{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3594121",
  "communityStandardTitle": [
    "NM_000843.4(GRM6):c.1336C>T (p.Arg446Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1209066",
        "active": true,
        "id": "COSM1209066"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1060376[alleleid]",
        "alleleId": 1060376,
        "preferredName": "NM_000843.4(GRM6):c.1336C>T (p.Arg446Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1072852",
        "RCV": [
          "RCV001385681",
          "RCV001810046"
        ],
        "variationId": 1072852
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-178415954-G-A",
        "id": "5-178415954-G-A",
        "variant": "5:178415954 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.178415954G>A?assembly=hg19",
        "id": "chr5:g.178415954G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.178988953G>A?assembly=hg38",
        "id": "chr5:g.178988953G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/764476239",
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      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-178415954-G-A?dataset=gnomad_r2_1",
        "id": "5-178415954-G-A",
        "variant": "5:178415954 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-178988953-G-A?dataset=gnomad_r3",
        "id": "5-178988953-G-A",
        "variant": "5:178988953 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-178988953-G-A?dataset=gnomad_r4",
        "id": "5-178988953-G-A",
        "variant": "5:178988953 G / A"
      }
    ]
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      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
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          "start": 178988952
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      "hgvs": [
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 178415954,
          "referenceAllele": "G",
          "start": 178415953
        }
      ],
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        "CM000667.1:g.178415954G>A"
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 178348560,
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          "start": 178348559
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      ],
      "hgvs": [
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11171,
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          "start": 11170
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      ],
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS000850"
    }
  ],
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    {
      "coordinates": [
        {
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        }
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      "geneNCBI_id": 2916,
      "geneSymbol": "GRM6",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758576",
      "MANE": {
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            "hgvs": "ENST00000517717.3:c.1336C>T"
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          "RefSeq": {
            "hgvs": "NM_000843.4:c.1336C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000430767.1:p.Arg446Ter"
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          "RefSeq": {
            "hgvs": "NP_000834.2:p.Arg446Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1717,
