{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA204615",
  "communityStandardTitle": [
    "NM_001122769.3(LCA5):c.835C>T (p.Gln279Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=16007[alleleid]",
        "alleleId": 16007,
        "preferredName": "NM_001122769.3(LCA5):c.835C>T (p.Gln279Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/968",
        "RCV": [
          "RCV000001019",
          "RCV000190663",
          "RCV000812173",
          "RCV001003073",
          "RCV001073263"
        ],
        "variationId": 968
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/6-80203353-G-A",
        "id": "6-80203353-G-A",
        "variant": "6:80203353 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.80203353G>A?assembly=hg19",
        "id": "chr6:g.80203353G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.79493636G>A?assembly=hg38",
        "id": "chr6:g.79493636G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121918165",
        "rs": 121918165
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-80203353-G-A?dataset=gnomad_r2_1",
        "id": "6-80203353-G-A",
        "variant": "6:80203353 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-79493636-G-A?dataset=gnomad_r3",
        "id": "6-79493636-G-A",
        "variant": "6:79493636 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-79493636-G-A?dataset=gnomad_r4",
        "id": "6-79493636-G-A",
        "variant": "6:79493636 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 79493636,
          "referenceAllele": "G",
          "start": 79493635
        }
      ],
      "hgvs": [
        "NC_000006.12:g.79493636G>A",
        "CM000668.2:g.79493636G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 80203353,
          "referenceAllele": "G",
          "start": 80203352
        }
      ],
      "hgvs": [
        "NC_000006.11:g.80203353G>A",
        "CM000668.1:g.80203353G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 80260072,
          "referenceAllele": "G",
          "start": 80260071
        }
      ],
      "hgvs": [
        "NC_000006.10:g.80260072G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 48795,
          "referenceAllele": "C",
          "start": 48794
        }
      ],
      "hgvs": [
        "NG_016011.1:g.48795C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002954"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1292,
          "referenceAllele": "C",
          "start": 1291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031923",
      "geneNCBI_id": 167691,
      "geneSymbol": "LCA5",
      "hgvs": [
        "ENST00000369846.9:c.835C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358861.4:p.Gln279Ter",
