIleSerLysSerGluIleValValGlnPheProCysSerAspArgPheLysProSerTyrValHisSerPheGlyLeuThrProAsnTyrIleValPheValGluThrProValLysIleAsnLeuPheLysPheLeuSerSerTrpSerLeuTrpGlyAlaAsnTyrMetAspCysPheGluSerAsnGluThrMetGlyValTrpLeuHisIleAlaAspLysLysArgLysLysTyrLeuAsnAsnLysTyrArgThrSerProPheAsnLeuPheHisHisIleAsnThrTyrGluAspAsnGlyPheLeuIleValAspLeuCysCysTrpLysGlyPheGluPheValTyrAsnTyrLeuTyrLeuAlaAsnLeuArgGluAsnTrpGluGluValLysLysAsnAlaArgLysAlaProGlnProGluValArgArgTyrValLeuProLeuAsnIleAspLysAlaAspThrGlyLysAsnLeuValThrLeuProAsnThrThrAlaThrAlaIleLeuCysSerAspGluThrIleTrpLeuGluProGluValLeuPheSerGlyProArgGlnAlaPheGluPheProGlnIleAsnTyrGlnLysTyrCysGlyLysProTyrThrTyrAlaTyrGlyLeuGlyLeuAsnHisPheValProAspArgLeuCysLysLeuAsnValLysThrLysGluThrTrpValTrpGlnGluProAspSerTyrProSerGluProIlePheValSerHisProAspAlaLeuGluGluAspAspGlyValValLeuSerValValValSerProGlyAlaGlyGlnLysProAlaTyrLeuLeuIleLeuAsnAlaLysAspLeuSerGluValAlaArgAlaGluValGluIleAsnIleProValThrPheHisGlyLeuPheLysLysSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250991"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645420515",
      "coordinates": [
        {
          "allele": "T",
          "end": 184,
          "referenceAllele": "C",
          "start": 183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010294",
      "geneNCBI_id": 6121,
      "geneSymbol": "RPE65",
      "hgvs": [
        "NM_000329.2:c.130C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000320.1:p.Arg44Ter",
        "hgvsWellDefined": "NP_000320.1:p.Arg44_Ser533delinsCysGlyProGlyLeuPheGluValGlySerGluProPheTyrHisLeuPheAspGlyGlnAlaLeuLeuHisLysPheAspPheLysGluGlyHisValThrTyrHisArgArgPheIleArgThrAspAlaTyrValArgAlaMetThrGluLysArgIleValIleThrGluPheGlyThrCysAlaPheProAspProCysLysAsnIlePheSerArgPhePheSerTyrPheArgGlyValGluValThrAspAsnAlaLeuValAsnValTyrProValGlyGluAspTyrTyrAlaCysThrGluThrAsnPheIleThrLysIleAsnProGluThrLeuGluThrIleLysGlnValAspLeuCysAsnTyrValSerValAsnGlyAlaThrAlaHisProHisIleGluAsnAspGlyThrValTyrAsnIleGlyAsnCysPheGlyLysAsnPheSerIleAlaTyrAsnIleValLysIleProProLeuGlnAlaAspLysGluAspProIleSerLysSerGluIleValValGlnPheProCysSerAspArgPheLysProSerTyrValHisSerPheGlyLeuThrProAsnTyrIleValPheValGluThrProValLysIleAsnLeuPheLysPheLeuSerSerTrpSerLeuTrpGlyAlaAsnTyrMetAspCysPheGluSerAsnGluThrMetGlyValTrpLeuHisIleAlaAspLysLysArgLysLysTyrLeuAsnAsnLysTyrArgThrSerProPheAsnLeuPheHisHisIleAsnThrTyrGluAspAsnGlyPheLeuIleValAspLeuCysCysTrpLysGlyPheGluPheValTyrAsnTyrLeuTyrLeuAlaAsnLeuArgGluAsnTrpGluGluValLysLysAsnAlaArgLysAlaProGlnProGluValArgArgTyrValLeuProLeuAsnIleAspLysAlaAspThrGlyLysAsnLeuValThrLeuProAsnThrThrAlaThrAlaIleLeuCysSerAspGluThrIleTrpLeuGluProGluValLeuPheSerGlyProArgGlnAlaPheGluPheProGlnIleAsnTyrGlnLysTyrCysGlyLysProTyrThrTyrAlaTyrGlyLeuGlyLeuAsnHisPheValProAspArgLeuCysLysLeuAsnValLysThrLysGluThrTrpValTrpGlnGluProAspSerTyrProSerGluProIlePheValSerHisProAspAlaLeuGluGluAspAspGlyValValLeuSerValValValSerProGlyAlaGlyGlnLysProAlaTyrLeuLeuIleLeuAsnAlaLysAspLeuSerGluValAlaArgAlaGluValGluIleAsnIleProValThrPheHisGlyLeuPheLysLysSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006392"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 511,
