{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3723343",
  "communityStandardTitle": [
    "NM_006295.3(VARS1):c.1324C>T (p.Arg442Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5935217",
        "active": true,
        "id": "COSM5935217"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=510990[alleleid]",
        "alleleId": 510990,
        "preferredName": "NM_006295.3(VARS1):c.1324C>T (p.Arg442Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/520393",
        "RCV": [
          "RCV000678685"
        ],
        "variationId": 520393
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/6-31753046-G-A",
        "id": "6-31753046-G-A",
        "variant": "6:31753046 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.31753046G>A?assembly=hg19",
        "id": "chr6:g.31753046G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.31785269G>A?assembly=hg38",
        "id": "chr6:g.31785269G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/763777257",
        "rs": 763777257
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-31753046-G-A?dataset=gnomad_r2_1",
        "id": "6-31753046-G-A",
        "variant": "6:31753046 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-31785269-G-A?dataset=gnomad_r4",
        "id": "6-31785269-G-A",
        "variant": "6:31785269 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 31785269,
          "referenceAllele": "G",
          "start": 31785268
        }
      ],
      "hgvs": [
        "NC_000006.12:g.31785269G>A",
        "CM000668.2:g.31785269G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 31753046,
          "referenceAllele": "G",
          "start": 31753045
        }
      ],
      "hgvs": [
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        "CM000668.1:g.31753046G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 31861025,
          "referenceAllele": "G",
          "start": 31861024
        }
      ],
      "hgvs": [
        "NC_000006.10:g.31861025G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 15667,
          "referenceAllele": "C",
          "start": 15666
        }
      ],
      "hgvs": [
        "NG_028229.1:g.15667C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004142"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1564,
          "referenceAllele": "C",
          "start": 1563
        }
      ],
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      "geneNCBI_id": 7407,
      "geneSymbol": "VARS1",
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        "ENST00000375663.8:c.1324C>T"
      ],
      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751650",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375663.8:c.1324C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006295.3:c.1324C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364815.3:p.Arg442Ter"
          },
          "RefSeq": {
            "hgvs": "NP_006286.1:p.Arg442Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1765,
          "referenceAllele": "C",
          "start": 1764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012651",
      "geneNCBI_id": 7407,
      "geneSymbol": "VARS1",
      "hgvs": [
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270810"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 635,
          "referenceAllele": "C",
          "start": 634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012651",
      "geneNCBI_id": 7407,
      "geneSymbol": "VARS1",
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS327920"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 867,
          "referenceAllele": "C",