        "hgvsWellDefined": "ENSP00000358861.4:p.Gln279_Arg697delinsArgLeuTyrHisLysLeuLysGluLysGluArgGluLeuAspIleLysAsnIleTyrSerAsnArgLeuProLysSerSerProAsnLysGluLysGluLeuAlaLeuArgLysAsnAlaAlaCysGlnSerAspPheAlaAspLeuCysThrLysGlyValGlnThrMetGluAspPheLysProGluGluTyrProLeuThrProGluThrIleMetCysTyrGluAsnLysTrpGluGluProGlyHisLeuThrLeuAspLeuGlnSerGlnLysGlnAspArgHisGlyGluAlaGlyIleLeuAsnProIleMetGluArgGluGluLysPheValThrAspGluGluLeuHisValValLysGlnGluValGluLysLeuGluAspGluTrpGluArgGluGluLeuAspLysLysGlnLysGluLysAlaSerLeuLeuGluArgGluGluLysProGluTrpGluThrGlyArgTyrGlnLeuGlyMetTyrProIleGlnAsnMetAspLysLeuGlnGlyGluGluGluGluArgLeuLysArgGluMetLeuLeuAlaLysLeuAsnGluIleAspArgGluLeuGlnAspSerArgAsnLeuLysTyrProValLeuProLeuLeuProAspPheGluSerLysLeuHisSerProGluArgSerProLysThrTyrArgPheSerGluSerSerGluArgLeuPheAsnGlyHisHisLeuGlnAspIleSerPheSerThrProLysGlyGluGlyGlnAsnSerGlyAsnValArgSerProAlaSerProAsnGluPheAlaPheGlySerTyrValProSerPheAlaLysThrSerGluArgSerAsnProPheSerGlnLysSerSerPheLeuAspPheGlnArgAsnSerMetGluLysLeuSerLysAspGlyValAspLeuIleThrArgLysGluLysLysAlaAsnLeuMetGluGlnLeuPheGlyAlaSerGlySerSerThrIleSerSerLysSerSerAspProAsnSerValAlaSerSerLysGlyAspIleAspProLeuAsnPheLeuProGlyAsnLysGlySerArgAspGlnGluHisAspGluAspGluGlyPhePheLeuSerGluGlyArgSerPheAsnProAsnArgHisArgLeuLysHisAlaAspAspLysProAlaValLysAlaAlaAspSerValGluAspGluIleGluGluValAlaLeuArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750486",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369846.9:c.835C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001122769.3:c.835C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358861.4:p.Gln279Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001116241.1:p.Gln279Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1270,
          "referenceAllele": "C",
          "start": 1269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031923",
      "geneNCBI_id": 167691,
      "geneSymbol": "LCA5",
      "hgvs": [
        "ENST00000369846.8:c.835C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358861.4:p.Gln279Ter",
        "hgvsWellDefined": "ENSP00000358861.4:p.Gln279_Arg697delinsArgLeuTyrHisLysLeuLysGluLysGluArgGluLeuAspIleLysAsnIleTyrSerAsnArgLeuProLysSerSerProAsnLysGluLysGluLeuAlaLeuArgLysAsnAlaAlaCysGlnSerAspPheAlaAspLeuCysThrLysGlyValGlnThrMetGluAspPheLysProGluGluTyrProLeuThrProGluThrIleMetCysTyrGluAsnLysTrpGluGluProGlyHisLeuThrLeuAspLeuGlnSerGlnLysGlnAspArgHisGlyGluAlaGlyIleLeuAsnProIleMetGluArgGluGluLysPheValThrAspGluGluLeuHisValValLysGlnGluValGluLysLeuGluAspGluTrpGluArgGluGluLeuAspLysLysGlnLysGluLysAlaSerLeuLeuGluArgGluGluLysProGluTrpGluThrGlyArgTyrGlnLeuGlyMetTyrProIleGlnAsnMetAspLysLeuGlnGlyGluGluGluGluArgLeuLysArgGluMetLeuLeuAlaLysLeuAsnGluIleAspArgGluLeuGlnAspSerArgAsnLeuLysTyrProValLeuProLeuLeuProAspPheGluSerLysLeuHisSerProGluArgSerProLysThrTyrArgPheSerGluSerSerGluArgLeuPheAsnGlyHisHisLeuGlnAspIleSerPheSerThrProLysGlyGluGlyGlnAsnSerGlyAsnValArgSerProAlaSerProAsnGluPheAlaPheGlySerTyrValProSerPheAlaLysThrSerGluArgSerAsnProPheSerGlnLysSerSerPheLeuAspPheGlnArgAsnSerMetGluLysLeuSerLysAspGlyValAspLeuIleThrArgLysGluLysLysAlaAsnLeuMetGluGlnLeuPheGlyAlaSerGlySerSerThrIleSerSerLysSerSerAspProAsnSerValAlaSerSerLysGlyAspIleAspProLeuAsnPheLeuProGlyAsnLysGlySerArgAspGlnGluHisAspGluAspGluGlyPhePheLeuSerGluGlyArgSerPheAsnProAsnArgHisArgLeuLysHisAlaAspAspLysProAlaValLysAlaAlaAspSerValGluAspGluIleGluGluValAlaLeuArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267739"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1447,