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          "start": 1716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004598",
      "geneNCBI_id": 2916,
      "geneSymbol": "GRM6",
      "hgvs": [
        "ENST00000650031.1:c.1336C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000497110.1:p.Arg446_Lys877delinsAlaValArgPheAsnGlySerAlaGlyThrProValMetPheAsnGluAsnGlyAspAlaProGlyArgTyrAspIlePheGlnTyrGlnAlaThrAsnGlySerAlaSerSerGlyGlyTyrGlnAlaValGlyGlnTrpAlaGluThrLeuArgLeuAspValGluAlaLeuGlnTrpSerGlyAspProHisGluValProSerSerLeuCysSerLeuProCysGlyProGlyGluArgLysLysMetValLysGlyValProCysCysTrpHisCysGluAlaCysAspGlyTyrArgPheGlnValAspGluPheThrCysGluAlaCysProGlyAspMetArgProThrProAsnHisThrGlyCysArgProThrProValValArgLeuSerTrpSerSerProTrpAlaAlaProProLeuLeuLeuAlaValLeuGlyIleValAlaThrThrThrValValAlaThrPheValArgTyrAsnAsnThrProIleValArgAlaSerGlyArgGluLeuSerTyrValLeuLeuThrGlyIlePheLeuIleTyrAlaIleThrPheLeuMetValAlaGluProGlyAlaAlaValCysAlaAlaArgArgLeuPheLeuGlyLeuGlyThrThrLeuSerTyrSerAlaLeuLeuThrLysThrAsnArgIleTyrArgIlePheGluGlnGlyLysArgSerValThrProProProPheIleSerProThrSerGlnLeuValIleThrPheSerLeuThrSerLeuGlnValValGlyMetIleAlaTrpLeuGlyAlaArgProProHisSerValIleAspTyrGluGluGlnArgThrValAspProGluGlnAlaArgGlyValLeuLysCysAspMetSerAspLeuSerLeuIleGlyCysLeuGlyTyrSerLeuLeuLeuMetValThrCysThrValTyrAlaIleLysAlaArgGlyValProGluThrPheAsnGluAlaLysProIleGlyPheThrMetTyrThrThrCysIleIleTrpLeuAlaPheValProIlePhePheGlyThrAlaGlnSerAlaGluLysIleTyrIleGlnThrThrThrLeuThrValSerLeuSerLeuSerAlaSerValSerLeuGlyMetLeuTyrValProLysThrTyrValIleLeuPheHisProGluGlnAsnValGlnLysArgLysArgSerLeuLysAlaThrSerThrValAlaAlaProProLysGlyGluAspAlaGluAlaHisLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770895"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1515,
          "referenceAllele": "C",
          "start": 1514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004598",
      "geneNCBI_id": 2916,
      "geneSymbol": "GRM6",
      "hgvs": [
        "ENST00000231188.9:c.1336C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000231188.5:p.Arg446Ter",
        "hgvsWellDefined": "ENSP00000231188.5:p.Arg446_Lys877delinsAlaValArgPheAsnGlySerAlaGlyThrProValMetPheAsnGluAsnGlyAspAlaProGlyArgTyrAspIlePheGlnTyrGlnAlaThrAsnGlySerAlaSerSerGlyGlyTyrGlnAlaValGlyGlnTrpAlaGluThrLeuArgLeuAspValGluAlaLeuGlnTrpSerGlyAspProHisGluValProSerSerLeuCysSerLeuProCysGlyProGlyGluArgLysLysMetValLysGlyValProCysCysTrpHisCysGluAlaCysAspGlyTyrArgPheGlnValAspGluPheThrCysGluAlaCysProGlyAspMetArgProThrProAsnHisThrGlyCysArgProThrProValValArgLeuSerTrpSerSerProTrpAlaAlaProProLeuLeuLeuAlaValLeuGlyIleValAlaThrThrThrValValAlaThrPheValArgTyrAsnAsnThrProIleValArgAlaSerGlyArgGluLeuSerTyrValLeuLeuThrGlyIlePheLeuIleTyrAlaIleThrPheLeuMetValAlaGluProGlyAlaAlaValCysAlaAlaArgArgLeuPheLeuGlyLeuGlyThrThrLeuSerTyrSerAlaLeuLeuThrLysThrAsnArgIleTyrArgIlePheGluGlnGlyLysArgSerValThrProProProPheIleSerProThrSerGlnLeuValIleThrPheSerLeuThrSerLeuGlnValValGlyMetIleAlaTrpLeuGlyAlaArgProProHisSerValIleAspTyrGluGluGlnArgThrValAspProGluGlnAlaArgGlyValLeuLysCysAspMetSerAspLeuSerLeuIleGlyCysLeuGlyTyrSerLeuLeuLeuMetValThrCysThrValTyrAlaIleLysAlaArgGlyValProGluThrPheAsnGluAlaLysProIleGlyPheThrMetTyrThrThrCysIleIleTrpLeuAlaPheValProIlePhePheGlyThrAlaGlnSerAlaGluLysIleTyrIleGlnThrThrThrLeuThrValSerLeuSerLeuSerAlaSerValSerLeuGlyMetLeuTyrValProLysThrTyrValIleLeuPheHisProGluGlnAsnValGlnLysArgLysArgSerLeuLysAlaThrSerThrValAlaAlaProProLysGlyGluAspAlaGluAlaHisLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248781"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1375,
