{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7882797",
  "communityStandardTitle": [
    "NM_024589.3(ROGDI):c.334C>T (p.Gln112Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=495621[alleleid]",
        "alleleId": 495621,
        "preferredName": "NM_024589.3(ROGDI):c.334C>T (p.Gln112Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/504177",
        "RCV": [
          "RCV000598791",
          "RCV001213867"
        ],
        "variationId": 504177
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-4850501-G-A",
        "id": "16-4850501-G-A",
        "variant": "16:4850501 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.4850501G>A?assembly=hg19",
        "id": "chr16:g.4850501G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.4800500G>A?assembly=hg38",
        "id": "chr16:g.4800500G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/372097881",
        "rs": 372097881
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-4850501-G-A?dataset=gnomad_r2_1",
        "id": "16-4850501-G-A",
        "variant": "16:4850501 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-4800500-G-A?dataset=gnomad_r3",
        "id": "16-4800500-G-A",
        "variant": "16:4800500 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-4800500-G-A?dataset=gnomad_r4",
        "id": "16-4800500-G-A",
        "variant": "16:4800500 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 4800500,
          "referenceAllele": "G",
          "start": 4800499
        }
      ],
      "hgvs": [
        "NC_000016.10:g.4800500G>A",
        "CM000678.2:g.4800500G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 4850501,
          "referenceAllele": "G",
          "start": 4850500
        }
      ],
      "hgvs": [
        "NC_000016.9:g.4850501G>A",
        "CM000678.1:g.4850501G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 4790502,
          "referenceAllele": "G",
          "start": 4790501
        }
      ],
      "hgvs": [
        "NC_000016.8:g.4790502G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7451,
          "referenceAllele": "C",
          "start": 7450
        }
      ],
      "hgvs": [
        "NG_032174.1:g.7451C>T",
        "LRG_455:g.7451C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005166"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 396,
          "referenceAllele": "C",
          "start": 395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029478",
      "geneNCBI_id": 79641,
      "geneSymbol": "ROGDI",
      "hgvs": [
        "ENST00000322048.12:c.334C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322832.6:p.Gln112Ter",
        "hgvsWellDefined": "ENSP00000322832.6:p.Gln112_Phe287delinsIleGlnAspAlaArgAsnHisValSerGlnAlaIleTyrLeuLeuThrSerArgAspGlnSerTyrGlnPheLysThrGlyAlaGluValLeuLysLeuMetAspAlaValMetLeuGlnLeuThrArgAlaArgAsnArgLeuThrThrProAlaThrLeuThrLeuProGluIleAlaAlaSerGlyLeuThrArgMetPheAlaProAlaLeuProSerAspLeuLeuValAsnValTyrIleAsnLeuAsnLysLeuCysLeuThrValTyrGlnLeuHisAlaLeuGlnProAsnSerThrLysAsnPheArgProAlaGlyGlyAlaValLeuHisSerProGlyAlaMetPheGluTrpGlySerGlnArgLeuGluValSerHisValHisLysValGluCysValIleProTrpLeuAsnAspAlaLeuValTyrPheThrValSerLeuGlnLeuCysGlnGlnLeuLysAspLysIleSerValPheSerSerTyrTrpSerTyrArgProPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746464",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000322048.12:c.334C>T"
          },
          "RefSeq": {
            "hgvs": "NM_024589.3:c.334C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000322832.6:p.Gln112Ter"
          },
          "RefSeq": {
            "hgvs": "NP_078865.1:p.Gln112Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 713,
          "referenceAllele": "C",
          "start": 712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029478",
      "geneNCBI_id": 79641,
      "geneSymbol": "ROGDI",
      "hgvs": [
        "ENST00000322048.11:c.334C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322832.5:p.Gln112Ter",
        "hgvsWellDefined": "ENSP00000322832.5:p.Gln112_Phe287delinsIleGlnAspAlaArgAsnHisValSerGlnAlaIleTyrLeuLeuThrSerArgAspGlnSerTyrGlnPheLysThrGlyAlaGluValLeuLysLeuMetAspAlaValMetLeuGlnLeuThrArgAlaArgAsnArgLeuThrThrProAlaThrLeuThrLeuProGluIleAlaAlaSerGlyLeuThrArgMetPheAlaProAlaLeuProSerAspLeuLeuValAsnValTyrIleAsnLeuAsnLysLeuCysLeuThrValTyrGlnLeuHisAlaLeuGlnProAsnSerThrLysAsnPheArgProAlaGlyGlyAlaValLeuHisSerProGlyAlaMetPheGluTrpGlySerGlnArgLeuGluValSerHisValHisLysValGluCysValIleProTrpLeuAsnAspAlaLeuValTyrPheThrValSerLeuGlnLeuCysGlnGlnLeuLysAspLysIleSerValPheSerSerTyrTrpSerTyrArgProPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258025"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 466,
