{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA202721",
  "communityStandardTitle": [
    "NM_007325.5(GRIA3):c.646C>T (p.Arg216Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=194329[alleleid]",
        "alleleId": 194329,
        "preferredName": "NM_007325.5(GRIA3):c.646C>T (p.Arg216Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/197168",
        "RCV": [
          "RCV000178131",
          "RCV003152691"
        ],
        "variationId": 197168
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.122460014C>T?assembly=hg19",
        "id": "chrX:g.122460014C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.123326163C>T?assembly=hg38",
        "id": "chrX:g.123326163C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/139990565",
        "rs": 139990565
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-123326163-C-T?dataset=gnomad_r4",
        "id": "X-123326163-C-T",
        "variant": "X:123326163 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 123326163,
          "referenceAllele": "C",
          "start": 123326162
        }
      ],
      "hgvs": [
        "NC_000023.11:g.123326163C>T",
        "CM000685.2:g.123326163C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 122460014,
          "referenceAllele": "C",
          "start": 122460013
        }
      ],
      "hgvs": [
        "NC_000023.10:g.122460014C>T",
        "CM000685.1:g.122460014C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 122287695,
          "referenceAllele": "C",
          "start": 122287694
        }
      ],
      "hgvs": [
        "NC_000023.9:g.122287695C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 146921,
          "referenceAllele": "C",
          "start": 146920
        }
      ],
      "hgvs": [
        "NG_009377.2:g.146921C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001579"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 904,
          "referenceAllele": "C",
          "start": 903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004573",
      "geneNCBI_id": 2892,
      "geneSymbol": "GRIA3",
      "hgvs": [
        "ENST00000620443.2:c.646C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478489.1:p.Arg216Ter",
        "hgvsWellDefined": "ENSP00000478489.1:p.Arg216_Ile894delinsTyrLeuIleAspCysGluValGluArgIleAsnThrIleLeuGluGlnValValIleLeuGlyLysHisSerArgGlyTyrHisTyrMetLeuAlaAsnLeuGlyPheThrAspIleLeuLeuGluArgValMetHisGlyGlyAlaAsnIleThrGlyPheGlnIleValAsnAsnGluAsnProMetValGlnGlnPheIleGlnArgTrpValArgLeuAspGluArgGluPheProGluAlaLysAsnAlaProLeuLysTyrThrSerAlaLeuThrHisAspAlaIleLeuValIleAlaGluAlaPheArgTyrLeuArgArgGlnArgValAspValSerArgArgGlySerAlaGlyAspCysLeuAlaAsnProAlaValProTrpSerGlnGlyIleAspIleGluArgAlaLeuLysMetValGlnValGlnGlyMetThrGlyAsnIleGlnPheAspThrTyrGlyArgArgThrAsnTyrThrIleAspValTyrGluMetLysValSerGlySerArgLysAlaGlyTyrTrpAsnGluTyrGluArgPheValProPheSerAspGlnGlnIleSerAsnAspSerAlaSerSerGluAsnArgThrIleValValThrThrIleLeuGluSerProTyrValMetTyrLysLysAsnHisGluGlnLeuGluGlyAsnGluArgTyrGluGlyTyrCysValAspLeuAlaTyrGluIleAlaLysHisValArgIleLysTyrLysLeuSerIleValGlyAspGlyLysTyrGlyAlaArgAspProGluThrLysIleTrpAsnGlyMetValGlyGluLeuValTyrGlyArgAlaAspIleAlaValAlaProLeuThrIleThrLeuValArgGluGluValIleAspPheSerLysProPheMetSerLeuGlyIleSerIleMetIleLysLysProGlnLysSerLysProGlyValPheSerPheLeuAspProLeuAlaTyrGluIleTrpMetCysIleValPheAlaTyrIleGlyValSerValValLeuPheLeuValSerArgPheSerProTyrGluTrpHisLeuGluAspAsnAsnGluGluProArgAspProGlnSerProProAspProProAsnGluPheGlyIlePheAsnSerLeuTrpPheSerLeuGlyAlaPheMetGlnGlnGlyCysAspIleSerProArgSerLeuSerGlyArgIleValGlyGlyValTrpTrpPhePheThrLeuIleIleIleSerSerTyrThrAlaAsnLeuAlaAlaPheLeuThrValGluArgMetValSerProIleGluSerAlaGluAspLeuAlaLysGlnThrGluIleAlaTyrGlyThrLeuAspSerGlySerThrLysGluPhePheArgArgSerLysIleAlaValTyrGluLysMetTrpSerTyrMetLysSerAlaGluProSerValPheThrLysThrThrAlaAspGlyValAlaArgValArgLysSerLysGlyLysPheAlaPheLeuLeuGluSerThrMetAsnGluTyrIleGluGlnArgLysProCysAspThrMetLysValGlyGlyAsnLeuAspSerLysGlyTyrGlyValAlaThrProLysGlySerAlaLeuArgThrProValAsnLeuAlaValLeuLysLeuSerGluGlnGlyIleLeuAspLysLeuLysAsnLysTrpTrpTyrAspLysGlyGluCysGlyAlaLysAspSerGlySerLysAspLysThrSerAlaLeuSerLeuSerAsnValAlaGlyValPheTyrIleLeuValGlyGlyLeuGlyLeuAlaMetMetValAlaLeuIleGluPheCysTyrLysSerArgAlaGluSerLysArgMetLysLeuThrLysAsnThrGlnAsnPheLysProAlaProAlaThrAsnThrGlnAsnTyrAlaThrTyrArgGluGlyTyrAsnValTyrGlyThrGluSerValLysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762284",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000620443.2:c.646C>T"
          },
          "RefSeq": {
            "hgvs": "NM_007325.5:c.646C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000478489.1:p.Arg216Ter"
          },
          "RefSeq": {
            "hgvs": "NP_015564.5:p.Arg216Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 904,
          "referenceAllele": "C",
          "start": 903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004573",
      "geneNCBI_id": 2892,
      "geneSymbol": "GRIA3",
      "hgvs": [
        "ENST00000622768.5:c.646C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481554.1:p.Arg216Ter",
        "hgvsWellDefined": "ENSP00000481554.1:p.Arg216_Ile894delinsTyrLeuIleAspCysGluValGluArgIleAsnThrIleLeuGluGlnValValIleLeuGlyLysHisSerArgGlyTyrHisTyrMetLeuAlaAsnLeuGlyPheThrAspIleLeuLeuGluArgValMetHisGlyGlyAlaAsnIleThrGlyPheGlnIleValAsnAsnGluAsnProMetValGlnGlnPheIleGlnArgTrpValArgLeuAspGluArgGluPheProGluAlaLysAsnAlaProLeuLysTyrThrSerAlaLeuThrHisAspAlaIleLeuValIleAlaGluAlaPheArgTyrLeuArgArgGlnArgValAspValSerArgArgGlySerAlaGlyAspCysLeuAlaAsnProAlaValProTrpSerGlnGlyIleAspIleGluArgAlaLeuLysMetValGlnValGlnGlyMetThrGlyAsnIleGlnPheAspThrTyrGlyArgArgThrAsnTyrThrIleAspValTyrGluMetLysValSerGlySerArgLysAlaGlyTyrTrpAsnGluTyrGluArgPheValProPheSerAspGlnGlnIleSerAsnAspSerAlaSerSerGluAsnArgThrIleValValThrThrIleLeuGluSerProTyrValMetTyrLysLysAsnHisGluGlnLeuGluGlyAsnGluArgTyrGluGlyTyrCysValAspLeuAlaTyrGluIleAlaLysHisValArgIleLysTyrLysLeuSerIleValGlyAspGlyLysTyrGlyAlaArgAspProGluThrLysIleTrpAsnGlyMetValGlyGluLeuValTyrGlyArgAlaAspIleAlaValAlaProLeuThrIleThrLeuValArgGluGluValIleAspPheSerLysProPheMetSerLeuGlyIleSerIleMetIleLysLysProGlnLysSerLysProGlyValPheSerPheLeuAspProLeuAlaTyrGluIleTrpMetCysIleValPheAlaTyrIleGlyValSerValValLeuPheLeuValSerArgPheSerProTyrGluTrpHisLeuGluAspAsnAsnGluGluProArgAspProGlnSerProProAspProProAsnGluPheGlyIlePheAsnSerLeuTrpPheSerLeuGlyAlaPheMetGlnGlnGlyCysAspIleSerProArgSerLeuSerGlyArgIleValGlyGlyValTrpTrpPhePheThrLeuIleIleIleSerSerTyrThrAlaAsnLeuAlaAlaPheLeuThrValGluArgMetValSerProIleGluSerAlaGluAspLeuAlaLysGlnThrGluIleAlaTyrGlyThrLeuAspSerGlySerThrLysGluPhePheArgArgSerLysIleAlaValTyrGluLysMetTrpSerTyrMetLysSerAlaGluProSerValPheThrLysThrThrAlaAspGlyValAlaArgValArgLysSerLysGlyLysPheAlaPheLeuLeuGluSerThrMetAsnGluTyrIleGluGlnArgLysProCysAspThrMetLysValGlyGlyAsnLeuAspSerLysGlyTyrGlyValAlaThrProLysGlySerAlaLeuArgAsnAlaValAsnLeuAlaValLeuLysLeuAsnGluGlnGlyLeuLeuAspLysLeuLysAsnLysTrpTrpTyrAspLysGlyGluCysGlySerGlyGlyGlyAspSerLysAspLysThrSerAlaLeuSerLeuSerAsnValAlaGlyValPheTyrIleLeuValGlyGlyLeuGlyLeuAlaMetMetValAlaLeuIleGluPheCysTyrLysSerArgAlaGluSerLysArgMetLysLeuThrLysAsnThrGlnAsnPheLysProAlaProAlaThrAsnThrGlnAsnTyrAlaThrTyrArgGluGlyTyrAsnValTyrGlyThrGluSerValLysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762382",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000622768.5:c.646C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000828.5:c.646C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000481554.1:p.Arg216Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000819.4:p.Arg216Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 699,
