{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA356158278",
  "communityStandardTitle": [
    "NM_153717.3(EVC):c.248C>G (p.Ser83Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3107819[alleleid]",
        "alleleId": 3107819,
        "preferredName": "NM_153717.3(EVC):c.248C>G (p.Ser83Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2944862",
        "RCV": [
          "RCV003808564"
        ],
        "variationId": 2944862
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.5721048C>G?assembly=hg19",
        "id": "chr4:g.5721048C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.5719321C>G?assembly=hg38",
        "id": "chr4:g.5719321C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/886059495",
        "rs": 886059495
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-5719321-C-G?dataset=gnomad_r4",
        "id": "4-5719321-C-G",
        "variant": "4:5719321 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 5719321,
          "referenceAllele": "C",
          "start": 5719320
        }
      ],
      "hgvs": [
        "NC_000004.12:g.5719321C>G",
        "CM000666.2:g.5719321C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 5721048,
          "referenceAllele": "C",
          "start": 5721047
        }
      ],
      "hgvs": [
        "NC_000004.11:g.5721048C>G",
        "CM000666.1:g.5721048C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 5771949,
          "referenceAllele": "C",
          "start": 5771948
        }
      ],
      "hgvs": [
        "NC_000004.10:g.5771949C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13125,
          "referenceAllele": "C",
          "start": 13124
        }
      ],
      "hgvs": [
        "NG_008843.1:g.13125C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001238"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 428,
          "referenceAllele": "C",
          "start": 427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "ENST00000264956.11:c.248C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264956.6:p.Ser83Ter",
        "hgvsWellDefined": "ENSP00000264956.6:p.Ser83_Leu992delinsArgArgArgLysArgGluValGlnMetSerLysAspLysGluAlaValAspGluCysGluProProSerAsnSerAsnIleThrAlaPheAlaLeuLysAlaLysValIleTyrProIleAsnGlnLysPheArgProLeuAlaAspGlySerSerAsnProSerLeuHisGluAsnLeuLysGlnAlaValLeuProHisGlnProValGluAlaSerProSerSerSerLeuGlySerLeuSerGlnGlyGluLysAspAspCysSerSerSerSerSerValHisSerAlaThrSerAspAspArgPheLeuSerArgThrPheLeuArgValAsnAlaPheProGluValLeuAlaCysGluSerValAspValAspLeuCysIleTyrSerLeuHisLeuLysAspLeuLeuHisLeuAspThrAlaLeuArgGlnGluLysHisMetMetPheIleGlnIlePheLysMetCysLeuLeuAspLeuLeuProLysLysLysSerAspAspGluLeuTyrGlnLysIleLeuSerLysGlnGluLysAspLeuGluGluLeuGluLysGlyLeuGlnValLysLeuSerAsnThrGluMetSerGlyAlaGlyAspSerGluTyrIleThrLeuAlaAspValGluLysLysGluArgGluTyrSerGluGlnLeuIleAspAsnMetGluAlaPheTrpLysGlnMetAlaAsnIleGlnHisPheLeuValAspGlnPheLysCysSerSerSerLysAlaArgGlnLeuMetMetThrLeuThrGluArgMetIleAlaAlaGluGlyLeuLeuCysAspSerGlnGluLeuGlnAlaLeuAspAlaLeuGluArgThrMetGlyArgAlaHisMetAlaLysValIleGluPheLeuLysLeuGlnValGlnGluGluThrArgCysArgLeuAlaAlaIleSerHisGlyLeuGluLeuLeuAlaGlyGluGlyLysLeuSerGlyArgGlnLysGluGluLeuLeuThrGlnGlnHisLysAlaPheTrpGlnGluAlaGluArgPheSerArgGluPheValGlnArgGlyLysAspLeuValThrAlaSerLeuAlaHisGlnValGluGlyThrAlaLysLeuThrLeuAlaGlnGluGluGluGlnArgSerPheLeuAlaGluAlaGlnProThrAlaAspProGluLysPheLeuGluAlaPheHisGluValLeuGluArgGlnArgLeuMetGlnCysAspLeuGluGluGluGluAsnValArgAlaThrGluAlaValValAlaLeuCysGlnGluLeuTyrPheSerThrValAspThrPheGlnLysPheValAspAlaLeuPheLeuGlnThrLeuProGlyMetThrGlyLeuProProGluGluCysAspTyrLeuArgGlnGluValGlnGluAsnAlaAlaTrpGlnLeuGlyLysSerAsnArgPheArgArgGlnGlnTrpLysLeuPheGlnGluLeuLeuGluGlnAspGlnGlnValTrpMetGluGluCysAlaLeuSerSerValLeuGlnThrHisLeuArgGluAspHisGluGlyThrIleArgGlyValLeuGlyArgLeuGlyGlyLeuThrGluGluSerThrArgCysValLeuGlnGlyHisAspLeuLeuLeuArgSerAlaLeuArgArgLeuAlaLeuArgGlyAsnAlaLeuAlaThrLeuThrGlnMetArgLeuSerGlyLysLysHisLeuLeuGlnGluLeuArgGluGlnArgAlaLeuGluGlnGlySerSerGlnCysLeuAspGluHisGlnTrpGlnLeuLeuArgAlaLeuGluAlaArgValLeuGluGluAlaSerArgLeuGluGluGluAlaGlnGlnThrArgLeuGlnLeuGlnGlnArgLeuLeuAlaGluAlaGlnGluValGlyGlnLeuLeuGlnGlnHisMetGluCysAlaIleGlyGlnAlaLeuLeuValHisAlaArgAsnAlaAlaThrLysSerArgAlaLysAspArgAspAspPheLysArgThrLeuMetGluAlaAlaValGluSerValTyrValThrSerAlaGlyValSerArgLeuValGlnAlaTyrTyrGlnGlnIleGlyArgIleMetGluAspHisGluGluArgLysLeuGlnHisLeuLysThrLeuGlnGlyGluArgMetGluAsnTyrLysLeuArgLysLysGlnGluLeuSerAsnProSerSerGlySerArgThrAlaGlyGlyAlaHisGluThrSerGlnAlaValHisGlnArgMetLeuSerGlnGlnLysArgPheLeuAlaGlnPheProValHisGlnGlnMetArgLeuHisAlaGlnGlnGlnGlnAlaGlyValMetAspLeuLeuGluAlaGlnLeuGluThrGlnLeuGlnGluAlaGluGlnAsnPheIleSerGluLeuAlaAlaLeuAlaArgValProLeuAlaGluSerLysLeuLeuProAlaLysArgGlyLeuLeuGluLysProLeuArgThrLysArgLysLysProLeuProGlnGluArgGlyAspLeuGlyValProAsnAsnGluAspLeuAlaSerGlyAspGlnThrSerGlySerLeuSerSerLysArgLeuSerGlnGlnGluSerGluAlaGlyAspSerGlyAsnSerLysLysMetLeuLysArgArgSerAsnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742754",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264956.11:c.248C>G"
          },
          "RefSeq": {
            "hgvs": "NM_153717.3:c.248C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264956.6:p.Ser83Ter"
          },
          "RefSeq": {
            "hgvs": "NP_714928.1:p.Ser83Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 432,
          "referenceAllele": "C",
          "start": 431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "ENST00000264956.10:c.248C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264956.6:p.Ser83Ter",
        "hgvsWellDefined": "ENSP00000264956.6:p.Ser83_Leu992delinsArgArgArgLysArgGluValGlnMetSerLysAspLysGluAlaValAspGluCysGluProProSerAsnSerAsnIleThrAlaPheAlaLeuLysAlaLysValIleTyrProIleAsnGlnLysPheArgProLeuAlaAspGlySerSerAsnProSerLeuHisGluAsnLeuLysGlnAlaValLeuProHisGlnProValGluAlaSerProSerSerSerLeuGlySerLeuSerGlnGlyGluLysAspAspCysSerSerSerSerSerValHisSerAlaThrSerAspAspArgPheLeuSerArgThrPheLeuArgValAsnAlaPheProGluValLeuAlaCysGluSerValAspValAspLeuCysIleTyrSerLeuHisLeuLysAspLeuLeuHisLeuAspThrAlaLeuArgGlnGluLysHisMetMetPheIleGlnIlePheLysMetCysLeuLeuAspLeuLeuProLysLysLysSerAspAspGluLeuTyrGlnLysIleLeuSerLysGlnGluLysAspLeuGluGluLeuGluLysGlyLeuGlnValLysLeuSerAsnThrGluMetSerGlyAlaGlyAspSerGluTyrIleThrLeuAlaAspValGluLysLysGluArgGluTyrSerGluGlnLeuIleAspAsnMetGluAlaPheTrpLysGlnMetAlaAsnIleGlnHisPheLeuValAspGlnPheLysCysSerSerSerLysAlaArgGlnLeuMetMetThrLeuThrGluArgMetIleAlaAlaGluGlyLeuLeuCysAspSerGlnGluLeuGlnAlaLeuAspAlaLeuGluArgThrMetGlyArgAlaHisMetAlaLysValIleGluPheLeuLysLeuGlnValGlnGluGluThrArgCysArgLeuAlaAlaIleSerHisGlyLeuGluLeuLeuAlaGlyGluGlyLysLeuSerGlyArgGlnLysGluGluLeuLeuThrGlnGlnHisLysAlaPheTrpGlnGluAlaGluArgPheSerArgGluPheValGlnArgGlyLysAspLeuValThrAlaSerLeuAlaHisGlnValGluGlyThrAlaLysLeuThrLeuAlaGlnGluGluGluGlnArgSerPheLeuAlaGluAlaGlnProThrAlaAspProGluLysPheLeuGluAlaPheHisGluValLeuGluArgGlnArgLeuMetGlnCysAspLeuGluGluGluGluAsnValArgAlaThrGluAlaValValAlaLeuCysGlnGluLeuTyrPheSerThrValAspThrPheGlnLysPheValAspAlaLeuPheLeuGlnThrLeuProGlyMetThrGlyLeuProProGluGluCysAspTyrLeuArgGlnGluValGlnGluAsnAlaAlaTrpGlnLeuGlyLysSerAsnArgPheArgArgGlnGlnTrpLysLeuPheGlnGluLeuLeuGluGlnAspGlnGlnValTrpMetGluGluCysAlaLeuSerSerValLeuGlnThrHisLeuArgGluAspHisGluGlyThrIleArgGlyValLeuGlyArgLeuGlyGlyLeuThrGluGluSerThrArgCysValLeuGlnGlyHisAspLeuLeuLeuArgSerAlaLeuArgArgLeuAlaLeuArgGlyAsnAlaLeuAlaThrLeuThrGlnMetArgLeuSerGlyLysLysHisLeuLeuGlnGluLeuArgGluGlnArgAlaLeuGluGlnGlySerSerGlnCysLeuAspGluHisGlnTrpGlnLeuLeuArgAlaLeuGluAlaArgValLeuGluGluAlaSerArgLeuGluGluGluAlaGlnGlnThrArgLeuGlnLeuGlnGlnArgLeuLeuAlaGluAlaGlnGluValGlyGlnLeuLeuGlnGlnHisMetGluCysAlaIleGlyGlnAlaLeuLeuValHisAlaArgAsnAlaAlaThrLysSerArgAlaLysAspArgAspAspPheLysArgThrLeuMetGluAlaAlaValGluSerValTyrValThrSerAlaGlyValSerArgLeuValGlnAlaTyrTyrGlnGlnIleGlyArgIleMetGluAspHisGluGluArgLysLeuGlnHisLeuLysThrLeuGlnGlyGluArgMetGluAsnTyrLysLeuArgLysLysGlnGluLeuSerAsnProSerSerGlySerArgThrAlaGlyGlyAlaHisGluThrSerGlnAlaValHisGlnArgMetLeuSerGlnGlnLysArgPheLeuAlaGlnPheProValHisGlnGlnMetArgLeuHisAlaGlnGlnGlnGlnAlaGlyValMetAspLeuLeuGluAlaGlnLeuGluThrGlnLeuGlnGluAlaGluGlnAsnPheIleSerGluLeuAlaAlaLeuAlaArgValProLeuAlaGluSerLysLeuLeuProAlaLysArgGlyLeuLeuGluLysProLeuArgThrLysArgLysLysProLeuProGlnGluArgGlyAspLeuGlyValProAsnAsnGluAspLeuAlaSerGlyAspGlnThrSerGlySerLeuSerSerLysArgLeuSerGlnGlnGluSerGluAlaGlyAspSerGlyAsnSerLysLysMetLeuLysArgArgSerAsnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251631"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 414,
          "referenceAllele": "C",
          "start": 413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "ENST00000509451.1:c.248C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426774.1:p.Ser83Ter",
        "hgvsWellDefined": "ENSP00000426774.1:p.Ser83_Val535delinsArgArgArgLysArgGluValGlnMetSerLysAspLysGluAlaValAspGluCysGluProProSerAsnSerAsnIleThrAlaPheAlaLeuLysAlaLysValIleTyrProIleAsnGlnLysPheArgProLeuAlaAspGlySerSerAsnProSerLeuHisGluAsnLeuLysGlnAlaValLeuProHisGlnProValGluAlaSerProSerSerSerLeuGlySerLeuSerGlnGlyGluLysAspAspCysSerSerSerSerSerValHisSerAlaThrSerAspAspArgPheLeuSerArgThrPheLeuArgValAsnAlaPheProGluValLeuAlaCysGluSerValAspValAspLeuCysIleTyrSerLeuHisLeuLysAspLeuLeuHisLeuAspThrAlaLeuArgGlnGluLysHisMetMetPheIleGlnIlePheLysMetCysLeuLeuAspLeuLeuProLysLysLysSerAspAspGluLeuTyrGlnLysIleLeuSerLysGlnGluLysAspLeuGluGluLeuGluLysGlyLeuGlnValLysLeuSerAsnThrGluMetSerGlyAlaGlyAspSerGluTyrIleThrLeuAlaAspValGluLysLysGluArgGluTyrSerGluGlnLeuIleAspAsnMetGluAlaPheTrpLysGlnMetAlaAsnIleGlnHisPheLeuValAspGlnPheLysCysSerSerSerLysAlaArgGlnLeuMetMetThrLeuThrGluArgMetIleAlaAlaGluGlyLeuLeuCysAspSerGlnGluLeuGlnAlaLeuAspAlaLeuGluArgThrMetGlyArgAlaHisMetAlaLysValIleGluPheLeuLysLeuGlnValGlnGluGluThrArgCysArgLeuAlaAlaIleSerHisGlyLeuGluLeuLeuAlaGlyGluGlyLysLeuSerGlyArgGlnLysGluGluLeuLeuThrGlnGlnHisLysAlaPheTrpGlnGluAlaGluArgPheSerArgGluPheValGlnArgGlyLysAspLeuValThrAlaSerLeuAlaHisGlnValGluGlyThrAlaLysLeuThrLeuAlaGlnGluGluGluGlnArgSerPheLeuAlaGluAlaGlnProThrAlaAspProGluLysPheLeuGluAlaPheHisGluValLeuGluArgGlnArgLeuMetGlnCysAspLeuGluGluGluGluAsnValArgAlaThrGluAlaValValAlaLeuCysGlnLysAlaMetArgArgHisArgAspThrGlyLysGluAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340211"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826909296",
      "coordinates": [
        {
          "allele": "G",
          "end": 432,
          "referenceAllele": "C",
          "start": 431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "NM_001306090.1:c.248C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001293019.1:p.Ser83Ter",
        "hgvsWellDefined": "NP_001293019.1:p.Ser83_Leu991delinsArgArgArgLysArgGluValGlnMetSerLysAspLysGluAlaValAspGluCysGluProProSerAsnSerAsnIleThrAlaPheAlaLeuLysAlaLysValIleTyrProIleAsnGlnLysPheArgProLeuAlaAspGlySerSerAsnProSerLeuHisGluAsnLeuLysGlnAlaValLeuProHisGlnProValGluAlaSerProSerSerSerLeuGlySerLeuSerGlnGlyGluLysAspAspCysSerSerSerSerSerValHisSerAlaThrSerAspAspArgPheLeuSerArgThrPheLeuArgValAsnAlaPheProGluValLeuAlaCysGluSerValAspValAspLeuCysIleTyrSerLeuHisLeuLysAspLeuLeuHisLeuAspThrAlaLeuArgGlnGluLysHisMetMetPheIleGlnIlePheLysMetCysLeuLeuAspLeuLeuProLysLysLysSerAspAspGluLeuTyrGlnLysIleLeuSerLysGlnGluLysAspLeuGluGluLeuGluLysGlyLeuGlnValLysLeuSerAsnThrGluMetSerGlyAlaGlyAspSerGluTyrIleThrLeuAlaAspValGluLysLysGluArgGluTyrSerGluGlnLeuIleAspAsnMetGluAlaPheTrpLysGlnMetAlaAsnIleGlnHisPheLeuValAspGlnPheLysCysSerSerSerLysAlaArgGlnLeuMetMetThrLeuThrGluArgMetIleAlaAlaGluGlyLeuLeuCysAspSerGlnGluLeuGlnAlaLeuAspAlaLeuGluArgThrMetGlyArgAlaHisMetAlaLysValIleGluPheLeuLysLeuGlnValGlnGluGluThrArgCysArgLeuAlaAlaIleSerHisGlyLeuGluLeuLeuAlaGlyGluGlyLysLeuSerGlyArgGlnLysGluGluLeuLeuThrGlnGlnHisLysAlaPheTrpGlnGluAlaGluArgPheSerArgGluPheValGlnArgGlyLysAspLeuValThrAlaSerLeuAlaHisGlnValGluGlyThrAlaLysLeuThrLeuAlaGlnGluGluGluGlnArgSerPheLeuAlaGluAlaGlnProThrAlaAspProGluLysPheLeuGluAlaPheHisGluValLeuGluArgGlnArgLeuMetGlnCysAspLeuGluGluGluGluAsnValArgAlaThrGluAlaValValAlaLeuCysGlnGluLeuTyrPheSerThrValAspThrPheGlnLysPheValAspAlaLeuPheLeuGlnThrLeuProGlyMetThrGlyLeuProProGluGluCysAspTyrLeuArgGlnGluValGlnGluAsnAlaAlaTrpGlnLeuGlyLysSerAsnArgPheArgArgGlnGlnTrpLysLeuPheGlnGluLeuLeuGluGlnAspGlnGlnValTrpMetGluGluCysAlaLeuSerSerValLeuGlnThrHisLeuArgGluAspHisGluGlyThrIleArgGlyValLeuGlyArgLeuGlyGlyLeuThrGluGluSerThrArgCysValLeuGlnGlyHisAspLeuLeuLeuArgSerAlaLeuArgArgLeuAlaLeuArgGlyAsnAlaLeuAlaThrLeuThrGlnMetArgLeuSerGlyLysLysHisLeuLeuGlnGluLeuArgGluGlnArgAlaLeuGluGlnGlySerSerGlnCysLeuAspGluHisGlnTrpGlnLeuLeuArgAlaLeuGluAlaArgValLeuGluGluAlaSerArgLeuGluGluGluAlaGlnGlnThrArgLeuGlnLeuGlnGlnArgLeuLeuAlaGluAlaGlnGluValGlyGlnLeuLeuGlnGlnHisMetGluCysAlaIleGlyGlnAlaLeuLeuValHisAlaArgAsnAlaAlaThrLysSerArgAlaLysAspArgAspAspPheLysArgThrLeuMetGluAlaAlaValGluSerValTyrValThrSerAlaGlyValSerArgLeuValGlnAlaTyrTyrGlnGlnIleGlyArgIleMetGluAspHisGluGluArgLysLeuGlnHisLeuLysThrLeuGlnGlyGluArgMetGluAsnTyrLysLeuArgLysLysGlnGluLeuSerAsnProSerSerGlySerArgThrAlaGlyGlyAlaHisGluThrSerGlnAlaValHisGlnArgMetLeuSerGlnGlnLysArgPheLeuAlaGlnPheProValHisGlnGlnMetArgLeuHisAlaGlnGlnGlnGlnAlaGlyValMetAspLeuLeuGluAlaGlnLeuGluThrGlnLeuGlnGluAlaGluGlnAsnPheIleSerGluLeuAlaAlaLeuAlaArgValProLeuAlaGluSerLysLeuLeuProAlaLysArgGlyLeuLeuGluLysProLeuArgThrLysArgLysLysProLeuProGlnGluArgGlyAspLeuGlyValProAsnAsnGluAspLeuAlaSerGlyAspGlnThrSerGlySerLeuSerLysArgLeuSerGlnGlnGluSerGluAlaGlyAspSerGlyAsnSerLysLysMetLeuLysArgArgSerAsnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025981"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826910210",
      "coordinates": [
        {
          "allele": "G",
          "end": 432,
          "referenceAllele": "C",
          "start": 431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "NM_001306092.1:c.248C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001293021.1:p.Ser83Ter",
        "hgvsWellDefined": "NP_001293021.1:p.Ser83_Val535delinsArgArgArgLysArgGluValGlnMetSerLysAspLysGluAlaValAspGluCysGluProProSerAsnSerAsnIleThrAlaPheAlaLeuLysAlaLysValIleTyrProIleAsnGlnLysPheArgProLeuAlaAspGlySerSerAsnProSerLeuHisGluAsnLeuLysGlnAlaValLeuProHisGlnProValGluAlaSerProSerSerSerLeuGlySerLeuSerGlnGlyGluLysAspAspCysSerSerSerSerSerValHisSerAlaThrSerAspAspArgPheLeuSerArgThrPheLeuArgValAsnAlaPheProGluValLeuAlaCysGluSerValAspValAspLeuCysIleTyrSerLeuHisLeuLysAspLeuLeuHisLeuAspThrAlaLeuArgGlnGluLysHisMetMetPheIleGlnIlePheLysMetCysLeuLeuAspLeuLeuProLysLysLysSerAspAspGluLeuTyrGlnLysIleLeuSerLysGlnGluLysAspLeuGluGluLeuGluLysGlyLeuGlnValLysLeuSerAsnThrGluMetSerGlyAlaGlyAspSerGluTyrIleThrLeuAlaAspValGluLysLysGluArgGluTyrSerGluGlnLeuIleAspAsnMetGluAlaPheTrpLysGlnMetAlaAsnIleGlnHisPheLeuValAspGlnPheLysCysSerSerSerLysAlaArgGlnLeuMetMetThrLeuThrGluArgMetIleAlaAlaGluGlyLeuLeuCysAspSerGlnGluLeuGlnAlaLeuAspAlaLeuGluArgThrMetGlyArgAlaHisMetAlaLysValIleGluPheLeuLysLeuGlnValGlnGluGluThrArgCysArgLeuAlaAlaIleSerHisGlyLeuGluLeuLeuAlaGlyGluGlyLysLeuSerGlyArgGlnLysGluGluLeuLeuThrGlnGlnHisLysAlaPheTrpGlnGluAlaGluArgPheSerArgGluPheValGlnArgGlyLysAspLeuValThrAlaSerLeuAlaHisGlnValGluGlyThrAlaLysLeuThrLeuAlaGlnGluGluGluGlnArgSerPheLeuAlaGluAlaGlnProThrAlaAspProGluLysPheLeuGluAlaPheHisGluValLeuGluArgGlnArgLeuMetGlnCysAspLeuGluGluGluGluAsnValArgAlaThrGluAlaValValAlaLeuCysGlnLysAlaMetArgArgHisArgAspThrGlyLysGluAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025983"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2742012335",
      "coordinates": [
        {
          "allele": "G",
          "end": 432,
          "referenceAllele": "C",
          "start": 431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "NM_153717.2:c.248C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_714928.1:p.Ser83Ter",