          "referenceAllele": "C",
          "start": 465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029478",
      "geneNCBI_id": 79641,
      "geneSymbol": "ROGDI",
      "hgvs": [
        "ENST00000585653.1:n.466C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS388864"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 79,
          "referenceAllele": "C",
          "start": 78
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029478",
      "geneNCBI_id": 79641,
      "geneSymbol": "ROGDI",
      "hgvs": [
        "ENST00000586153.1:c.79C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464699.1:p.Gln27Ter",
        "hgvsWellDefined": "ENSP00000464699.1:p.Gln27_Arg121delinsIleGlnAspAlaArgAsnHisValSerGlnAlaIleTyrLeuLeuThrSerArgAspGlnSerTyrGlnPheLysThrGlyAlaGluValLeuLysArgMetPheAlaProAlaLeuProSerAspLeuLeuValAsnValTyrIleAsnLeuAsnLysLeuCysLeuThrValTyrGlnLeuHisAlaLeuGlnProAsnSerThrLysAsnPheArgProAlaGlyGlyAlaValLeuHisSerProGlyAlaMetPheGlyAlaLeuSerAlaTrpArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS389206"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 433,
          "referenceAllele": "C",
          "start": 432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029478",
      "geneNCBI_id": 79641,
      "geneSymbol": "ROGDI",
      "hgvs": [
        "ENST00000586336.5:n.433C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS389329"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 114,
          "referenceAllele": "C",
          "start": 113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029478",
      "geneNCBI_id": 79641,
      "geneSymbol": "ROGDI",
      "hgvs": [
        "ENST00000586504.5:c.114C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS389431"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 378,
          "referenceAllele": "C",
          "start": 377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029478",
      "geneNCBI_id": 79641,
      "geneSymbol": "ROGDI",
      "hgvs": [
        "ENST00000587377.5:c.334C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468343.1:p.Gln112Ter",
        "hgvsWellDefined": "ENSP00000468343.1:p.Gln112_Ala230delinsIleGlnAspAlaArgAsnHisValSerGlnAlaIleTyrLeuLeuThrSerArgAspGlnSerTyrGlnPheLysThrGlyAlaGluProThrProProLeuProAlaAlaAspGlyArgSerAspAlaAlaAlaAspGlnSerProLysProAlaHisHisProArgHisProHisProProArgAspArgArgGlnArgProHisAlaAspValArgProCysProAlaValArgProAlaGlyGlnArgLeuHisGlnProGlnGlnAlaLeuProHisGlyValProAlaAlaCysProAlaAlaGlnLeuHisGlnGluLeuProProSerTrpGlyArgGlyAlaAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390035"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 173,
          "endIntronDirection": "-",
          "endIntronOffset": 1832,
          "referenceAllele": "C",
          "start": 173,
          "startIntronDirection": "-",
          "startIntronOffset": 1833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029478",
      "geneNCBI_id": 79641,
      "geneSymbol": "ROGDI",
      "hgvs": [
        "ENST00000587711.5:c.118-1833C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467459.1:n.118-1833C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390269"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 341,
          "referenceAllele": "C",
          "start": 340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029478",
      "geneNCBI_id": 79641,
      "geneSymbol": "ROGDI",
      "hgvs": [
        "ENST00000587843.5:c.*72C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465970.1:n.*72C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390363"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 653,
          "referenceAllele": "C",
          "start": 652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029478",
      "geneNCBI_id": 79641,
      "geneSymbol": "ROGDI",
      "hgvs": [
        "ENST00000588201.5:c.*191C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466529.1:n.*191C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390616"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 291,
          "referenceAllele": "C",