          "referenceAllele": "C",
          "start": 1446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031923",
      "geneNCBI_id": 167691,
      "geneSymbol": "LCA5",
      "hgvs": [
        "ENST00000392959.5:c.835C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376686.1:p.Gln279Ter",
        "hgvsWellDefined": "ENSP00000376686.1:p.Gln279_Arg697delinsArgLeuTyrHisLysLeuLysGluLysGluArgGluLeuAspIleLysAsnIleTyrSerAsnArgLeuProLysSerSerProAsnLysGluLysGluLeuAlaLeuArgLysAsnAlaAlaCysGlnSerAspPheAlaAspLeuCysThrLysGlyValGlnThrMetGluAspPheLysProGluGluTyrProLeuThrProGluThrIleMetCysTyrGluAsnLysTrpGluGluProGlyHisLeuThrLeuAspLeuGlnSerGlnLysGlnAspArgHisGlyGluAlaGlyIleLeuAsnProIleMetGluArgGluGluLysPheValThrAspGluGluLeuHisValValLysGlnGluValGluLysLeuGluAspGluTrpGluArgGluGluLeuAspLysLysGlnLysGluLysAlaSerLeuLeuGluArgGluGluLysProGluTrpGluThrGlyArgTyrGlnLeuGlyMetTyrProIleGlnAsnMetAspLysLeuGlnGlyGluGluGluGluArgLeuLysArgGluMetLeuLeuAlaLysLeuAsnGluIleAspArgGluLeuGlnAspSerArgAsnLeuLysTyrProValLeuProLeuLeuProAspPheGluSerLysLeuHisSerProGluArgSerProLysThrTyrArgPheSerGluSerSerGluArgLeuPheAsnGlyHisHisLeuGlnAspIleSerPheSerThrProLysGlyGluGlyGlnAsnSerGlyAsnValArgSerProAlaSerProAsnGluPheAlaPheGlySerTyrValProSerPheAlaLysThrSerGluArgSerAsnProPheSerGlnLysSerSerPheLeuAspPheGlnArgAsnSerMetGluLysLeuSerLysAspGlyValAspLeuIleThrArgLysGluLysLysAlaAsnLeuMetGluGlnLeuPheGlyAlaSerGlySerSerThrIleSerSerLysSerSerAspProAsnSerValAlaSerSerLysGlyAspIleAspProLeuAsnPheLeuProGlyAsnLysGlySerArgAspGlnGluHisAspGluAspGluGlyPhePheLeuSerGluGlyArgSerPheAsnProAsnArgHisArgLeuLysHisAlaAspAspLysProAlaValLysAlaAlaAspSerValGluAspGluIleGluGluValAlaLeuArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275373"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1242,
          "referenceAllele": "C",
          "start": 1241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031923",
      "geneNCBI_id": 167691,
      "geneSymbol": "LCA5",
      "hgvs": [
        "ENST00000467898.3:c.835C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000474463.1:p.Gln279Ter",
        "hgvsWellDefined": "ENSP00000474463.1:p.Gln279_Glu430delinsArgLeuTyrHisLysLeuLysGluLysGluArgGluLeuAspIleLysAsnIleTyrSerAsnArgLeuProLysSerSerProAsnLysGluLysGluLeuAlaLeuArgLysAsnAlaAlaCysGlnSerAspPheAlaAspLeuCysThrLysGlyValGlnThrMetGluAspPheLysProGluGluTyrProLeuThrProGluThrIleMetCysTyrGluAsnLysTrpGluGluProGlyHisLeuThrLeuAspLeuGlnSerGlnLysGlnAspArgHisGlyGluAlaGlyIleLeuAsnProIleMetGluArgGluGluLysPheValThrAspGluGluLeuHisValValLysGlnGluValGluLysLeuGluAspGlyLysLysLysSerLeuPheLysHisValThrSerGlnHisProLeuArgLysLysGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS310939"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825586924",
      "coordinates": [
        {
          "allele": "T",
          "end": 1292,
          "referenceAllele": "C",
          "start": 1291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031923",
      "geneNCBI_id": 167691,
      "geneSymbol": "LCA5",
      "hgvs": [
        "NM_001122769.2:c.835C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001116241.1:p.Gln279Ter",