          "start": 866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012651",
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      "geneSymbol": "VARS1",
      "hgvs": [
        "ENST00000495010.5:n.867C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS331807"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658828049",
      "coordinates": [
        {
          "allele": "T",
          "end": 1747,
          "referenceAllele": "C",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN012651",
      "geneNCBI_id": 7407,
      "geneSymbol": "VARS1",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_006286.1:p.Arg442_Leu1264delinsAlaCysPheThrMetAspProLysLeuSerAlaAlaValThrGluAlaPheValArgLeuHisGluGluGlyIleIleTyrArgSerThrArgLeuValAsnTrpSerCysThrLeuAsnSerAlaIleSerAspIleGluValAspLysLysGluLeuThrGlyArgThrLeuLeuSerValProGlyTyrLysGluLysValGluPheGlyValLeuValSerPheAlaTyrLysValGlnGlySerAspSerAspGluGluValValValAlaThrThrArgIleGluThrMetLeuGlyAspValAlaValAlaValHisProLysAspThrArgTyrGlnHisLeuLysGlyLysAsnValIleHisProPheLeuSerArgSerLeuProIleValPheAspGluPheValAspMetAspPheGlyThrGlyAlaValLysIleThrProAlaHisAspGlnAsnAspTyrGluValGlyGlnArgHisGlyLeuGluAlaIleSerIleMetAspSerArgGlyAlaLeuIleAsnValProProProPheLeuGlyLeuProArgPheGluAlaArgLysAlaValLeuValAlaLeuLysGluArgGlyLeuPheArgGlyIleGluAspAsnProMetValValProLeuCysAsnArgSerLysAspValValGluProLeuLeuArgProGlnTrpTyrValArgCysGlyGluMetAlaGlnAlaAlaSerAlaAlaValThrArgGlyAspLeuArgIleLeuProGluAlaHisGlnArgThrTrpHisAlaTrpMetAspAsnIleArgGluTrpCysIleSerArgGlnLeuTrpTrpGlyHisArgIleProAlaTyrPheValThrValSerAspProAlaValProProGlyGluAspProAspGlyArgTyrTrpValSerGlyArgAsnGluAlaGluAlaArgGluLysAlaAlaLysGluPheGlyValSerProAspLysIleSerLeuGlnGlnAspGluAspValLeuAspThrTrpPheSerSerGlyLeuPheProLeuSerIleLeuGlyTrpProAsnGlnSerGluAspLeuSerValPheTyrProGlyThrLeuLeuGluThrGlyHisAspIleLeuPhePheTrpValAlaArgMetValMetLeuGlyLeuLysLeuThrGlyArgLeuProPheArgGluValTyrLeuHisAlaIleValArgAspAlaHisGlyArgLysMetSerLysSerLeuGlyAsnValIleAspProLeuAspValIleTyrGlyIleSerLeuGlnGlyLeuHisAsnGlnLeuLeuAsnSerAsnLeuAspProSerGluValGluLysAlaLysGluGlyGlnLysAlaAspPheProAlaGlyIleProGluCysGlyThrAspAlaLeuArgPheGlyLeuCysAlaTyrMetSerGlnGlyArgAspIleAsnLeuAspValAsnArgIleLeuGlyTyrArgHisPheCysAsnLysLeuTrpAsnAlaThrLysPheAlaLeuArgGlyLeuGlyLysGlyPheValProSerProThrSerGlnProGlyGlyHisGluSerLeuValAspArgTrpIleArgSerArgLeuThrGluAlaValArgLeuSerAsnGlnGlyPheGlnAlaTyrAspPheProAlaValThrThrAlaGlnTyrSerPheTrpLeuTyrGluLeuCysAspValTyrLeuGluCysLeuLysProValLeuAsnGlyValAspGlnValAlaAlaGluCysAlaArgGlnThrLeuTyrThrCysLeuAspValGlyLeuArgLeuLeuSerProPheMetProPheValThrGluGluLeuPheGlnArgLeuProArgArgMetProGlnAlaProProSerLeuCysValThrProTyrProGluProSerGluCysSerTrpLysAspProGluAlaGluAlaAlaLeuGluLeuAlaLeuSerIleThrArgAlaValArgSerLeuArgAlaAspTyrAsnLeuThrArgIleArgProAspCysPheLeuGluValAlaAspGluAlaThrGlyAlaLeuAlaSerAlaValSerGlyTyrValGlnAlaLeuAlaSerAlaGlyValValAlaValLeuAlaLeuGlyAlaProAlaProGlnGlyCysAlaValAlaLeuAlaSerAspArgCysSerIleHisLeuGlnLeuGlnGlyLeuValAspProAlaArgGluLeuGlyLysLeuGlnAlaLysArgValGluAlaGlnArgGlnAlaGlnArgLeuArgGluArgArgAlaAlaSerGlyTyrProValLysValProLeuGluValGlnGluAlaAspGluAlaLysLeuGlnGlnThrGluAlaGluLeuArgLysValAspGluAlaIleAlaLeuPheGlnLysMetLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031316"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1743,
          "referenceAllele": "C",
          "start": 1742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012651",
      "geneNCBI_id": 7407,
      "geneSymbol": "VARS1",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "XP_005249419.1:p.Arg443Ter",