          "endIntronDirection": "+",
          "endIntronOffset": 1799,
          "referenceAllele": "C",
          "start": 511,
          "startIntronDirection": "+",
          "startIntronOffset": 1798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010294",
      "geneNCBI_id": 6121,
      "geneSymbol": "RPE65",
      "hgvs": [
        "XM_017002027.1:c.-32+1799C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857516.1:n.-32+1799C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558066"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645420515",
      "coordinates": [
        {
          "allele": "T",
          "end": 179,
          "referenceAllele": "C",
          "start": 178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010294",
      "geneNCBI_id": 6121,
      "geneSymbol": "RPE65",
      "hgvs": [
        "NM_000329.3:c.130C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000320.1:p.Arg44Ter",
        "hgvsWellDefined": "NP_000320.1:p.Arg44_Ser533delinsCysGlyProGlyLeuPheGluValGlySerGluProPheTyrHisLeuPheAspGlyGlnAlaLeuLeuHisLysPheAspPheLysGluGlyHisValThrTyrHisArgArgPheIleArgThrAspAlaTyrValArgAlaMetThrGluLysArgIleValIleThrGluPheGlyThrCysAlaPheProAspProCysLysAsnIlePheSerArgPhePheSerTyrPheArgGlyValGluValThrAspAsnAlaLeuValAsnValTyrProValGlyGluAspTyrTyrAlaCysThrGluThrAsnPheIleThrLysIleAsnProGluThrLeuGluThrIleLysGlnValAspLeuCysAsnTyrValSerValAsnGlyAlaThrAlaHisProHisIleGluAsnAspGlyThrValTyrAsnIleGlyAsnCysPheGlyLysAsnPheSerIleAlaTyrAsnIleValLysIleProProLeuGlnAlaAspLysGluAspProIleSerLysSerGluIleValValGlnPheProCysSerAspArgPheLysProSerTyrValHisSerPheGlyLeuThrProAsnTyrIleValPheValGluThrProValLysIleAsnLeuPheLysPheLeuSerSerTrpSerLeuTrpGlyAlaAsnTyrMetAspCysPheGluSerAsnGluThrMetGlyValTrpLeuHisIleAlaAspLysLysArgLysLysTyrLeuAsnAsnLysTyrArgThrSerProPheAsnLeuPheHisHisIleAsnThrTyrGluAspAsnGlyPheLeuIleValAspLeuCysCysTrpLysGlyPheGluPheValTyrAsnTyrLeuTyrLeuAlaAsnLeuArgGluAsnTrpGluGluValLysLysAsnAlaArgLysAlaProGlnProGluValArgArgTyrValLeuProLeuAsnIleAspLysAlaAspThrGlyLysAsnLeuValThrLeuProAsnThrThrAlaThrAlaIleLeuCysSerAspGluThrIleTrpLeuGluProGluValLeuPheSerGlyProArgGlnAlaPheGluPheProGlnIleAsnTyrGlnLysTyrCysGlyLysProTyrThrTyrAlaTyrGlyLeuGlyLeuAsnHisPheValProAspArgLeuCysLysLeuAsnValLysThrLysGluThrTrpValTrpGlnGluProAspSerTyrProSerGluProIlePheValSerHisProAspAlaLeuGluGluAspAspGlyValValLeuSerValValValSerProGlyAlaGlyGlnLysProAlaTyrLeuLeuIleLeuAsnAlaLysAspLeuSerGluValAlaArgAlaGluValGluIleAsnIleProValThrPheHisGlyLeuPheLysLysSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662405",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262340.6:c.130C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000329.3:c.130C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262340.5:p.Arg44Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000320.1:p.Arg44Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}