        "hgvsWellDefined": "NP_001116241.1:p.Gln279_Arg697delinsArgLeuTyrHisLysLeuLysGluLysGluArgGluLeuAspIleLysAsnIleTyrSerAsnArgLeuProLysSerSerProAsnLysGluLysGluLeuAlaLeuArgLysAsnAlaAlaCysGlnSerAspPheAlaAspLeuCysThrLysGlyValGlnThrMetGluAspPheLysProGluGluTyrProLeuThrProGluThrIleMetCysTyrGluAsnLysTrpGluGluProGlyHisLeuThrLeuAspLeuGlnSerGlnLysGlnAspArgHisGlyGluAlaGlyIleLeuAsnProIleMetGluArgGluGluLysPheValThrAspGluGluLeuHisValValLysGlnGluValGluLysLeuGluAspGluTrpGluArgGluGluLeuAspLysLysGlnLysGluLysAlaSerLeuLeuGluArgGluGluLysProGluTrpGluThrGlyArgTyrGlnLeuGlyMetTyrProIleGlnAsnMetAspLysLeuGlnGlyGluGluGluGluArgLeuLysArgGluMetLeuLeuAlaLysLeuAsnGluIleAspArgGluLeuGlnAspSerArgAsnLeuLysTyrProValLeuProLeuLeuProAspPheGluSerLysLeuHisSerProGluArgSerProLysThrTyrArgPheSerGluSerSerGluArgLeuPheAsnGlyHisHisLeuGlnAspIleSerPheSerThrProLysGlyGluGlyGlnAsnSerGlyAsnValArgSerProAlaSerProAsnGluPheAlaPheGlySerTyrValProSerPheAlaLysThrSerGluArgSerAsnProPheSerGlnLysSerSerPheLeuAspPheGlnArgAsnSerMetGluLysLeuSerLysAspGlyValAspLeuIleThrArgLysGluLysLysAlaAsnLeuMetGluGlnLeuPheGlyAlaSerGlySerSerThrIleSerSerLysSerSerAspProAsnSerValAlaSerSerLysGlyAspIleAspProLeuAsnPheLeuProGlyAsnLysGlySerArgAspGlnGluHisAspGluAspGluGlyPhePheLeuSerGluGlyArgSerPheAsnProAsnArgHisArgLeuLysHisAlaAspAspLysProAlaValLysAlaAlaAspSerValGluAspGluIleGluGluValAlaLeuArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011402"
    },
    {
      "@id": "http://reg.genome.network/allele/PA204616",
      "coordinates": [
        {
          "allele": "T",
          "end": 1447,
          "referenceAllele": "C",
          "start": 1446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031923",
      "geneNCBI_id": 167691,
      "geneSymbol": "LCA5",
      "hgvs": [
        "NM_181714.3:c.835C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_859065.2:p.Gln279Ter",
        "hgvsWellDefined": "NP_859065.2:p.Gln279_Arg697delinsArgLeuTyrHisLysLeuLysGluLysGluArgGluLeuAspIleLysAsnIleTyrSerAsnArgLeuProLysSerSerProAsnLysGluLysGluLeuAlaLeuArgLysAsnAlaAlaCysGlnSerAspPheAlaAspLeuCysThrLysGlyValGlnThrMetGluAspPheLysProGluGluTyrProLeuThrProGluThrIleMetCysTyrGluAsnLysTrpGluGluProGlyHisLeuThrLeuAspLeuGlnSerGlnLysGlnAspArgHisGlyGluAlaGlyIleLeuAsnProIleMetGluArgGluGluLysPheValThrAspGluGluLeuHisValValLysGlnGluValGluLysLeuGluAspGluTrpGluArgGluGluLeuAspLysLysGlnLysGluLysAlaSerLeuLeuGluArgGluGluLysProGluTrpGluThrGlyArgTyrGlnLeuGlyMetTyrProIleGlnAsnMetAspLysLeuGlnGlyGluGluGluGluArgLeuLysArgGluMetLeuLeuAlaLysLeuAsnGluIleAspArgGluLeuGlnAspSerArgAsnLeuLysTyrProValLeuProLeuLeuProAspPheGluSerLysLeuHisSerProGluArgSerProLysThrTyrArgPheSerGluSerSerGluArgLeuPheAsnGlyHisHisLeuGlnAspIleSerPheSerThrProLysGlyGluGlyGlnAsnSerGlyAsnValArgSerProAlaSerProAsnGluPheAlaPheGlySerTyrValProSerPheAlaLysThrSerGluArgSerAsnProPheSerGlnLysSerSerPheLeuAspPheGlnArgAsnSerMetGluLysLeuSerLysAspGlyValAspLeuIleThrArgLysGluLysLysAlaAsnLeuMetGluGlnLeuPheGlyAlaSerGlySerSerThrIleSerSerLysSerSerAspProAsnSerValAlaSerSerLysGlyAspIleAspProLeuAsnPheLeuProGlyAsnLysGlySerArgAspGlnGluHisAspGluAspGluGlyPhePheLeuSerGluGlyArgSerPheAsnProAsnArgHisArgLeuLysHisAlaAspAspLysProAlaValLysAlaAlaAspSerValGluAspGluIleGluGluValAlaLeuArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043838"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1298,