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    },
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        {
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          "start": 437
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070393"
    },
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        {
          "allele": "G",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070394"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 439,
          "referenceAllele": "C",
          "start": 438
        }
      ],
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080667"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS117743"
    },
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      "coordinates": [
        {
          "allele": "G",
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      "referenceSequence": "http://reg.genome.network/refseq/RS117744"
    },
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        {
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      "proteinEffect": {
        "hgvs": "NP_714928.1:p.Ser83Ter",
        "hgvsWellDefined": "NP_714928.1:p.Ser83_Leu992delinsArgArgArgLysArgGluValGlnMetSerLysAspLysGluAlaValAspGluCysGluProProSerAsnSerAsnIleThrAlaPheAlaLeuLysAlaLysValIleTyrProIleAsnGlnLysPheArgProLeuAlaAspGlySerSerAsnProSerLeuHisGluAsnLeuLysGlnAlaValLeuProHisGlnProValGluAlaSerProSerSerSerLeuGlySerLeuSerGlnGlyGluLysAspAspCysSerSerSerSerSerValHisSerAlaThrSerAspAspArgPheLeuSerArgThrPheLeuArgValAsnAlaPheProGluValLeuAlaCysGluSerValAspValAspLeuCysIleTyrSerLeuHisLeuLysAspLeuLeuHisLeuAspThrAlaLeuArgGlnGluLysHisMetMetPheIleGlnIlePheLysMetCysLeuLeuAspLeuLeuProLysLysLysSerAspAspGluLeuTyrGlnLysIleLeuSerLysGlnGluLysAspLeuGluGluLeuGluLysGlyLeuGlnValLysLeuSerAsnThrGluMetSerGlyAlaGlyAspSerGluTyrIleThrLeuAlaAspValGluLysLysGluArgGluTyrSerGluGlnLeuIleAspAsnMetGluAlaPheTrpLysGlnMetAlaAsnIleGlnHisPheLeuValAspGlnPheLysCysSerSerSerLysAlaArgGlnLeuMetMetThrLeuThrGluArgMetIleAlaAlaGluGlyLeuLeuCysAspSerGlnGluLeuGlnAlaLeuAspAlaLeuGluArgThrMetGlyArgAlaHisMetAlaLysValIleGluPheLeuLysLeuGlnValGlnGluGluThrArgCysArgLeuAlaAlaIleSerHisGlyLeuGluLeuLeuAlaGlyGluGlyLysLeuSerGlyArgGlnLysGluGluLeuLeuThrGlnGlnHisLysAlaPheTrpGlnGluAlaGluArgPheSerArgGluPheValGlnArgGlyLysAspLeuValThrAlaSerLeuAlaHisGlnValGluGlyThrAlaLysLeuThrLeuAlaGlnGluGluGluGlnArgSerPheLeuAlaGluAlaGlnProThrAlaAspProGluLysPheLeuGluAlaPheHisGluValLeuGluArgGlnArgLeuMetGlnCysAspLeuGluGluGluGluAsnValArgAlaThrGluAlaValValAlaLeuCysGlnGluLeuTyrPheSerThrValAspThrPheGlnLysPheValAspAlaLeuPheLeuGlnThrLeuProGlyMetThrGlyLeuProProGluGluCysAspTyrLeuArgGlnGluValGlnGluAsnAlaAlaTrpGlnLeuGlyLysSerAsnArgPheArgArgGlnGlnTrpLysLeuPheGlnGluLeuLeuGluGlnAspGlnGlnValTrpMetGluGluCysAlaLeuSerSerValLeuGlnThrHisLeuArgGluAspHisGluGlyThrIleArgGlyValLeuGlyArgLeuGlyGlyLeuThrGluGluSerThrArgCysValLeuGlnGlyHisAspLeuLeuLeuArgSerAlaLeuArgArgLeuAlaLeuArgGlyAsnAlaLeuAlaThrLeuThrGlnMetArgLeuSerGlyLysLysHisLeuLeuGlnGluLeuArgGluGlnArgAlaLeuGluGlnGlySerSerGlnCysLeuAspGluHisGlnTrpGlnLeuLeuArgAlaLeuGluAlaArgValLeuGluGluAlaSerArgLeuGluGluGluAlaGlnGlnThrArgLeuGlnLeuGlnGlnArgLeuLeuAlaGluAlaGlnGluValGlyGlnLeuLeuGlnGlnHisMetGluCysAlaIleGlyGlnAlaLeuLeuValHisAlaArgAsnAlaAlaThrLysSerArgAlaLysAspArgAspAspPheLysArgThrLeuMetGluAlaAlaValGluSerValTyrValThrSerAlaGlyValSerArgLeuValGlnAlaTyrTyrGlnGlnIleGlyArgIleMetGluAspHisGluGluArgLysLeuGlnHisLeuLysThrLeuGlnGlyGluArgMetGluAsnTyrLysLeuArgLysLysGlnGluLeuSerAsnProSerSerGlySerArgThrAlaGlyGlyAlaHisGluThrSerGlnAlaValHisGlnArgMetLeuSerGlnGlnLysArgPheLeuAlaGlnPheProValHisGlnGlnMetArgLeuHisAlaGlnGlnGlnGlnAlaGlyValMetAspLeuLeuGluAlaGlnLeuGluThrGlnLeuGlnGluAlaGluGlnAsnPheIleSerGluLeuAlaAlaLeuAlaArgValProLeuAlaGluSerLysLeuLeuProAlaLysArgGlyLeuLeuGluLysProLeuArgThrLysArgLysLysProLeuProGlnGluArgGlyAspLeuGlyValProAsnAsnGluAspLeuAlaSerGlyAspGlnThrSerGlySerLeuSerSerLysArgLeuSerGlnGlnGluSerGluAlaGlyAspSerGlyAsnSerLysLysMetLeuLysArgArgSerAsnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672570",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264956.11:c.248C>G"
          },
          "RefSeq": {
            "hgvs": "NM_153717.3:c.248C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264956.6:p.Ser83Ter"
          },
          "RefSeq": {
            "hgvs": "NP_714928.1:p.Ser83Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826909296",
      "coordinates": [
        {
          "allele": "G",
          "end": 428,
          "referenceAllele": "C",
          "start": 427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "NM_001306090.2:c.248C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001293019.1:p.Ser83Ter",
        "hgvsWellDefined": "NP_001293019.1:p.Ser83_Leu991delinsArgArgArgLysArgGluValGlnMetSerLysAspLysGluAlaValAspGluCysGluProProSerAsnSerAsnIleThrAlaPheAlaLeuLysAlaLysValIleTyrProIleAsnGlnLysPheArgProLeuAlaAspGlySerSerAsnProSerLeuHisGluAsnLeuLysGlnAlaValLeuProHisGlnProValGluAlaSerProSerSerSerLeuGlySerLeuSerGlnGlyGluLysAspAspCysSerSerSerSerSerValHisSerAlaThrSerAspAspArgPheLeuSerArgThrPheLeuArgValAsnAlaPheProGluValLeuAlaCysGluSerValAspValAspLeuCysIleTyrSerLeuHisLeuLysAspLeuLeuHisLeuAspThrAlaLeuArgGlnGluLysHisMetMetPheIleGlnIlePheLysMetCysLeuLeuAspLeuLeuProLysLysLysSerAspAspGluLeuTyrGlnLysIleLeuSerLysGlnGluLysAspLeuGluGluLeuGluLysGlyLeuGlnValLysLeuSerAsnThrGluMetSerGlyAlaGlyAspSerGluTyrIleThrLeuAlaAspValGluLysLysGluArgGluTyrSerGluGlnLeuIleAspAsnMetGluAlaPheTrpLysGlnMetAlaAsnIleGlnHisPheLeuValAspGlnPheLysCysSerSerSerLysAlaArgGlnLeuMetMetThrLeuThrGluArgMetIleAlaAlaGluGlyLeuLeuCysAspSerGlnGluLeuGlnAlaLeuAspAlaLeuGluArgThrMetGlyArgAlaHisMetAlaLysValIleGluPheLeuLysLeuGlnValGlnGluGluThrArgCysArgLeuAlaAlaIleSerHisGlyLeuGluLeuLeuAlaGlyGluGlyLysLeuSerGlyArgGlnLysGluGluLeuLeuThrGlnGlnHisLysAlaPheTrpGlnGluAlaGluArgPheSerArgGluPheValGlnArgGlyLysAspLeuValThrAlaSerLeuAlaHisGlnValGluGlyThrAlaLysLeuThrLeuAlaGlnGluGluGluGlnArgSerPheLeuAlaGluAlaGlnProThrAlaAspProGluLysPheLeuGluAlaPheHisGluValLeuGluArgGlnArgLeuMetGlnCysAspLeuGluGluGluGluAsnValArgAlaThrGluAlaValValAlaLeuCysGlnGluLeuTyrPheSerThrValAspThrPheGlnLysPheValAspAlaLeuPheLeuGlnThrLeuProGlyMetThrGlyLeuProProGluGluCysAspTyrLeuArgGlnGluValGlnGluAsnAlaAlaTrpGlnLeuGlyLysSerAsnArgPheArgArgGlnGlnTrpLysLeuPheGlnGluLeuLeuGluGlnAspGlnGlnValTrpMetGluGluCysAlaLeuSerSerValLeuGlnThrHisLeuArgGluAspHisGluGlyThrIleArgGlyValLeuGlyArgLeuGlyGlyLeuThrGluGluSerThrArgCysValLeuGlnGlyHisAspLeuLeuLeuArgSerAlaLeuArgArgLeuAlaLeuArgGlyAsnAlaLeuAlaThrLeuThrGlnMetArgLeuSerGlyLysLysHisLeuLeuGlnGluLeuArgGluGlnArgAlaLeuGluGlnGlySerSerGlnCysLeuAspGluHisGlnTrpGlnLeuLeuArgAlaLeuGluAlaArgValLeuGluGluAlaSerArgLeuGluGluGluAlaGlnGlnThrArgLeuGlnLeuGlnGlnArgLeuLeuAlaGluAlaGlnGluValGlyGlnLeuLeuGlnGlnHisMetGluCysAlaIleGlyGlnAlaLeuLeuValHisAlaArgAsnAlaAlaThrLysSerArgAlaLysAspArgAspAspPheLysArgThrLeuMetGluAlaAlaValGluSerValTyrValThrSerAlaGlyValSerArgLeuValGlnAlaTyrTyrGlnGlnIleGlyArgIleMetGluAspHisGluGluArgLysLeuGlnHisLeuLysThrLeuGlnGlyGluArgMetGluAsnTyrLysLeuArgLysLysGlnGluLeuSerAsnProSerSerGlySerArgThrAlaGlyGlyAlaHisGluThrSerGlnAlaValHisGlnArgMetLeuSerGlnGlnLysArgPheLeuAlaGlnPheProValHisGlnGlnMetArgLeuHisAlaGlnGlnGlnGlnAlaGlyValMetAspLeuLeuGluAlaGlnLeuGluThrGlnLeuGlnGluAlaGluGlnAsnPheIleSerGluLeuAlaAlaLeuAlaArgValProLeuAlaGluSerLysLeuLeuProAlaLysArgGlyLeuLeuGluLysProLeuArgThrLysArgLysLysProLeuProGlnGluArgGlyAspLeuGlyValProAsnAsnGluAspLeuAlaSerGlyAspGlnThrSerGlySerLeuSerLysArgLeuSerGlnGlnGluSerGluAlaGlyAspSerGlyAsnSerLysLysMetLeuLysArgArgSerAsnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683849"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826910210",
      "coordinates": [
        {
          "allele": "G",
          "end": 428,
          "referenceAllele": "C",
          "start": 427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "NM_001306092.2:c.248C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001293021.1:p.Ser83Ter",
        "hgvsWellDefined": "NP_001293021.1:p.Ser83_Val535delinsArgArgArgLysArgGluValGlnMetSerLysAspLysGluAlaValAspGluCysGluProProSerAsnSerAsnIleThrAlaPheAlaLeuLysAlaLysValIleTyrProIleAsnGlnLysPheArgProLeuAlaAspGlySerSerAsnProSerLeuHisGluAsnLeuLysGlnAlaValLeuProHisGlnProValGluAlaSerProSerSerSerLeuGlySerLeuSerGlnGlyGluLysAspAspCysSerSerSerSerSerValHisSerAlaThrSerAspAspArgPheLeuSerArgThrPheLeuArgValAsnAlaPheProGluValLeuAlaCysGluSerValAspValAspLeuCysIleTyrSerLeuHisLeuLysAspLeuLeuHisLeuAspThrAlaLeuArgGlnGluLysHisMetMetPheIleGlnIlePheLysMetCysLeuLeuAspLeuLeuProLysLysLysSerAspAspGluLeuTyrGlnLysIleLeuSerLysGlnGluLysAspLeuGluGluLeuGluLysGlyLeuGlnValLysLeuSerAsnThrGluMetSerGlyAlaGlyAspSerGluTyrIleThrLeuAlaAspValGluLysLysGluArgGluTyrSerGluGlnLeuIleAspAsnMetGluAlaPheTrpLysGlnMetAlaAsnIleGlnHisPheLeuValAspGlnPheLysCysSerSerSerLysAlaArgGlnLeuMetMetThrLeuThrGluArgMetIleAlaAlaGluGlyLeuLeuCysAspSerGlnGluLeuGlnAlaLeuAspAlaLeuGluArgThrMetGlyArgAlaHisMetAlaLysValIleGluPheLeuLysLeuGlnValGlnGluGluThrArgCysArgLeuAlaAlaIleSerHisGlyLeuGluLeuLeuAlaGlyGluGlyLysLeuSerGlyArgGlnLysGluGluLeuLeuThrGlnGlnHisLysAlaPheTrpGlnGluAlaGluArgPheSerArgGluPheValGlnArgGlyLysAspLeuValThrAlaSerLeuAlaHisGlnValGluGlyThrAlaLysLeuThrLeuAlaGlnGluGluGluGlnArgSerPheLeuAlaGluAlaGlnProThrAlaAspProGluLysPheLeuGluAlaPheHisGluValLeuGluArgGlnArgLeuMetGlnCysAspLeuGluGluGluGluAsnValArgAlaThrGluAlaValValAlaLeuCysGlnLysAlaMetArgArgHisArgAspThrGlyLysGluAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683851"
    }
  ],
  "type": "nucleotide"
}