          "referenceAllele": "C",
          "start": 1374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004598",
      "geneNCBI_id": 2916,
      "geneSymbol": "GRM6",
      "hgvs": [
        "ENST00000517717.1:c.1336C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000430767.1:p.Arg446_Lys877delinsAlaValArgPheAsnGlySerAlaGlyThrProValMetPheAsnGluAsnGlyAspAlaProGlyArgTyrAspIlePheGlnTyrGlnAlaThrAsnGlySerAlaSerSerGlyGlyTyrGlnAlaValGlyGlnTrpAlaGluThrLeuArgLeuAspValGluAlaLeuGlnTrpSerGlyAspProHisGluValProSerSerLeuCysSerLeuProCysGlyProGlyGluArgLysLysMetValLysGlyValProCysCysTrpHisCysGluAlaCysAspGlyTyrArgPheGlnValAspGluPheThrCysGluAlaCysProGlyAspMetArgProThrProAsnHisThrGlyCysArgProThrProValValArgLeuSerTrpSerSerProTrpAlaAlaProProLeuLeuLeuAlaValLeuGlyIleValAlaThrThrThrValValAlaThrPheValArgTyrAsnAsnThrProIleValArgAlaSerGlyArgGluLeuSerTyrValLeuLeuThrGlyIlePheLeuIleTyrAlaIleThrPheLeuMetValAlaGluProGlyAlaAlaValCysAlaAlaArgArgLeuPheLeuGlyLeuGlyThrThrLeuSerTyrSerAlaLeuLeuThrLysThrAsnArgIleTyrArgIlePheGluGlnGlyLysArgSerValThrProProProPheIleSerProThrSerGlnLeuValIleThrPheSerLeuThrSerLeuGlnValValGlyMetIleAlaTrpLeuGlyAlaArgProProHisSerValIleAspTyrGluGluGlnArgThrValAspProGluGlnAlaArgGlyValLeuLysCysAspMetSerAspLeuSerLeuIleGlyCysLeuGlyTyrSerLeuLeuLeuMetValThrCysThrValTyrAlaIleLysAlaArgGlyValProGluThrPheAsnGluAlaLysProIleGlyPheThrMetTyrThrThrCysIleIleTrpLeuAlaPheValProIlePhePheGlyThrAlaGlnSerAlaGluLysIleTyrIleGlnThrThrThrLeuThrValSerLeuSerLeuSerAlaSerValSerLeuGlyMetLeuTyrValProLysThrTyrValIleLeuPheHisProGluGlnAsnValGlnLysArgLysArgSerLeuLysAlaThrSerThrValAlaAlaProProLysGlyGluAspAlaGluAlaHisLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS345331"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 20,
          "referenceAllele": "C",
          "start": 19
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004598",
      "geneNCBI_id": 2916,
      "geneSymbol": "GRM6",
      "hgvs": [
        "ENST00000518082.1:n.20C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS345611"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499234345",
      "coordinates": [
        {
          "allele": "T",
          "end": 1515,
          "referenceAllele": "C",
          "start": 1514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004598",
      "geneNCBI_id": 2916,
      "geneSymbol": "GRM6",
      "hgvs": [
        "NM_000843.3:c.1336C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000834.2:p.Arg446Ter",
        "hgvsWellDefined": "NP_000834.2:p.Arg446_Lys877delinsAlaValArgPheAsnGlySerAlaGlyThrProValMetPheAsnGluAsnGlyAspAlaProGlyArgTyrAspIlePheGlnTyrGlnAlaThrAsnGlySerAlaSerSerGlyGlyTyrGlnAlaValGlyGlnTrpAlaGluThrLeuArgLeuAspValGluAlaLeuGlnTrpSerGlyAspProHisGluValProSerSerLeuCysSerLeuProCysGlyProGlyGluArgLysLysMetValLysGlyValProCysCysTrpHisCysGluAlaCysAspGlyTyrArgPheGlnValAspGluPheThrCysGluAlaCysProGlyAspMetArgProThrProAsnHisThrGlyCysArgProThrProValValArgLeuSerTrpSerSerProTrpAlaAlaProProLeuLeuLeuAlaValLeuGlyIleValAlaThrThrThrValValAlaThrPheValArgTyrAsnAsnThrProIleValArgAlaSerGlyArgGluLeuSerTyrValLeuLeuThrGlyIlePheLeuIleTyrAlaIleThrPheLeuMetValAlaGluProGlyAlaAlaValCysAlaAlaArgArgLeuPheLeuGlyLeuGlyThrThrLeuSerTyrSerAlaLeuLeuThrLysThrAsnArgIleTyrArgIlePheGluGlnGlyLysArgSerValThrProProProPheIleSerProThrSerGlnLeuValIleThrPheSerLeuThrSerLeuGlnValValGlyMetIleAlaTrpLeuGlyAlaArgProProHisSerValIleAspTyrGluGluGlnArgThrValAspProGluGlnAlaArgGlyValLeuLysCysAspMetSerAspLeuSerLeuIleGlyCysLeuGlyTyrSerLeuLeuLeuMetValThrCysThrValTyrAlaIleLysAlaArgGlyValProGluThrPheAsnGluAlaLysProIleGlyPheThrMetTyrThrThrCysIleIleTrpLeuAlaPheValProIlePhePheGlyThrAlaGlnSerAlaGluLysIleTyrIleGlnThrThrThrLeuThrValSerLeuSerLeuSerAlaSerValSerLeuGlyMetLeuTyrValProLysThrTyrValIleLeuPheHisProGluGlnAsnValGlnLysArgLysArgSerLeuLysAlaThrSerThrValAlaAlaProProLysGlyGluAspAlaGluAlaHisLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006871"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1469,
          "endIntronDirection": "-",
          "endIntronOffset": 793,
          "referenceAllele": "G",
          "start": 1469,
          "startIntronDirection": "-",
          "startIntronOffset": 794
        }
      ],
      "hgvs": [
        "XR_941310.1:n.1470-794G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136006"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499234345",
      "coordinates": [
        {
          "allele": "T",
          "end": 1397,
          "referenceAllele": "C",
          "start": 1396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004598",
      "geneNCBI_id": 2916,
      "geneSymbol": "GRM6",
      "hgvs": [
        "NM_000843.4:c.1336C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000834.2:p.Arg446Ter",
        "hgvsWellDefined": "NP_000834.2:p.Arg446_Lys877delinsAlaValArgPheAsnGlySerAlaGlyThrProValMetPheAsnGluAsnGlyAspAlaProGlyArgTyrAspIlePheGlnTyrGlnAlaThrAsnGlySerAlaSerSerGlyGlyTyrGlnAlaValGlyGlnTrpAlaGluThrLeuArgLeuAspValGluAlaLeuGlnTrpSerGlyAspProHisGluValProSerSerLeuCysSerLeuProCysGlyProGlyGluArgLysLysMetValLysGlyValProCysCysTrpHisCysGluAlaCysAspGlyTyrArgPheGlnValAspGluPheThrCysGluAlaCysProGlyAspMetArgProThrProAsnHisThrGlyCysArgProThrProValValArgLeuSerTrpSerSerProTrpAlaAlaProProLeuLeuLeuAlaValLeuGlyIleValAlaThrThrThrValValAlaThrPheValArgTyrAsnAsnThrProIleValArgAlaSerGlyArgGluLeuSerTyrValLeuLeuThrGlyIlePheLeuIleTyrAlaIleThrPheLeuMetValAlaGluProGlyAlaAlaValCysAlaAlaArgArgLeuPheLeuGlyLeuGlyThrThrLeuSerTyrSerAlaLeuLeuThrLysThrAsnArgIleTyrArgIlePheGluGlnGlyLysArgSerValThrProProProPheIleSerProThrSerGlnLeuValIleThrPheSerLeuThrSerLeuGlnValValGlyMetIleAlaTrpLeuGlyAlaArgProProHisSerValIleAspTyrGluGluGlnArgThrValAspProGluGlnAlaArgGlyValLeuLysCysAspMetSerAspLeuSerLeuIleGlyCysLeuGlyTyrSerLeuLeuLeuMetValThrCysThrValTyrAlaIleLysAlaArgGlyValProGluThrPheAsnGluAlaLysProIleGlyPheThrMetTyrThrThrCysIleIleTrpLeuAlaPheValProIlePhePheGlyThrAlaGlnSerAlaGluLysIleTyrIleGlnThrThrThrLeuThrValSerLeuSerLeuSerAlaSerValSerLeuGlyMetLeuTyrValProLysThrTyrValIleLeuPheHisProGluGlnAsnValGlnLysArgLysArgSerLeuLysAlaThrSerThrValAlaAlaProProLysGlyGluAspAlaGluAlaHisLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510860",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000517717.3:c.1336C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000843.4:c.1336C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000430767.1:p.Arg446Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000834.2:p.Arg446Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}