          "start": 290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029478",
      "geneNCBI_id": 79641,
      "geneSymbol": "ROGDI",
      "hgvs": [
        "ENST00000589543.5:n.291C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS391561"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1663,
          "referenceAllele": "C",
          "start": 1662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029478",
      "geneNCBI_id": 79641,
      "geneSymbol": "ROGDI",
      "hgvs": [
        "ENST00000591292.5:n.1663C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS392776"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 312,
          "referenceAllele": "C",
          "start": 311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029478",
      "geneNCBI_id": 79641,
      "geneSymbol": "ROGDI",
      "hgvs": [
        "ENST00000591392.5:c.262C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467509.1:p.Gln88Ter",
        "hgvsWellDefined": "ENSP00000467509.1:p.Gln88_Gly254del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392839"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 53,
          "referenceAllele": "C",
          "start": 52
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029478",
      "geneNCBI_id": 79641,
      "geneSymbol": "ROGDI",
      "hgvs": [
        "ENST00000592019.1:c.53C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS393278"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658811871",
      "coordinates": [
        {
          "allele": "T",
          "end": 713,
          "referenceAllele": "C",
          "start": 712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029478",
      "geneNCBI_id": 79641,
      "geneSymbol": "ROGDI",
      "hgvs": [
        "NM_024589.2:c.334C>T",
        "LRG_455t1:c.334C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_078865.1:p.Gln112Ter",
        "hgvsWellDefined": "NP_078865.1:p.Gln112_Phe287delinsIleGlnAspAlaArgAsnHisValSerGlnAlaIleTyrLeuLeuThrSerArgAspGlnSerTyrGlnPheLysThrGlyAlaGluValLeuLysLeuMetAspAlaValMetLeuGlnLeuThrArgAlaArgAsnArgLeuThrThrProAlaThrLeuThrLeuProGluIleAlaAlaSerGlyLeuThrArgMetPheAlaProAlaLeuProSerAspLeuLeuValAsnValTyrIleAsnLeuAsnLysLeuCysLeuThrValTyrGlnLeuHisAlaLeuGlnProAsnSerThrLysAsnPheArgProAlaGlyGlyAlaValLeuHisSerProGlyAlaMetPheGluTrpGlySerGlnArgLeuGluValSerHisValHisLysValGluCysValIleProTrpLeuAsnAspAlaLeuValTyrPheThrValSerLeuGlnLeuCysGlnGlnLeuLysAspLysIleSerValPheSerSerTyrTrpSerTyrArgProPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037848"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 658,
          "referenceAllele": "C",
          "start": 657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029478",
      "geneNCBI_id": 79641,
      "geneSymbol": "ROGDI",
      "hgvs": [
        "NR_046480.1:n.658C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051729"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 394,
          "referenceAllele": "C",
          "start": 393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029478",
      "geneNCBI_id": 79641,
      "geneSymbol": "ROGDI",
      "hgvs": [
        "XM_006720947.2:c.334C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721010.1:p.Gln112Ter",
        "hgvsWellDefined": "XP_006721010.1:p.Gln112_Phe294delinsIleGlnAspAlaArgAsnHisValSerGlnAlaIleTyrLeuLeuThrSerArgAspGlnSerTyrGlnPheLysThrGlyAlaGluValLeuLysLeuMetAspAlaValMetLeuGlnLeuThrArgAlaArgAsnArgLeuThrThrProAlaThrLeuThrLeuProGluIleAlaAlaSerGlyLeuThrArgMetPheAlaProAlaLeuProSerAspLeuLeuValAsnValTyrIleAsnLeuAsnLysLeuCysLeuThrValTyrGlnLeuHisAlaLeuGlnProAsnSerThrLysAsnPheArgProAlaGlyGlyAlaValLeuHisSerProGlyAlaMetLeuAspProLeuThrAlaHisSerGluTrpGlySerGlnArgLeuGluValSerHisValHisLysValGluCysValIleProTrpLeuAsnAspAlaLeuValTyrPheThrValSerLeuGlnLeuCysGlnGlnLeuLysAspLysIleSerValPheSerSerTyrTrpSerTyrArgProPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073870"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 341,
          "referenceAllele": "C",
          "start": 340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029478",
      "geneNCBI_id": 79641,
      "geneSymbol": "ROGDI",
      "hgvs": [
        "XM_006720948.2:c.64C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721011.1:p.Gln22Ter",