          "referenceAllele": "C",
          "start": 698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004573",
      "geneNCBI_id": 2892,
      "geneSymbol": "GRIA3",
      "hgvs": [
        "ENST00000541091.5:c.646C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446440.2:p.Arg216Ter",
        "hgvsWellDefined": "ENSP00000446440.2:p.Arg216_Ile894delinsTyrLeuIleAspCysGluValGluArgIleAsnThrIleLeuGluGlnValValIleLeuGlyLysHisSerArgGlyTyrHisTyrMetLeuAlaAsnLeuGlyPheThrAspIleLeuLeuGluArgValMetHisGlyGlyAlaAsnIleThrGlyPheGlnIleValAsnAsnGluAsnProMetValGlnGlnPheIleGlnArgTrpValArgLeuAspGluArgGluPheProGluAlaLysAsnAlaProLeuLysTyrThrSerAlaLeuThrHisAspAlaIleLeuValIleAlaGluAlaPheArgTyrLeuArgArgGlnArgValAspValSerArgArgGlySerAlaGlyAspCysLeuAlaAsnProAlaValProTrpSerGlnGlyIleAspIleGluArgAlaLeuLysMetValGlnValGlnGlyMetThrGlyAsnIleGlnPheAspThrTyrGlyArgArgThrAsnTyrThrIleAspValTyrGluMetLysValSerGlySerArgLysAlaGlyTyrTrpAsnGluTyrGluArgPheValProPheSerAspGlnGlnIleSerAsnAspSerAlaSerSerGluAsnArgThrIleValValThrThrIleLeuGluSerProTyrValMetTyrLysLysAsnHisGluGlnLeuGluGlyAsnGluArgTyrGluGlyTyrCysValAspLeuAlaTyrGluIleAlaLysHisValArgIleLysTyrLysLeuSerIleValGlyAspGlyLysTyrGlyAlaArgAspProGluThrLysIleTrpAsnGlyMetValGlyGluLeuValTyrGlyArgAlaAspIleAlaValAlaProLeuThrIleThrLeuValArgGluGluValIleAspPheSerLysProPheMetSerLeuGlyIleSerIleMetIleLysLysProGlnLysSerLysProGlyValPheSerPheLeuAspProLeuAlaTyrGluIleTrpMetCysIleValPheAlaTyrIleGlyValSerValValLeuPheLeuValSerArgPheSerProTyrGluTrpHisLeuGluAspAsnAsnGluGluProArgAspProGlnSerProProAspProProAsnGluPheGlyIlePheAsnSerLeuTrpPheSerLeuGlyAlaPheMetGlnGlnGlyCysAspIleSerProArgSerLeuSerGlyArgIleValGlyGlyValTrpTrpPhePheThrLeuIleIleIleSerSerTyrThrAlaAsnLeuAlaAlaPheLeuThrValGluArgMetValSerProIleGluSerAlaGluAspLeuAlaLysGlnThrGluIleAlaTyrGlyThrLeuAspSerGlySerThrLysGluPhePheArgArgSerLysIleAlaValTyrGluLysMetTrpSerTyrMetLysSerAlaGluProSerValPheThrLysThrThrAlaAspGlyValAlaArgValArgLysSerLysGlyLysPheAlaPheLeuLeuGluSerThrMetAsnGluTyrIleGluGlnArgLysProCysAspThrMetLysValGlyGlyAsnLeuAspSerLysGlyTyrGlyValAlaThrProLysGlySerAlaLeuArgAsnAlaValAsnLeuAlaValLeuLysLeuAsnGluGlnGlyLeuLeuAspLysLeuLysAsnLysTrpTrpTyrAspLysGlyGluCysGlySerGlyGlyGlyAspSerLysAspLysThrSerAlaLeuSerLeuSerAsnValAlaGlyValPheTyrIleLeuValGlyGlyLeuGlyLeuAlaMetMetValAlaLeuIleGluPheCysTyrLysSerArgAlaGluSerLysArgMetLysLeuThrLysAsnThrGlnAsnPheLysProAlaProAlaThrAsnThrGlnAsnTyrAlaThrTyrArgGluGlyTyrAsnValTyrGlyThrGluSerValLysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362757"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 699,
          "referenceAllele": "C",
          "start": 698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004573",
      "geneNCBI_id": 2892,
      "geneSymbol": "GRIA3",
      "hgvs": [
        "ENST00000620443.1:c.646C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478489.1:p.Arg216Ter",
