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  "@id": "http://reg.genome.network/allele/CA275055",
  "communityStandardTitle": [
    "NM_000153.4(GALC):c.205C>T (p.Arg69Ter)"
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      }
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/195020",
        "RCV": [
          "RCV000175531",
          "RCV000723390"
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      {
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        "@id": "http://myvariant.info/v1/variant/chr14:g.88454858G>A?assembly=hg19",
        "id": "chr14:g.88454858G>A"
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    "MyVariantInfo_hg38": [
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        "@id": "http://myvariant.info/v1/variant/chr14:g.87988514G>A?assembly=hg38",
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    "dbSNP": [
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/771111145",
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    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-87988514-G-A?dataset=gnomad_r3",
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    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-87988514-G-A?dataset=gnomad_r4",
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      "chromosome": "14",
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    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS250712"
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      "coordinates": [
        {
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          "endIntronDirection": "-",
          "endIntronOffset": 306,
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      "referenceSequence": "http://reg.genome.network/refseq/RS315838"
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      "referenceSequence": "http://reg.genome.network/refseq/RS364761"
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      "referenceSequence": "http://reg.genome.network/refseq/RS371852"
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      "referenceSequence": "http://reg.genome.network/refseq/RS372568"
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      "referenceSequence": "http://reg.genome.network/refseq/RS372927"
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    {
      "coordinates": [
        {
          "allele": "T",
          "end": 195,
          "referenceAllele": "C",
          "start": 194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004115",
      "geneNCBI_id": 2581,
      "geneSymbol": "GALC",
      "hgvs": [
        "ENST00000622264.4:c.195C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS405647"
    },
    {
      "@id": "http://reg.genome.network/allele/PA275056",
      "coordinates": [
        {
          "allele": "T",
          "end": 312,
          "referenceAllele": "C",
          "start": 311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004115",
      "geneNCBI_id": 2581,
      "geneSymbol": "GALC",
      "hgvs": [
        "NM_000153.3:c.205C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000144.2:p.Arg69Ter",