          "referenceAllele": "C",
          "start": 1297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031923",
      "geneNCBI_id": 167691,
      "geneSymbol": "LCA5",
      "hgvs": [
        "XM_005248665.3:c.835C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248722.1:p.Gln279Ter",
        "hgvsWellDefined": "XP_005248722.1:p.Gln279_Arg697delinsArgLeuTyrHisLysLeuLysGluLysGluArgGluLeuAspIleLysAsnIleTyrSerAsnArgLeuProLysSerSerProAsnLysGluLysGluLeuAlaLeuArgLysAsnAlaAlaCysGlnSerAspPheAlaAspLeuCysThrLysGlyValGlnThrMetGluAspPheLysProGluGluTyrProLeuThrProGluThrIleMetCysTyrGluAsnLysTrpGluGluProGlyHisLeuThrLeuAspLeuGlnSerGlnLysGlnAspArgHisGlyGluAlaGlyIleLeuAsnProIleMetGluArgGluGluLysPheValThrAspGluGluLeuHisValValLysGlnGluValGluLysLeuGluAspGluTrpGluArgGluGluLeuAspLysLysGlnLysGluLysAlaSerLeuLeuGluArgGluGluLysProGluTrpGluThrGlyArgTyrGlnLeuGlyMetTyrProIleGlnAsnMetAspLysLeuGlnGlyGluGluGluGluArgLeuLysArgGluMetLeuLeuAlaLysLeuAsnGluIleAspArgGluLeuGlnAspSerArgAsnLeuLysTyrProValLeuProLeuLeuProAspPheGluSerLysLeuHisSerProGluArgSerProLysThrTyrArgPheSerGluSerSerGluArgLeuPheAsnGlyHisHisLeuGlnAspIleSerPheSerThrProLysGlyGluGlyGlnAsnSerGlyAsnValArgSerProAlaSerProAsnGluPheAlaPheGlySerTyrValProSerPheAlaLysThrSerGluArgSerAsnProPheSerGlnLysSerSerPheLeuAspPheGlnArgAsnSerMetGluLysLeuSerLysAspGlyValAspLeuIleThrArgLysGluLysLysAlaAsnLeuMetGluGlnLeuPheGlyAlaSerGlySerSerThrIleSerSerLysSerSerAspProAsnSerValAlaSerSerLysGlyAspIleAspProLeuAsnPheLeuProGlyAsnLysGlySerArgAspGlnGluHisAspGluAspGluGlyPhePheLeuSerGluGlyArgSerPheAsnProAsnArgHisArgLeuLysHisAlaAspAspLysProAlaValLysAlaAlaAspSerValGluAspGluIleGluGluValAlaLeuArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058532"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1359,
          "referenceAllele": "C",
          "start": 1358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031923",
      "geneNCBI_id": 167691,
      "geneSymbol": "LCA5",
      "hgvs": [
        "XM_011535504.1:c.835C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533806.1:p.Gln279Ter",
        "hgvsWellDefined": "XP_011533806.1:p.Gln279_Arg697delinsArgLeuTyrHisLysLeuLysGluLysGluArgGluLeuAspIleLysAsnIleTyrSerAsnArgLeuProLysSerSerProAsnLysGluLysGluLeuAlaLeuArgLysAsnAlaAlaCysGlnSerAspPheAlaAspLeuCysThrLysGlyValGlnThrMetGluAspPheLysProGluGluTyrProLeuThrProGluThrIleMetCysTyrGluAsnLysTrpGluGluProGlyHisLeuThrLeuAspLeuGlnSerGlnLysGlnAspArgHisGlyGluAlaGlyIleLeuAsnProIleMetGluArgGluGluLysPheValThrAspGluGluLeuHisValValLysGlnGluValGluLysLeuGluAspGluTrpGluArgGluGluLeuAspLysLysGlnLysGluLysAlaSerLeuLeuGluArgGluGluLysProGluTrpGluThrGlyArgTyrGlnLeuGlyMetTyrProIleGlnAsnMetAspLysLeuGlnGlyGluGluGluGluArgLeuLysArgGluMetLeuLeuAlaLysLeuAsnGluIleAspArgGluLeuGlnAspSerArgAsnLeuLysTyrProValLeuProLeuLeuProAspPheGluSerLysLeuHisSerProGluArgSerProLysThrTyrArgPheSerGluSerSerGluArgLeuPheAsnGlyHisHisLeuGlnAspIleSerPheSerThrProLysGlyGluGlyGlnAsnSerGlyAsnValArgSerProAlaSerProAsnGluPheAlaPheGlySerTyrValProSerPheAlaLysThrSerGluArgSerAsnProPheSerGlnLysSerSerPheLeuAspPheGlnArgAsnSerMetGluLysLeuSerLysAspGlyValAspLeuIleThrArgLysGluLysLysAlaAsnLeuMetGluGlnLeuPheGlyAlaSerGlySerSerThrIleSerSerLysSerSerAspProAsnSerValAlaSerSerLysGlyAspIleAspProLeuAsnPheLeuProGlyAsnLysGlySerArgAspGlnGluHisAspGluAspGluGlyPhePheLeuSerGluGlyArgSerPheAsnProAsnArgHisArgLeuLysHisAlaAspAspLysProAlaValLysAlaAlaAspSerValGluAspGluIleGluGluValAlaLeuArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102508"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1306,
          "referenceAllele": "C",
          "start": 1305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031923",
      "geneNCBI_id": 167691,
      "geneSymbol": "LCA5",
      "hgvs": [
        "XM_005248665.4:c.835C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248722.1:p.Gln279Ter",
        "hgvsWellDefined": "XP_005248722.1:p.Gln279_Arg697delinsArgLeuTyrHisLysLeuLysGluLysGluArgGluLeuAspIleLysAsnIleTyrSerAsnArgLeuProLysSerSerProAsnLysGluLysGluLeuAlaLeuArgLysAsnAlaAlaCysGlnSerAspPheAlaAspLeuCysThrLysGlyValGlnThrMetGluAspPheLysProGluGluTyrProLeuThrProGluThrIleMetCysTyrGluAsnLysTrpGluGluProGlyHisLeuThrLeuAspLeuGlnSerGlnLysGlnAspArgHisGlyGluAlaGlyIleLeuAsnProIleMetGluArgGluGluLysPheValThrAspGluGluLeuHisValValLysGlnGluValGluLysLeuGluAspGluTrpGluArgGluGluLeuAspLysLysGlnLysGluLysAlaSerLeuLeuGluArgGluGluLysProGluTrpGluThrGlyArgTyrGlnLeuGlyMetTyrProIleGlnAsnMetAspLysLeuGlnGlyGluGluGluGluArgLeuLysArgGluMetLeuLeuAlaLysLeuAsnGluIleAspArgGluLeuGlnAspSerArgAsnLeuLysTyrProValLeuProLeuLeuProAspPheGluSerLysLeuHisSerProGluArgSerProLysThrTyrArgPheSerGluSerSerGluArgLeuPheAsnGlyHisHisLeuGlnAspIleSerPheSerThrProLysGlyGluGlyGlnAsnSerGlyAsnValArgSerProAlaSerProAsnGluPheAlaPheGlySerTyrValProSerPheAlaLysThrSerGluArgSerAsnProPheSerGlnLysSerSerPheLeuAspPheGlnArgAsnSerMetGluLysLeuSerLysAspGlyValAspLeuIleThrArgLysGluLysLysAlaAsnLeuMetGluGlnLeuPheGlyAlaSerGlySerSerThrIleSerSerLysSerSerAspProAsnSerValAlaSerSerLysGlyAspIleAspProLeuAsnPheLeuProGlyAsnLysGlySerArgAspGlnGluHisAspGluAspGluGlyPhePheLeuSerGluGlyArgSerPheAsnProAsnArgHisArgLeuLysHisAlaAspAspLysProAlaValLysAlaAlaAspSerValGluAspGluIleGluGluValAlaLeuArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533124"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825586924",
      "coordinates": [
        {
          "allele": "T",
          "end": 1292,
          "referenceAllele": "C",
          "start": 1291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031923",
      "geneNCBI_id": 167691,
      "geneSymbol": "LCA5",
      "hgvs": [
        "NM_001122769.3:c.835C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001116241.1:p.Gln279Ter",