        "hgvsWellDefined": "XP_006721011.1:p.Gln22_Phe204delinsIleGlnAspAlaArgAsnHisValSerGlnAlaIleTyrLeuLeuThrSerArgAspGlnSerTyrGlnPheLysThrGlyAlaGluValLeuLysLeuMetAspAlaValMetLeuGlnLeuThrArgAlaArgAsnArgLeuThrThrProAlaThrLeuThrLeuProGluIleAlaAlaSerGlyLeuThrArgMetPheAlaProAlaLeuProSerAspLeuLeuValAsnValTyrIleAsnLeuAsnLysLeuCysLeuThrValTyrGlnLeuHisAlaLeuGlnProAsnSerThrLysAsnPheArgProAlaGlyGlyAlaValLeuHisSerProGlyAlaMetLeuAspProLeuThrAlaHisSerGluTrpGlySerGlnArgLeuGluValSerHisValHisLysValGluCysValIleProTrpLeuAsnAspAlaLeuValTyrPheThrValSerLeuGlnLeuCysGlnGlnLeuLysAspLysIleSerValPheSerSerTyrTrpSerTyrArgProPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073871"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 623,
          "referenceAllele": "C",
          "start": 622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029478",
      "geneNCBI_id": 79641,
      "geneSymbol": "ROGDI",
      "hgvs": [
        "XM_006720947.4:c.334C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721010.1:p.Gln112Ter",
        "hgvsWellDefined": "XP_006721010.1:p.Gln112_Phe294delinsIleGlnAspAlaArgAsnHisValSerGlnAlaIleTyrLeuLeuThrSerArgAspGlnSerTyrGlnPheLysThrGlyAlaGluValLeuLysLeuMetAspAlaValMetLeuGlnLeuThrArgAlaArgAsnArgLeuThrThrProAlaThrLeuThrLeuProGluIleAlaAlaSerGlyLeuThrArgMetPheAlaProAlaLeuProSerAspLeuLeuValAsnValTyrIleAsnLeuAsnLysLeuCysLeuThrValTyrGlnLeuHisAlaLeuGlnProAsnSerThrLysAsnPheArgProAlaGlyGlyAlaValLeuHisSerProGlyAlaMetLeuAspProLeuThrAlaHisSerGluTrpGlySerGlnArgLeuGluValSerHisValHisLysValGluCysValIleProTrpLeuAsnAspAlaLeuValTyrPheThrValSerLeuGlnLeuCysGlnGlnLeuLysAspLysIleSerValPheSerSerTyrTrpSerTyrArgProPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540198"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 568,
          "referenceAllele": "C",
          "start": 567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029478",
      "geneNCBI_id": 79641,
      "geneSymbol": "ROGDI",
      "hgvs": [
        "XM_006720948.4:c.64C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721011.1:p.Gln22Ter",
        "hgvsWellDefined": "XP_006721011.1:p.Gln22_Phe204delinsIleGlnAspAlaArgAsnHisValSerGlnAlaIleTyrLeuLeuThrSerArgAspGlnSerTyrGlnPheLysThrGlyAlaGluValLeuLysLeuMetAspAlaValMetLeuGlnLeuThrArgAlaArgAsnArgLeuThrThrProAlaThrLeuThrLeuProGluIleAlaAlaSerGlyLeuThrArgMetPheAlaProAlaLeuProSerAspLeuLeuValAsnValTyrIleAsnLeuAsnLysLeuCysLeuThrValTyrGlnLeuHisAlaLeuGlnProAsnSerThrLysAsnPheArgProAlaGlyGlyAlaValLeuHisSerProGlyAlaMetLeuAspProLeuThrAlaHisSerGluTrpGlySerGlnArgLeuGluValSerHisValHisLysValGluCysValIleProTrpLeuAsnAspAlaLeuValTyrPheThrValSerLeuGlnLeuCysGlnGlnLeuLysAspLysIleSerValPheSerSerTyrTrpSerTyrArgProPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540199"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658811871",
      "coordinates": [
        {
          "allele": "T",
          "end": 396,
          "referenceAllele": "C",
          "start": 395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029478",
      "geneNCBI_id": 79641,
      "geneSymbol": "ROGDI",
      "hgvs": [
        "NM_024589.3:c.334C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_078865.1:p.Gln112Ter",
        "hgvsWellDefined": "NP_078865.1:p.Gln112_Phe287delinsIleGlnAspAlaArgAsnHisValSerGlnAlaIleTyrLeuLeuThrSerArgAspGlnSerTyrGlnPheLysThrGlyAlaGluValLeuLysLeuMetAspAlaValMetLeuGlnLeuThrArgAlaArgAsnArgLeuThrThrProAlaThrLeuThrLeuProGluIleAlaAlaSerGlyLeuThrArgMetPheAlaProAlaLeuProSerAspLeuLeuValAsnValTyrIleAsnLeuAsnLysLeuCysLeuThrValTyrGlnLeuHisAlaLeuGlnProAsnSerThrLysAsnPheArgProAlaGlyGlyAlaValLeuHisSerProGlyAlaMetPheGluTrpGlySerGlnArgLeuGluValSerHisValHisLysValGluCysValIleProTrpLeuAsnAspAlaLeuValTyrPheThrValSerLeuGlnLeuCysGlnGlnLeuLysAspLysIleSerValPheSerSerTyrTrpSerTyrArgProPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698723",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000322048.12:c.334C>T"
          },
          "RefSeq": {
            "hgvs": "NM_024589.3:c.334C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000322832.6:p.Gln112Ter"
          },
          "RefSeq": {
            "hgvs": "NP_078865.1:p.Gln112Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 341,
          "referenceAllele": "C",
          "start": 340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029478",
      "geneNCBI_id": 79641,
      "geneSymbol": "ROGDI",
      "hgvs": [
        "NR_046480.2:n.341C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730438"
    }
  ],
  "type": "nucleotide"
}