        "hgvsWellDefined": "XP_005249419.1:p.Arg443_Leu1265delinsAlaCysPheThrMetAspProLysLeuSerAlaAlaValThrGluAlaPheValArgLeuHisGluGluGlyIleIleTyrArgSerThrArgLeuValAsnTrpSerCysThrLeuAsnSerAlaIleSerAspIleGluValAspLysLysGluLeuThrGlyArgThrLeuLeuSerValProGlyTyrLysGluLysValGluPheGlyValLeuValSerPheAlaTyrLysValGlnGlySerAspSerAspGluGluValValValAlaThrThrArgIleGluThrMetLeuGlyAspValAlaValAlaValHisProLysAspThrArgTyrGlnHisLeuLysGlyLysAsnValIleHisProPheLeuSerArgSerLeuProIleValPheAspGluPheValAspMetAspPheGlyThrGlyAlaValLysIleThrProAlaHisAspGlnAsnAspTyrGluValGlyGlnArgHisGlyLeuGluAlaIleSerIleMetAspSerArgGlyAlaLeuIleAsnValProProProPheLeuGlyLeuProArgPheGluAlaArgLysAlaValLeuValAlaLeuLysGluArgGlyLeuPheArgGlyIleGluAspAsnProMetValValProLeuCysAsnArgSerLysAspValValGluProLeuLeuArgProGlnTrpTyrValArgCysGlyGluMetAlaGlnAlaAlaSerAlaAlaValThrArgGlyAspLeuArgIleLeuProGluAlaHisGlnArgThrTrpHisAlaTrpMetAspAsnIleArgGluTrpCysIleSerArgGlnLeuTrpTrpGlyHisArgIleProAlaTyrPheValThrValSerAspProAlaValProProGlyGluAspProAspGlyArgTyrTrpValSerGlyArgAsnGluAlaGluAlaArgGluLysAlaAlaLysGluPheGlyValSerProAspLysIleSerLeuGlnGlnAspGluAspValLeuAspThrTrpPheSerSerGlyLeuPheProLeuSerIleLeuGlyTrpProAsnGlnSerGluAspLeuSerValPheTyrProGlyThrLeuLeuGluThrGlyHisAspIleLeuPhePheTrpValAlaArgMetValMetLeuGlyLeuLysLeuThrGlyArgLeuProPheArgGluValTyrLeuHisAlaIleValArgAspAlaHisGlyArgLysMetSerLysSerLeuGlyAsnValIleAspProLeuAspValIleTyrGlyIleSerLeuGlnGlyLeuHisAsnGlnLeuLeuAsnSerAsnLeuAspProSerGluValGluLysAlaLysGluGlyGlnLysAlaAspPheProAlaGlyIleProGluCysGlyThrAspAlaLeuArgPheGlyLeuCysAlaTyrMetSerGlnGlyArgAspIleAsnLeuAspValAsnArgIleLeuGlyTyrArgHisPheCysAsnLysLeuTrpAsnAlaThrLysPheAlaLeuArgGlyLeuGlyLysGlyPheValProSerProThrSerGlnProGlyGlyHisGluSerLeuValAspArgTrpIleArgSerArgLeuThrGluAlaValArgLeuSerAsnGlnGlyPheGlnAlaTyrAspPheProAlaValThrThrAlaGlnTyrSerPheTrpLeuTyrGluLeuCysAspValTyrLeuGluCysLeuLysProValLeuAsnGlyValAspGlnValAlaAlaGluCysAlaArgGlnThrLeuTyrThrCysLeuAspValGlyLeuArgLeuLeuSerProPheMetProPheValThrGluGluLeuPheGlnArgLeuProArgArgMetProGlnAlaProProSerLeuCysValThrProTyrProGluProSerGluCysSerTrpLysAspProGluAlaGluAlaAlaLeuGluLeuAlaLeuSerIleThrArgAlaValArgSerLeuArgAlaAspTyrAsnLeuThrArgIleArgProAspCysPheLeuGluValAlaAspGluAlaThrGlyAlaLeuAlaSerAlaValSerGlyTyrValGlnAlaLeuAlaSerAlaGlyValValAlaValLeuAlaLeuGlyAlaProAlaProGlnGlyCysAlaValAlaLeuAlaSerAspArgCysSerIleHisLeuGlnLeuGlnGlyLeuValAspProAlaArgGluLeuGlyLysLeuGlnAlaLysArgValGluAlaGlnArgGlnAlaGlnArgLeuArgGluArgArgAlaAlaSerGlyTyrProValLysValProLeuGluValGlnGluAlaAspGluAlaLysLeuGlnGlnThrGluAlaGluLeuArgLysValAspGluAlaIleAlaLeuPheGlnLysMetLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058809"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1743,
          "referenceAllele": "C",
          "start": 1742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012651",
      "geneNCBI_id": 7407,
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS122828"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 583,
          "referenceAllele": "C",
          "start": 582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012651",
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      "geneSymbol": "VARS1",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "XP_016866735.1:n.-328C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS565125"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 697,
          "referenceAllele": "C",
          "start": 696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012651",
      "geneNCBI_id": 7407,
      "geneSymbol": "VARS1",
      "hgvs": [
        "XM_024446537.1:c.-328C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302305.1:n.-328C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580197"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1743,
          "referenceAllele": "C",