        "hgvsWellDefined": "NP_000144.2:p.Arg69_Arg685delinsLeuLeuValAsnTyrProGluProTyrArgSerGlnIleLeuAspTyrLeuPheLysProAsnPheGlyAlaSerLeuHisIleLeuLysValGluIleGlyGlyAspGlyGlnThrThrAspGlyThrGluProSerHisMetHisTyrAlaLeuAspGluAsnTyrPheArgGlyTyrGluTrpTrpLeuMetLysGluAlaLysLysArgAsnProAsnIleThrLeuIleGlyLeuProTrpSerPheProGlyTrpLeuGlyLysGlyPheAspTrpProTyrValAsnLeuGlnLeuThrAlaTyrTyrValValThrTrpIleValGlyAlaLysArgTyrHisAspLeuAspIleAspTyrIleGlyIleTrpAsnGluArgSerTyrAsnAlaAsnTyrIleLysIleLeuArgLysMetLeuAsnTyrGlnGlyLeuGlnArgValLysIleIleAlaSerAspAsnLeuTrpGluSerIleSerAlaSerMetLeuLeuAspAlaGluLeuPheLysValValAspValIleGlyAlaHisTyrProGlyThrHisSerAlaLysAspAlaLysLeuThrGlyLysLysLeuTrpSerSerGluAspPheSerThrLeuAsnSerAspMetGlyAlaGlyCysTrpGlyArgIleLeuAsnGlnAsnTyrIleAsnGlyTyrMetThrSerThrIleAlaTrpAsnLeuValAlaSerTyrTyrGluGlnLeuProTyrGlyArgCysGlyLeuMetThrAlaGlnGluProTrpSerGlyHisTyrValValGluSerProValTrpValSerAlaHisThrThrGlnPheThrGlnProGlyTrpTyrTyrLeuLysThrValGlyHisLeuGluLysGlyGlySerTyrValAlaLeuThrAspGlyLeuGlyAsnLeuThrIleIleIleGluThrMetSerHisLysHisSerLysCysIleArgProPheLeuProTyrPheAsnValSerGlnGlnPheAlaThrPheValLeuLysGlySerPheSerGluIleProGluLeuGlnValTrpTyrThrLysLeuGlyLysThrSerGluArgPheLeuPheLysGlnLeuAspSerLeuTrpLeuLeuAspSerAspGlySerPheThrLeuSerLeuHisGluAspGluLeuPheThrLeuThrThrLeuThrThrGlyArgLysGlySerTyrProLeuProProLysSerGlnProPheProSerThrTyrLysAspAspPheAsnValAspTyrProPhePheSerGluAlaProAsnPheAlaAspGlnThrGlyValPheGluTyrPheThrAsnIleGluAspProGlyGluHisHisPheThrLeuArgGlnValLeuAsnGlnArgProIleThrTrpAlaAlaAspAlaSerAsnThrIleSerIleIleGlyAspTyrAsnTrpThrAsnLeuThrIleLysCysAspValTyrIleGluThrProAspThrGlyGlyValPheIleAlaGlyArgValAsnLysGlyGlyIleLeuIleArgSerAlaArgGlyIlePhePheTrpIlePheAlaAsnGlySerTyrArgValThrGlyAspLeuAlaGlyTrpIleIleTyrAlaLeuGlyArgValGluValThrAlaLysLysTrpTyrThrLeuThrLeuThrIleLysGlyHisPheThrSerGlyMetLeuAsnAspLysSerLeuTrpThrAspIleProValAsnPheProLysAsnGlyTrpAlaAlaIleGlyThrHisSerPheGluPheAlaGlnPheAspAsnPheLeuValGluAlaThrArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006215"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 302,
          "endIntronDirection": "-",
          "endIntronOffset": 306,
          "referenceAllele": "C",
          "start": 302,
          "startIntronDirection": "-",
          "startIntronOffset": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004115",
      "geneNCBI_id": 2581,
      "geneSymbol": "GALC",
      "hgvs": [
        "NM_001201401.1:c.196-307C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001188330.1:n.196-307C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017332"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826254311",
      "coordinates": [
        {
          "allele": "T",
          "end": 293,
          "referenceAllele": "C",
          "start": 292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004115",
      "geneNCBI_id": 2581,
      "geneSymbol": "GALC",
      "hgvs": [
        "NM_001201402.1:c.127C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001188331.1:p.Arg43Ter",