        "hgvsWellDefined": "ENSP00000478489.1:p.Arg216_Ile894delinsTyrLeuIleAspCysGluValGluArgIleAsnThrIleLeuGluGlnValValIleLeuGlyLysHisSerArgGlyTyrHisTyrMetLeuAlaAsnLeuGlyPheThrAspIleLeuLeuGluArgValMetHisGlyGlyAlaAsnIleThrGlyPheGlnIleValAsnAsnGluAsnProMetValGlnGlnPheIleGlnArgTrpValArgLeuAspGluArgGluPheProGluAlaLysAsnAlaProLeuLysTyrThrSerAlaLeuThrHisAspAlaIleLeuValIleAlaGluAlaPheArgTyrLeuArgArgGlnArgValAspValSerArgArgGlySerAlaGlyAspCysLeuAlaAsnProAlaValProTrpSerGlnGlyIleAspIleGluArgAlaLeuLysMetValGlnValGlnGlyMetThrGlyAsnIleGlnPheAspThrTyrGlyArgArgThrAsnTyrThrIleAspValTyrGluMetLysValSerGlySerArgLysAlaGlyTyrTrpAsnGluTyrGluArgPheValProPheSerAspGlnGlnIleSerAsnAspSerAlaSerSerGluAsnArgThrIleValValThrThrIleLeuGluSerProTyrValMetTyrLysLysAsnHisGluGlnLeuGluGlyAsnGluArgTyrGluGlyTyrCysValAspLeuAlaTyrGluIleAlaLysHisValArgIleLysTyrLysLeuSerIleValGlyAspGlyLysTyrGlyAlaArgAspProGluThrLysIleTrpAsnGlyMetValGlyGluLeuValTyrGlyArgAlaAspIleAlaValAlaProLeuThrIleThrLeuValArgGluGluValIleAspPheSerLysProPheMetSerLeuGlyIleSerIleMetIleLysLysProGlnLysSerLysProGlyValPheSerPheLeuAspProLeuAlaTyrGluIleTrpMetCysIleValPheAlaTyrIleGlyValSerValValLeuPheLeuValSerArgPheSerProTyrGluTrpHisLeuGluAspAsnAsnGluGluProArgAspProGlnSerProProAspProProAsnGluPheGlyIlePheAsnSerLeuTrpPheSerLeuGlyAlaPheMetGlnGlnGlyCysAspIleSerProArgSerLeuSerGlyArgIleValGlyGlyValTrpTrpPhePheThrLeuIleIleIleSerSerTyrThrAlaAsnLeuAlaAlaPheLeuThrValGluArgMetValSerProIleGluSerAlaGluAspLeuAlaLysGlnThrGluIleAlaTyrGlyThrLeuAspSerGlySerThrLysGluPhePheArgArgSerLysIleAlaValTyrGluLysMetTrpSerTyrMetLysSerAlaGluProSerValPheThrLysThrThrAlaAspGlyValAlaArgValArgLysSerLysGlyLysPheAlaPheLeuLeuGluSerThrMetAsnGluTyrIleGluGlnArgLysProCysAspThrMetLysValGlyGlyAsnLeuAspSerLysGlyTyrGlyValAlaThrProLysGlySerAlaLeuArgThrProValAsnLeuAlaValLeuLysLeuSerGluGlnGlyIleLeuAspLysLeuLysAsnLysTrpTrpTyrAspLysGlyGluCysGlyAlaLysAspSerGlySerLysAspLysThrSerAlaLeuSerLeuSerAsnValAlaGlyValPheTyrIleLeuValGlyGlyLeuGlyLeuAlaMetMetValAlaLeuIleGluPheCysTyrLysSerArgAlaGluSerLysArgMetLysLeuThrLysAsnThrGlnAsnPheLysProAlaProAlaThrAsnThrGlnAsnTyrAlaThrTyrArgGluGlyTyrAsnValTyrGlyThrGluSerValLysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404837"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 811,
          "referenceAllele": "C",
          "start": 810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004573",
      "geneNCBI_id": 2892,
      "geneSymbol": "GRIA3",
      "hgvs": [
        "ENST00000620581.4:c.646C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481875.1:p.Arg216Ter",
        "hgvsWellDefined": "ENSP00000481875.1:p.Arg216_Gln824delinsTyrLeuIleAspCysGluValGluArgIleAsnThrIleLeuGluGlnValValIleLeuGlyLysHisSerArgGlyTyrHisTyrMetLeuAlaAsnLeuGlyPheThrAspIleLeuLeuGluArgValMetHisGlyGlyAlaAsnIleThrGlyPheGlnIleValAsnAsnGluAsnProMetValGlnGlnPheIleGlnArgTrpValArgLeuAspGluArgGluPheProGluAlaLysAsnAlaProLeuLysTyrThrSerAlaLeuThrHisAspAlaIleLeuValIleAlaGluAlaPheArgTyrLeuArgArgGlnArgValAspValSerArgArgGlySerAlaGlyAspCysLeuAlaAsnProAlaValProTrpSerGlnGlyIleAspIleGluArgAlaLeuLysMetValGlnValGlnGlyMetThrGlyAsnIleGlnPheAspThrTyrGlyArgArgThrAsnTyrThrIleAspValTyrGluMetLysValSerGlySerArgLysAlaGlyTyrTrpAsnGluTyrGluArgPheValProPheSerAspGlnGlnIleSerAsnAspSerAlaSerSerGluAsnArgThrIleValValThrThrIleLeuGluSerProTyrValMetTyrLysLysAsnHisGluGlnLeuGluGlyAsnGluArgTyrGluGlyTyrCysValAspLeuAlaTyrGluIleAlaLysHisValArgIleLysTyrLysLeuSerIleValGlyAspGlyLysTyrGlyAlaArgAspProGluThrLysIleTrpAsnGlyMetValGlyGluLeuValTyrGlyArgAlaAspIleAlaValAlaProLeuThrIleThrLeuValArgGluGluValIleAspPheSerLysProPheMetSerLeuGlyIleSerIleMetIleLysLysProGlnLysSerLysProGlyValPheSerPheLeuAspProLeuAlaTyrGluIleTrpMetCysIleValPheAlaTyrIleGlyValSerValValLeuPheLeuValSerArgPheSerProTyrGluTrpHisLeuGluAspAsnAsnGluGluProArgAspProGlnSerProProAspProProAsnGluPheGlyIlePheAsnSerLeuTrpPheSerLeuGlyAlaPheMetGlnGlnGlyCysAspIleSerProArgSerLeuSerGlyArgIleValGlyGlyValTrpTrpPhePheThrLeuIleIleIleSerSerTyrThrAlaAsnLeuAlaAlaPheLeuThrValGluArgMetValSerProIleGluSerAlaGluAspLeuAlaLysGlnThrGluIleAlaTyrGlyThrLeuAspSerGlySerThrLysGluPhePheArgArgSerLysIleAlaValTyrGluLysMetTrpSerTyrMetLysSerAlaGluProSerValPheThrLysThrThrAlaAspGlyValAlaArgValArgLysSerLysGlyLysPheAlaPheLeuLeuGluSerThrMetAsnGluTyrIleGluGlnArgLysProCysAspThrMetLysValGlyGlyAsnLeuAspSerLysGlyTyrGlyValAlaThrProLysGlySerAlaLeuArgAsnAlaValAsnLeuAlaValLeuLysLeuAsnGluGlnGlyLeuLeuAspLysLeuLysAsnLysTrpTrpTyrAspLysGlyGluCysGlySerGlyGlyGlyAspSerLysAsnAlaCysLysProCysSerIleGluThrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404893"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 939,
          "referenceAllele": "C",
          "start": 938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004573",
      "geneNCBI_id": 2892,
      "geneSymbol": "GRIA3",
      "hgvs": [
        "ENST00000622768.4:c.646C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481554.1:p.Arg216Ter",
        "hgvsWellDefined": "ENSP00000481554.1:p.Arg216_Ile894delinsTyrLeuIleAspCysGluValGluArgIleAsnThrIleLeuGluGlnValValIleLeuGlyLysHisSerArgGlyTyrHisTyrMetLeuAlaAsnLeuGlyPheThrAspIleLeuLeuGluArgValMetHisGlyGlyAlaAsnIleThrGlyPheGlnIleValAsnAsnGluAsnProMetValGlnGlnPheIleGlnArgTrpValArgLeuAspGluArgGluPheProGluAlaLysAsnAlaProLeuLysTyrThrSerAlaLeuThrHisAspAlaIleLeuValIleAlaGluAlaPheArgTyrLeuArgArgGlnArgValAspValSerArgArgGlySerAlaGlyAspCysLeuAlaAsnProAlaValProTrpSerGlnGlyIleAspIleGluArgAlaLeuLysMetValGlnValGlnGlyMetThrGlyAsnIleGlnPheAspThrTyrGlyArgArgThrAsnTyrThrIleAspValTyrGluMetLysValSerGlySerArgLysAlaGlyTyrTrpAsnGluTyrGluArgPheValProPheSerAspGlnGlnIleSerAsnAspSerAlaSerSerGluAsnArgThrIleValValThrThrIleLeuGluSerProTyrValMetTyrLysLysAsnHisGluGlnLeuGluGlyAsnGluArgTyrGluGlyTyrCysValAspLeuAlaTyrGluIleAlaLysHisValArgIleLysTyrLysLeuSerIleValGlyAspGlyLysTyrGlyAlaArgAspProGluThrLysIleTrpAsnGlyMetValGlyGluLeuValTyrGlyArgAlaAspIleAlaValAlaProLeuThrIleThrLeuValArgGluGluValIleAspPheSerLysProPheMetSerLeuGlyIleSerIleMetIleLysLysProGlnLysSerLysProGlyValPheSerPheLeuAspProLeuAlaTyrGluIleTrpMetCysIleValPheAlaTyrIleGlyValSerValValLeuPheLeuValSerArgPheSerProTyrGluTrpHisLeuGluAspAsnAsnGluGluProArgAspProGlnSerProProAspProProAsnGluPheGlyIlePheAsnSerLeuTrpPheSerLeuGlyAlaPheMetGlnGlnGlyCysAspIleSerProArgSerLeuSerGlyArgIleValGlyGlyValTrpTrpPhePheThrLeuIleIleIleSerSerTyrThrAlaAsnLeuAlaAlaPheLeuThrValGluArgMetValSerProIleGluSerAlaGluAspLeuAlaLysGlnThrGluIleAlaTyrGlyThrLeuAspSerGlySerThrLysGluPhePheArgArgSerLysIleAlaValTyrGluLysMetTrpSerTyrMetLysSerAlaGluProSerValPheThrLysThrThrAlaAspGlyValAlaArgValArgLysSerLysGlyLysPheAlaPheLeuLeuGluSerThrMetAsnGluTyrIleGluGlnArgLysProCysAspThrMetLysValGlyGlyAsnLeuAspSerLysGlyTyrGlyValAlaThrProLysGlySerAlaLeuArgAsnAlaValAsnLeuAlaValLeuLysLeuAsnGluGlnGlyLeuLeuAspLysLeuLysAsnLysTrpTrpTyrAspLysGlyGluCysGlySerGlyGlyGlyAspSerLysAspLysThrSerAlaLeuSerLeuSerAsnValAlaGlyValPheTyrIleLeuValGlyGlyLeuGlyLeuAlaMetMetValAlaLeuIleGluPheCysTyrLysSerArgAlaGluSerLysArgMetLysLeuThrLysAsnThrGlnAsnPheLysProAlaProAlaThrAsnThrGlnAsnTyrAlaThrTyrArgGluGlyTyrAsnValTyrGlyThrGluSerValLysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405876"
    },
    {
      "@id": "http://reg.genome.network/allele/PA202722",
      "coordinates": [
        {
          "allele": "T",
          "end": 939,
          "referenceAllele": "C",
          "start": 938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004573",
      "geneNCBI_id": 2892,
      "geneSymbol": "GRIA3",
      "hgvs": [