        "hgvsWellDefined": "NP_001116241.1:p.Gln279_Arg697delinsArgLeuTyrHisLysLeuLysGluLysGluArgGluLeuAspIleLysAsnIleTyrSerAsnArgLeuProLysSerSerProAsnLysGluLysGluLeuAlaLeuArgLysAsnAlaAlaCysGlnSerAspPheAlaAspLeuCysThrLysGlyValGlnThrMetGluAspPheLysProGluGluTyrProLeuThrProGluThrIleMetCysTyrGluAsnLysTrpGluGluProGlyHisLeuThrLeuAspLeuGlnSerGlnLysGlnAspArgHisGlyGluAlaGlyIleLeuAsnProIleMetGluArgGluGluLysPheValThrAspGluGluLeuHisValValLysGlnGluValGluLysLeuGluAspGluTrpGluArgGluGluLeuAspLysLysGlnLysGluLysAlaSerLeuLeuGluArgGluGluLysProGluTrpGluThrGlyArgTyrGlnLeuGlyMetTyrProIleGlnAsnMetAspLysLeuGlnGlyGluGluGluGluArgLeuLysArgGluMetLeuLeuAlaLysLeuAsnGluIleAspArgGluLeuGlnAspSerArgAsnLeuLysTyrProValLeuProLeuLeuProAspPheGluSerLysLeuHisSerProGluArgSerProLysThrTyrArgPheSerGluSerSerGluArgLeuPheAsnGlyHisHisLeuGlnAspIleSerPheSerThrProLysGlyGluGlyGlnAsnSerGlyAsnValArgSerProAlaSerProAsnGluPheAlaPheGlySerTyrValProSerPheAlaLysThrSerGluArgSerAsnProPheSerGlnLysSerSerPheLeuAspPheGlnArgAsnSerMetGluLysLeuSerLysAspGlyValAspLeuIleThrArgLysGluLysLysAlaAsnLeuMetGluGlnLeuPheGlyAlaSerGlySerSerThrIleSerSerLysSerSerAspProAsnSerValAlaSerSerLysGlyAspIleAspProLeuAsnPheLeuProGlyAsnLysGlySerArgAspGlnGluHisAspGluAspGluGlyPhePheLeuSerGluGlyArgSerPheAsnProAsnArgHisArgLeuLysHisAlaAspAspLysProAlaValLysAlaAlaAspSerValGluAspGluIleGluGluValAlaLeuArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663531",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369846.9:c.835C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001122769.3:c.835C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358861.4:p.Gln279Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001116241.1:p.Gln279Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA204616",
      "coordinates": [
        {
          "allele": "T",
          "end": 1447,
          "referenceAllele": "C",
          "start": 1446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031923",
      "geneNCBI_id": 167691,
      "geneSymbol": "LCA5",
      "hgvs": [
        "NM_181714.4:c.835C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_859065.2:p.Gln279Ter",
        "hgvsWellDefined": "NP_859065.2:p.Gln279_Arg697delinsArgLeuTyrHisLysLeuLysGluLysGluArgGluLeuAspIleLysAsnIleTyrSerAsnArgLeuProLysSerSerProAsnLysGluLysGluLeuAlaLeuArgLysAsnAlaAlaCysGlnSerAspPheAlaAspLeuCysThrLysGlyValGlnThrMetGluAspPheLysProGluGluTyrProLeuThrProGluThrIleMetCysTyrGluAsnLysTrpGluGluProGlyHisLeuThrLeuAspLeuGlnSerGlnLysGlnAspArgHisGlyGluAlaGlyIleLeuAsnProIleMetGluArgGluGluLysPheValThrAspGluGluLeuHisValValLysGlnGluValGluLysLeuGluAspGluTrpGluArgGluGluLeuAspLysLysGlnLysGluLysAlaSerLeuLeuGluArgGluGluLysProGluTrpGluThrGlyArgTyrGlnLeuGlyMetTyrProIleGlnAsnMetAspLysLeuGlnGlyGluGluGluGluArgLeuLysArgGluMetLeuLeuAlaLysLeuAsnGluIleAspArgGluLeuGlnAspSerArgAsnLeuLysTyrProValLeuProLeuLeuProAspPheGluSerLysLeuHisSerProGluArgSerProLysThrTyrArgPheSerGluSerSerGluArgLeuPheAsnGlyHisHisLeuGlnAspIleSerPheSerThrProLysGlyGluGlyGlnAsnSerGlyAsnValArgSerProAlaSerProAsnGluPheAlaPheGlySerTyrValProSerPheAlaLysThrSerGluArgSerAsnProPheSerGlnLysSerSerPheLeuAspPheGlnArgAsnSerMetGluLysLeuSerLysAspGlyValAspLeuIleThrArgLysGluLysLysAlaAsnLeuMetGluGlnLeuPheGlyAlaSerGlySerSerThrIleSerSerLysSerSerAspProAsnSerValAlaSerSerLysGlyAspIleAspProLeuAsnPheLeuProGlyAsnLysGlySerArgAspGlnGluHisAspGluAspGluGlyPhePheLeuSerGluGlyArgSerPheAsnProAsnArgHisArgLeuLysHisAlaAspAspLysProAlaValLysAlaAlaAspSerValGluAspGluIleGluGluValAlaLeuArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701002"
    }
  ],
  "type": "nucleotide"
}