{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA354496086",
  "communityStandardTitle": [
    "NM_000539.3(RHO):c.180C>G (p.Tyr60Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1059602[alleleid]",
        "alleleId": 1059602,
        "preferredName": "NM_000539.3(RHO):c.180C>G (p.Tyr60Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1070456",
        "RCV": [
          "RCV001382599"
        ],
        "variationId": 1070456
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.129247756C>G?assembly=hg19",
        "id": "chr3:g.129247756C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.129528913C>G?assembly=hg38",
        "id": "chr3:g.129528913C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/527236101",
        "rs": 527236101
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-129528913-C-G?dataset=gnomad_r4",
        "id": "3-129528913-C-G",
        "variant": "3:129528913 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 129528913,
          "referenceAllele": "C",
          "start": 129528912
        }
      ],
      "hgvs": [
        "NC_000003.12:g.129528913C>G",
        "CM000665.2:g.129528913C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 129247756,
          "referenceAllele": "C",
          "start": 129247755
        }
      ],
      "hgvs": [
        "NC_000003.11:g.129247756C>G",
        "CM000665.1:g.129247756C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 130730446,
          "referenceAllele": "C",
          "start": 130730445
        }
      ],
      "hgvs": [
        "NC_000003.10:g.130730446C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5275,
          "referenceAllele": "C",
          "start": 5274
        }
      ],
      "hgvs": [
        "NG_009115.1:g.5275C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001449"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 275,
          "referenceAllele": "C",
          "start": 274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010012",
      "geneNCBI_id": 6010,
      "geneSymbol": "RHO",
      "hgvs": [
        "ENST00000296271.4:c.180C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000296271.3:p.Tyr60Ter",
        "hgvsWellDefined": "ENSP00000296271.3:p.Tyr60_Ala348delinsValThrValGlnHisLysLysLeuArgThrProLeuAsnTyrIleLeuLeuAsnLeuAlaValAlaAspLeuPheMetValLeuGlyGlyPheThrSerThrLeuTyrThrSerLeuHisGlyTyrPheValPheGlyProThrGlyCysAsnLeuGluGlyPhePheAlaThrLeuGlyGlyGluIleAlaLeuTrpSerLeuValValLeuAlaIleGluArgTyrValValValCysLysProMetSerAsnPheArgPheGlyGluAsnHisAlaIleMetGlyValAlaPheThrTrpValMetAlaLeuAlaCysAlaAlaProProLeuAlaGlyTrpSerArgTyrIleProGluGlyLeuGlnCysSerCysGlyIleAspTyrTyrThrLeuLysProGluValAsnAsnGluSerPheValIleTyrMetPheValValHisPheThrIleProMetIleIleIlePhePheCysTyrGlyGlnLeuValPheThrValLysGluAlaAlaAlaGlnGlnGlnGluSerAlaThrThrGlnLysAlaGluLysGluValThrArgMetValIleIleMetValIleAlaPheLeuIleCysTrpValProTyrAlaSerValAlaPheTyrIlePheThrHisGlnGlySerAsnPheGlyProIlePheMetThrIleProAlaPhePheAlaLysSerAlaAlaIleTyrAsnProValIleTyrIleMetMetAsnLysGlnPheArgAsnCysMetLeuThrThrIleCysCysGlyLysAsnProLeuGlyAspAspGluAlaSerAlaThrValSerLysThrGluThrSerGlnValAlaProAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744392",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000296271.4:c.180C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000539.3:c.180C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000296271.3:p.Tyr60Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000530.1:p.Tyr60Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
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          "end": 274,
          "referenceAllele": "C",
          "start": 273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010012",
      "geneNCBI_id": 6010,
      "geneSymbol": "RHO",
      "hgvs": [
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000296271.3:p.Tyr60_Ala348delinsValThrValGlnHisLysLysLeuArgThrProLeuAsnTyrIleLeuLeuAsnLeuAlaValAlaAspLeuPheMetValLeuGlyGlyPheThrSerThrLeuTyrThrSerLeuHisGlyTyrPheValPheGlyProThrGlyCysAsnLeuGluGlyPhePheAlaThrLeuGlyGlyGluIleAlaLeuTrpSerLeuValValLeuAlaIleGluArgTyrValValValCysLysProMetSerAsnPheArgPheGlyGluAsnHisAlaIleMetGlyValAlaPheThrTrpValMetAlaLeuAlaCysAlaAlaProProLeuAlaGlyTrpSerArgTyrIleProGluGlyLeuGlnCysSerCysGlyIleAspTyrTyrThrLeuLysProGluValAsnAsnGluSerPheValIleTyrMetPheValValHisPheThrIleProMetIleIleIlePhePheCysTyrGlyGlnLeuValPheThrValLysGluAlaAlaAlaGlnGlnGlnGluSerAlaThrThrGlnLysAlaGluLysGluValThrArgMetValIleIleMetValIleAlaPheLeuIleCysTrpValProTyrAlaSerValAlaPheTyrIlePheThrHisGlnGlySerAsnPheGlyProIlePheMetThrIleProAlaPhePheAlaLysSerAlaAlaIleTyrAsnProValIleTyrIleMetMetAsnLysGlnPheArgAsnCysMetLeuThrThrIleCysCysGlyLysAsnProLeuGlyAspAspGluAlaSerAlaThrValSerLysThrGluThrSerGlnValAlaProAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254265"
    },
    {
      "@id": "http://reg.genome.network/allele/PA270022",
      "coordinates": [
        {
          "allele": "G",
          "end": 275,
          "referenceAllele": "C",
          "start": 274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010012",
      "geneNCBI_id": 6010,
      "geneSymbol": "RHO",
      "hgvs": [
        "NM_000539.3:c.180C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000530.1:p.Tyr60Ter",
        "hgvsWellDefined": "NP_000530.1:p.Tyr60_Ala348delinsValThrValGlnHisLysLysLeuArgThrProLeuAsnTyrIleLeuLeuAsnLeuAlaValAlaAspLeuPheMetValLeuGlyGlyPheThrSerThrLeuTyrThrSerLeuHisGlyTyrPheValPheGlyProThrGlyCysAsnLeuGluGlyPhePheAlaThrLeuGlyGlyGluIleAlaLeuTrpSerLeuValValLeuAlaIleGluArgTyrValValValCysLysProMetSerAsnPheArgPheGlyGluAsnHisAlaIleMetGlyValAlaPheThrTrpValMetAlaLeuAlaCysAlaAlaProProLeuAlaGlyTrpSerArgTyrIleProGluGlyLeuGlnCysSerCysGlyIleAspTyrTyrThrLeuLysProGluValAsnAsnGluSerPheValIleTyrMetPheValValHisPheThrIleProMetIleIleIlePhePheCysTyrGlyGlnLeuValPheThrValLysGluAlaAlaAlaGlnGlnGlnGluSerAlaThrThrGlnLysAlaGluLysGluValThrArgMetValIleIleMetValIleAlaPheLeuIleCysTrpValProTyrAlaSerValAlaPheTyrIlePheThrHisGlnGlySerAsnPheGlyProIlePheMetThrIleProAlaPhePheAlaLysSerAlaAlaIleTyrAsnProValIleTyrIleMetMetAsnLysGlnPheArgAsnCysMetLeuThrThrIleCysCysGlyLysAsnProLeuGlyAspAspGluAlaSerAlaThrValSerLysThrGluThrSerGlnValAlaProAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006597",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000296271.4:c.180C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000539.3:c.180C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000296271.3:p.Tyr60Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000530.1:p.Tyr60Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}