        "NM_000828.4:c.646C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000819.3:p.Arg216Ter",
        "hgvsWellDefined": "NP_000819.3:p.Arg216_Ile894delinsTyrLeuIleAspCysGluValGluArgIleAsnThrIleLeuGluGlnValValIleLeuGlyLysHisSerArgGlyTyrHisTyrMetLeuAlaAsnLeuGlyPheThrAspIleLeuLeuGluArgValMetHisGlyGlyAlaAsnIleThrGlyPheGlnIleValAsnAsnGluAsnProMetValGlnGlnPheIleGlnArgTrpValArgLeuAspGluArgGluPheProGluAlaLysAsnAlaProLeuLysTyrThrSerAlaLeuThrHisAspAlaIleLeuValIleAlaGluAlaPheArgTyrLeuArgArgGlnArgValAspValSerArgArgGlySerAlaGlyAspCysLeuAlaAsnProAlaValProTrpSerGlnGlyIleAspIleGluArgAlaLeuLysMetValGlnValGlnGlyMetThrGlyAsnIleGlnPheAspThrTyrGlyArgArgThrAsnTyrThrIleAspValTyrGluMetLysValSerGlySerArgLysAlaGlyTyrTrpAsnGluTyrGluArgPheValProPheSerAspGlnGlnIleSerAsnAspSerAlaSerSerGluAsnArgThrIleValValThrThrIleLeuGluSerProTyrValMetTyrLysLysAsnHisGluGlnLeuGluGlyAsnGluArgTyrGluGlyTyrCysValAspLeuAlaTyrGluIleAlaLysHisValArgIleLysTyrLysLeuSerIleValGlyAspGlyLysTyrGlyAlaArgAspProGluThrLysIleTrpAsnGlyMetValGlyGluLeuValTyrGlyArgAlaAspIleAlaValAlaProLeuThrIleThrLeuValArgGluGluValIleAspPheSerLysProPheMetSerLeuGlyIleSerIleMetIleLysLysProGlnLysSerLysProGlyValPheSerPheLeuAspProLeuAlaTyrGluIleTrpMetCysIleValPheAlaTyrIleGlyValSerValValLeuPheLeuValSerArgPheSerProTyrGluTrpHisLeuGluAspAsnAsnGluGluProArgAspProGlnSerProProAspProProAsnGluPheGlyIlePheAsnSerLeuTrpPheSerLeuGlyAlaPheMetGlnGlnGlyCysAspIleSerProArgSerLeuSerGlyArgIleValGlyGlyValTrpTrpPhePheThrLeuIleIleIleSerSerTyrThrAlaAsnLeuAlaAlaPheLeuThrValGluArgMetValSerProIleGluSerAlaGluAspLeuAlaLysGlnThrGluIleAlaTyrGlyThrLeuAspSerGlySerThrLysGluPhePheArgArgSerLysIleAlaValTyrGluLysMetTrpSerTyrMetLysSerAlaGluProSerValPheThrLysThrThrAlaAspGlyValAlaArgValArgLysSerLysGlyLysPheAlaPheLeuLeuGluSerThrMetAsnGluTyrIleGluGlnArgLysProCysAspThrMetLysValGlyGlyAsnLeuAspSerLysGlyTyrGlyValAlaThrProLysGlySerAlaLeuGlyAsnAlaValAsnLeuAlaValLeuLysLeuAsnGluGlnGlyLeuLeuAspLysLeuLysAsnLysTrpTrpTyrAspLysGlyGluCysGlySerGlyGlyGlyAspSerLysAspLysThrSerAlaLeuSerLeuSerAsnValAlaGlyValPheTyrIleLeuValGlyGlyLeuGlyLeuAlaMetMetValAlaLeuIleGluPheCysTyrLysSerArgAlaGluSerLysArgMetLysLeuThrLysAsnThrGlnAsnPheLysProAlaProAlaThrAsnThrGlnAsnTyrAlaThrTyrArgGluGlyTyrAsnValTyrGlyThrGluSerValLysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006857"
    },
    {
      "@id": "http://reg.genome.network/allele/PA202723",
      "coordinates": [
        {
          "allele": "T",
          "end": 939,
          "referenceAllele": "C",
          "start": 938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004573",
      "geneNCBI_id": 2892,
      "geneSymbol": "GRIA3",
      "hgvs": [
        "NM_007325.4:c.646C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_015564.4:p.Arg216Ter",
        "hgvsWellDefined": "NP_015564.4:p.Arg216_Ile894delinsTyrLeuIleAspCysGluValGluArgIleAsnThrIleLeuGluGlnValValIleLeuGlyLysHisSerArgGlyTyrHisTyrMetLeuAlaAsnLeuGlyPheThrAspIleLeuLeuGluArgValMetHisGlyGlyAlaAsnIleThrGlyPheGlnIleValAsnAsnGluAsnProMetValGlnGlnPheIleGlnArgTrpValArgLeuAspGluArgGluPheProGluAlaLysAsnAlaProLeuLysTyrThrSerAlaLeuThrHisAspAlaIleLeuValIleAlaGluAlaPheArgTyrLeuArgArgGlnArgValAspValSerArgArgGlySerAlaGlyAspCysLeuAlaAsnProAlaValProTrpSerGlnGlyIleAspIleGluArgAlaLeuLysMetValGlnValGlnGlyMetThrGlyAsnIleGlnPheAspThrTyrGlyArgArgThrAsnTyrThrIleAspValTyrGluMetLysValSerGlySerArgLysAlaGlyTyrTrpAsnGluTyrGluArgPheValProPheSerAspGlnGlnIleSerAsnAspSerAlaSerSerGluAsnArgThrIleValValThrThrIleLeuGluSerProTyrValMetTyrLysLysAsnHisGluGlnLeuGluGlyAsnGluArgTyrGluGlyTyrCysValAspLeuAlaTyrGluIleAlaLysHisValArgIleLysTyrLysLeuSerIleValGlyAspGlyLysTyrGlyAlaArgAspProGluThrLysIleTrpAsnGlyMetValGlyGluLeuValTyrGlyArgAlaAspIleAlaValAlaProLeuThrIleThrLeuValArgGluGluValIleAspPheSerLysProPheMetSerLeuGlyIleSerIleMetIleLysLysProGlnLysSerLysProGlyValPheSerPheLeuAspProLeuAlaTyrGluIleTrpMetCysIleValPheAlaTyrIleGlyValSerValValLeuPheLeuValSerArgPheSerProTyrGluTrpHisLeuGluAspAsnAsnGluGluProArgAspProGlnSerProProAspProProAsnGluPheGlyIlePheAsnSerLeuTrpPheSerLeuGlyAlaPheMetGlnGlnGlyCysAspIleSerProArgSerLeuSerGlyArgIleValGlyGlyValTrpTrpPhePheThrLeuIleIleIleSerSerTyrThrAlaAsnLeuAlaAlaPheLeuThrValGluArgMetValSerProIleGluSerAlaGluAspLeuAlaLysGlnThrGluIleAlaTyrGlyThrLeuAspSerGlySerThrLysGluPhePheArgArgSerLysIleAlaValTyrGluLysMetTrpSerTyrMetLysSerAlaGluProSerValPheThrLysThrThrAlaAspGlyValAlaArgValArgLysSerLysGlyLysPheAlaPheLeuLeuGluSerThrMetAsnGluTyrIleGluGlnArgLysProCysAspThrMetLysValGlyGlyAsnLeuAspSerLysGlyTyrGlyValAlaThrProLysGlySerAlaLeuGlyThrProValAsnLeuAlaValLeuLysLeuSerGluGlnGlyIleLeuAspLysLeuLysAsnLysTrpTrpTyrAspLysGlyGluCysGlyAlaLysAspSerGlySerLysAspLysThrSerAlaLeuSerLeuSerAsnValAlaGlyValPheTyrIleLeuValGlyGlyLeuGlyLeuAlaMetMetValAlaLeuIleGluPheCysTyrLysSerArgAlaGluSerLysArgMetLysLeuThrLysAsnThrGlnAsnPheLysProAlaProAlaThrAsnThrGlnAsnTyrAlaThrTyrArgGluGlyTyrAsnValTyrGlyThrGluSerValLysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032228"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916000853",
      "coordinates": [
        {
          "allele": "T",
          "end": 904,
          "referenceAllele": "C",
          "start": 903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004573",
      "geneNCBI_id": 2892,
      "geneSymbol": "GRIA3",
      "hgvs": [
        "NM_007325.5:c.646C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_015564.5:p.Arg216Ter",
        "hgvsWellDefined": "NP_015564.5:p.Arg216_Ile894delinsTyrLeuIleAspCysGluValGluArgIleAsnThrIleLeuGluGlnValValIleLeuGlyLysHisSerArgGlyTyrHisTyrMetLeuAlaAsnLeuGlyPheThrAspIleLeuLeuGluArgValMetHisGlyGlyAlaAsnIleThrGlyPheGlnIleValAsnAsnGluAsnProMetValGlnGlnPheIleGlnArgTrpValArgLeuAspGluArgGluPheProGluAlaLysAsnAlaProLeuLysTyrThrSerAlaLeuThrHisAspAlaIleLeuValIleAlaGluAlaPheArgTyrLeuArgArgGlnArgValAspValSerArgArgGlySerAlaGlyAspCysLeuAlaAsnProAlaValProTrpSerGlnGlyIleAspIleGluArgAlaLeuLysMetValGlnValGlnGlyMetThrGlyAsnIleGlnPheAspThrTyrGlyArgArgThrAsnTyrThrIleAspValTyrGluMetLysValSerGlySerArgLysAlaGlyTyrTrpAsnGluTyrGluArgPheValProPheSerAspGlnGlnIleSerAsnAspSerAlaSerSerGluAsnArgThrIleValValThrThrIleLeuGluSerProTyrValMetTyrLysLysAsnHisGluGlnLeuGluGlyAsnGluArgTyrGluGlyTyrCysValAspLeuAlaTyrGluIleAlaLysHisValArgIleLysTyrLysLeuSerIleValGlyAspGlyLysTyrGlyAlaArgAspProGluThrLysIleTrpAsnGlyMetValGlyGluLeuValTyrGlyArgAlaAspIleAlaValAlaProLeuThrIleThrLeuValArgGluGluValIleAspPheSerLysProPheMetSerLeuGlyIleSerIleMetIleLysLysProGlnLysSerLysProGlyValPheSerPheLeuAspProLeuAlaTyrGluIleTrpMetCysIleValPheAlaTyrIleGlyValSerValValLeuPheLeuValSerArgPheSerProTyrGluTrpHisLeuGluAspAsnAsnGluGluProArgAspProGlnSerProProAspProProAsnGluPheGlyIlePheAsnSerLeuTrpPheSerLeuGlyAlaPheMetGlnGlnGlyCysAspIleSerProArgSerLeuSerGlyArgIleValGlyGlyValTrpTrpPhePheThrLeuIleIleIleSerSerTyrThrAlaAsnLeuAlaAlaPheLeuThrValGluArgMetValSerProIleGluSerAlaGluAspLeuAlaLysGlnThrGluIleAlaTyrGlyThrLeuAspSerGlySerThrLysGluPhePheArgArgSerLysIleAlaValTyrGluLysMetTrpSerTyrMetLysSerAlaGluProSerValPheThrLysThrThrAlaAspGlyValAlaArgValArgLysSerLysGlyLysPheAlaPheLeuLeuGluSerThrMetAsnGluTyrIleGluGlnArgLysProCysAspThrMetLysValGlyGlyAsnLeuAspSerLysGlyTyrGlyValAlaThrProLysGlySerAlaLeuArgThrProValAsnLeuAlaValLeuLysLeuSerGluGlnGlyIleLeuAspLysLeuLysAsnLysTrpTrpTyrAspLysGlyGluCysGlyAlaLysAspSerGlySerLysAspLysThrSerAlaLeuSerLeuSerAsnValAlaGlyValPheTyrIleLeuValGlyGlyLeuGlyLeuAlaMetMetValAlaLeuIleGluPheCysTyrLysSerArgAlaGluSerLysArgMetLysLeuThrLysAsnThrGlnAsnPheLysProAlaProAlaThrAsnThrGlnAsnTyrAlaThrTyrArgGluGlyTyrAsnValTyrGlyThrGluSerValLysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696972",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000620443.2:c.646C>T"