          "start": 1742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012651",
      "geneNCBI_id": 7407,
      "geneSymbol": "VARS1",
      "hgvs": [
        "XR_926304.2:n.1743C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS608181"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658828049",
      "coordinates": [
        {
          "allele": "T",
          "end": 1564,
          "referenceAllele": "C",
          "start": 1563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012651",
      "geneNCBI_id": 7407,
      "geneSymbol": "VARS1",
      "hgvs": [
        "NM_006295.3:c.1324C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006286.1:p.Arg442Ter",
        "hgvsWellDefined": "NP_006286.1:p.Arg442_Leu1264delinsAlaCysPheThrMetAspProLysLeuSerAlaAlaValThrGluAlaPheValArgLeuHisGluGluGlyIleIleTyrArgSerThrArgLeuValAsnTrpSerCysThrLeuAsnSerAlaIleSerAspIleGluValAspLysLysGluLeuThrGlyArgThrLeuLeuSerValProGlyTyrLysGluLysValGluPheGlyValLeuValSerPheAlaTyrLysValGlnGlySerAspSerAspGluGluValValValAlaThrThrArgIleGluThrMetLeuGlyAspValAlaValAlaValHisProLysAspThrArgTyrGlnHisLeuLysGlyLysAsnValIleHisProPheLeuSerArgSerLeuProIleValPheAspGluPheValAspMetAspPheGlyThrGlyAlaValLysIleThrProAlaHisAspGlnAsnAspTyrGluValGlyGlnArgHisGlyLeuGluAlaIleSerIleMetAspSerArgGlyAlaLeuIleAsnValProProProPheLeuGlyLeuProArgPheGluAlaArgLysAlaValLeuValAlaLeuLysGluArgGlyLeuPheArgGlyIleGluAspAsnProMetValValProLeuCysAsnArgSerLysAspValValGluProLeuLeuArgProGlnTrpTyrValArgCysGlyGluMetAlaGlnAlaAlaSerAlaAlaValThrArgGlyAspLeuArgIleLeuProGluAlaHisGlnArgThrTrpHisAlaTrpMetAspAsnIleArgGluTrpCysIleSerArgGlnLeuTrpTrpGlyHisArgIleProAlaTyrPheValThrValSerAspProAlaValProProGlyGluAspProAspGlyArgTyrTrpValSerGlyArgAsnGluAlaGluAlaArgGluLysAlaAlaLysGluPheGlyValSerProAspLysIleSerLeuGlnGlnAspGluAspValLeuAspThrTrpPheSerSerGlyLeuPheProLeuSerIleLeuGlyTrpProAsnGlnSerGluAspLeuSerValPheTyrProGlyThrLeuLeuGluThrGlyHisAspIleLeuPhePheTrpValAlaArgMetValMetLeuGlyLeuLysLeuThrGlyArgLeuProPheArgGluValTyrLeuHisAlaIleValArgAspAlaHisGlyArgLysMetSerLysSerLeuGlyAsnValIleAspProLeuAspValIleTyrGlyIleSerLeuGlnGlyLeuHisAsnGlnLeuLeuAsnSerAsnLeuAspProSerGluValGluLysAlaLysGluGlyGlnLysAlaAspPheProAlaGlyIleProGluCysGlyThrAspAlaLeuArgPheGlyLeuCysAlaTyrMetSerGlnGlyArgAspIleAsnLeuAspValAsnArgIleLeuGlyTyrArgHisPheCysAsnLysLeuTrpAsnAlaThrLysPheAlaLeuArgGlyLeuGlyLysGlyPheValProSerProThrSerGlnProGlyGlyHisGluSerLeuValAspArgTrpIleArgSerArgLeuThrGluAlaValArgLeuSerAsnGlnGlyPheGlnAlaTyrAspPheProAlaValThrThrAlaGlnTyrSerPheTrpLeuTyrGluLeuCysAspValTyrLeuGluCysLeuLysProValLeuAsnGlyValAspGlnValAlaAlaGluCysAlaArgGlnThrLeuTyrThrCysLeuAspValGlyLeuArgLeuLeuSerProPheMetProPheValThrGluGluLeuPheGlnArgLeuProArgArgMetProGlnAlaProProSerLeuCysValThrProTyrProGluProSerGluCysSerTrpLysAspProGluAlaGluAlaAlaLeuGluLeuAlaLeuSerIleThrArgAlaValArgSerLeuArgAlaAspTyrAsnLeuThrArgIleArgProAspCysPheLeuGluValAlaAspGluAlaThrGlyAlaLeuAlaSerAlaValSerGlyTyrValGlnAlaLeuAlaSerAlaGlyValValAlaValLeuAlaLeuGlyAlaProAlaProGlnGlyCysAlaValAlaLeuAlaSerAspArgCysSerIleHisLeuGlnLeuGlnGlyLeuValAspProAlaArgGluLeuGlyLysLeuGlnAlaLysArgValGluAlaGlnArgGlnAlaGlnArgLeuArgGluArgArgAlaAlaSerGlyTyrProValLysValProLeuGluValGlnGluAlaAspGluAlaLysLeuGlnGlnThrGluAlaGluLeuArgLysValAspGluAlaIleAlaLeuPheGlnLysMetLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667384",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375663.8:c.1324C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006295.3:c.1324C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364815.3:p.Arg442Ter"
          },
          "RefSeq": {
            "hgvs": "NP_006286.1:p.Arg442Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}