          },
          "RefSeq": {
            "hgvs": "NM_007325.5:c.646C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000478489.1:p.Arg216Ter"
          },
          "RefSeq": {
            "hgvs": "NP_015564.5:p.Arg216Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825230562",
      "coordinates": [
        {
          "allele": "T",
          "end": 904,
          "referenceAllele": "C",
          "start": 903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004573",
      "geneNCBI_id": 2892,
      "geneSymbol": "GRIA3",
      "hgvs": [
        "NM_000828.5:c.646C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000819.4:p.Arg216Ter",
        "hgvsWellDefined": "NP_000819.4:p.Arg216_Ile894delinsTyrLeuIleAspCysGluValGluArgIleAsnThrIleLeuGluGlnValValIleLeuGlyLysHisSerArgGlyTyrHisTyrMetLeuAlaAsnLeuGlyPheThrAspIleLeuLeuGluArgValMetHisGlyGlyAlaAsnIleThrGlyPheGlnIleValAsnAsnGluAsnProMetValGlnGlnPheIleGlnArgTrpValArgLeuAspGluArgGluPheProGluAlaLysAsnAlaProLeuLysTyrThrSerAlaLeuThrHisAspAlaIleLeuValIleAlaGluAlaPheArgTyrLeuArgArgGlnArgValAspValSerArgArgGlySerAlaGlyAspCysLeuAlaAsnProAlaValProTrpSerGlnGlyIleAspIleGluArgAlaLeuLysMetValGlnValGlnGlyMetThrGlyAsnIleGlnPheAspThrTyrGlyArgArgThrAsnTyrThrIleAspValTyrGluMetLysValSerGlySerArgLysAlaGlyTyrTrpAsnGluTyrGluArgPheValProPheSerAspGlnGlnIleSerAsnAspSerAlaSerSerGluAsnArgThrIleValValThrThrIleLeuGluSerProTyrValMetTyrLysLysAsnHisGluGlnLeuGluGlyAsnGluArgTyrGluGlyTyrCysValAspLeuAlaTyrGluIleAlaLysHisValArgIleLysTyrLysLeuSerIleValGlyAspGlyLysTyrGlyAlaArgAspProGluThrLysIleTrpAsnGlyMetValGlyGluLeuValTyrGlyArgAlaAspIleAlaValAlaProLeuThrIleThrLeuValArgGluGluValIleAspPheSerLysProPheMetSerLeuGlyIleSerIleMetIleLysLysProGlnLysSerLysProGlyValPheSerPheLeuAspProLeuAlaTyrGluIleTrpMetCysIleValPheAlaTyrIleGlyValSerValValLeuPheLeuValSerArgPheSerProTyrGluTrpHisLeuGluAspAsnAsnGluGluProArgAspProGlnSerProProAspProProAsnGluPheGlyIlePheAsnSerLeuTrpPheSerLeuGlyAlaPheMetGlnGlnGlyCysAspIleSerProArgSerLeuSerGlyArgIleValGlyGlyValTrpTrpPhePheThrLeuIleIleIleSerSerTyrThrAlaAsnLeuAlaAlaPheLeuThrValGluArgMetValSerProIleGluSerAlaGluAspLeuAlaLysGlnThrGluIleAlaTyrGlyThrLeuAspSerGlySerThrLysGluPhePheArgArgSerLysIleAlaValTyrGluLysMetTrpSerTyrMetLysSerAlaGluProSerValPheThrLysThrThrAlaAspGlyValAlaArgValArgLysSerLysGlyLysPheAlaPheLeuLeuGluSerThrMetAsnGluTyrIleGluGlnArgLysProCysAspThrMetLysValGlyGlyAsnLeuAspSerLysGlyTyrGlyValAlaThrProLysGlySerAlaLeuArgAsnAlaValAsnLeuAlaValLeuLysLeuAsnGluGlnGlyLeuLeuAspLysLeuLysAsnLysTrpTrpTyrAspLysGlyGluCysGlySerGlyGlyGlyAspSerLysAspLysThrSerAlaLeuSerLeuSerAsnValAlaGlyValPheTyrIleLeuValGlyGlyLeuGlyLeuAlaMetMetValAlaLeuIleGluPheCysTyrLysSerArgAlaGluSerLysArgMetLysLeuThrLysAsnThrGlnAsnPheLysProAlaProAlaThrAsnThrGlnAsnTyrAlaThrTyrArgGluGlyTyrAsnValTyrGlyThrGluSerValLysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710877",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000622768.5:c.646C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000828.5:c.646C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000481554.1:p.Arg216Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000819.4:p.Arg216Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}