        "hgvsWellDefined": "NP_001188331.1:p.Arg43_Arg659delinsLeuLeuValAsnTyrProGluProTyrArgSerGlnIleLeuAspTyrLeuPheLysProAsnPheGlyAlaSerLeuHisIleLeuLysValGluIleGlyGlyAspGlyGlnThrThrAspGlyThrGluProSerHisMetHisTyrAlaLeuAspGluAsnTyrPheArgGlyTyrGluTrpTrpLeuMetLysGluAlaLysLysArgAsnProAsnIleThrLeuIleGlyLeuProTrpSerPheProGlyTrpLeuGlyLysGlyPheAspTrpProTyrValAsnLeuGlnLeuThrAlaTyrTyrValValThrTrpIleValGlyAlaLysArgTyrHisAspLeuAspIleAspTyrIleGlyIleTrpAsnGluArgSerTyrAsnAlaAsnTyrIleLysIleLeuArgLysMetLeuAsnTyrGlnGlyLeuGlnArgValLysIleIleAlaSerAspAsnLeuTrpGluSerIleSerAlaSerMetLeuLeuAspAlaGluLeuPheLysValValAspValIleGlyAlaHisTyrProGlyThrHisSerAlaLysAspAlaLysLeuThrGlyLysLysLeuTrpSerSerGluAspPheSerThrLeuAsnSerAspMetGlyAlaGlyCysTrpGlyArgIleLeuAsnGlnAsnTyrIleAsnGlyTyrMetThrSerThrIleAlaTrpAsnLeuValAlaSerTyrTyrGluGlnLeuProTyrGlyArgCysGlyLeuMetThrAlaGlnGluProTrpSerGlyHisTyrValValGluSerProValTrpValSerAlaHisThrThrGlnPheThrGlnProGlyTrpTyrTyrLeuLysThrValGlyHisLeuGluLysGlyGlySerTyrValAlaLeuThrAspGlyLeuGlyAsnLeuThrIleIleIleGluThrMetSerHisLysHisSerLysCysIleArgProPheLeuProTyrPheAsnValSerGlnGlnPheAlaThrPheValLeuLysGlySerPheSerGluIleProGluLeuGlnValTrpTyrThrLysLeuGlyLysThrSerGluArgPheLeuPheLysGlnLeuAspSerLeuTrpLeuLeuAspSerAspGlySerPheThrLeuSerLeuHisGluAspGluLeuPheThrLeuThrThrLeuThrThrGlyArgLysGlySerTyrProLeuProProLysSerGlnProPheProSerThrTyrLysAspAspPheAsnValAspTyrProPhePheSerGluAlaProAsnPheAlaAspGlnThrGlyValPheGluTyrPheThrAsnIleGluAspProGlyGluHisHisPheThrLeuArgGlnValLeuAsnGlnArgProIleThrTrpAlaAlaAspAlaSerAsnThrIleSerIleIleGlyAspTyrAsnTrpThrAsnLeuThrIleLysCysAspValTyrIleGluThrProAspThrGlyGlyValPheIleAlaGlyArgValAsnLysGlyGlyIleLeuIleArgSerAlaArgGlyIlePhePheTrpIlePheAlaAsnGlySerTyrArgValThrGlyAspLeuAlaGlyTrpIleIleTyrAlaLeuGlyArgValGluValThrAlaLysLysTrpTyrThrLeuThrLeuThrIleLysGlyHisPheThrSerGlyMetLeuAsnAspLysSerLeuTrpThrAspIleProValAsnPheProLysAsnGlyTrpAlaAlaIleGlyThrHisSerPheGluPheAlaGlnPheAspAsnPheLeuValGluAlaThrArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017333"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 573,
          "referenceAllele": "C",
          "start": 572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004115",
      "geneNCBI_id": 2581,
      "geneSymbol": "GALC",
      "hgvs": [
        "XM_011536618.1:c.37C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534920.1:p.Arg13Ter",
        "hgvsWellDefined": "XP_011534920.1:p.Arg13_Arg629delinsLeuLeuValAsnTyrProGluProTyrArgSerGlnIleLeuAspTyrLeuPheLysProAsnPheGlyAlaSerLeuHisIleLeuLysValGluIleGlyGlyAspGlyGlnThrThrAspGlyThrGluProSerHisMetHisTyrAlaLeuAspGluAsnTyrPheArgGlyTyrGluTrpTrpLeuMetLysGluAlaLysLysArgAsnProAsnIleThrLeuIleGlyLeuProTrpSerPheProGlyTrpLeuGlyLysGlyPheAspTrpProTyrValAsnLeuGlnLeuThrAlaTyrTyrValValThrTrpIleValGlyAlaLysArgTyrHisAspLeuAspIleAspTyrIleGlyIleTrpAsnGluArgSerTyrAsnAlaAsnTyrIleLysIleLeuArgLysMetLeuAsnTyrGlnGlyLeuGlnArgValLysIleIleAlaSerAspAsnLeuTrpGluSerIleSerAlaSerMetLeuLeuAspAlaGluLeuPheLysValValAspValIleGlyAlaHisTyrProGlyThrHisSerAlaLysAspAlaLysLeuThrGlyLysLysLeuTrpSerSerGluAspPheSerThrLeuAsnSerAspMetGlyAlaGlyCysTrpGlyArgIleLeuAsnGlnAsnTyrIleAsnGlyTyrMetThrSerThrIleAlaTrpAsnLeuValAlaSerTyrTyrGluGlnLeuProTyrGlyArgCysGlyLeuMetThrAlaGlnGluProTrpSerGlyHisTyrValValGluSerProValTrpValSerAlaHisThrThrGlnPheThrGlnProGlyTrpTyrTyrLeuLysThrValGlyHisLeuGluLysGlyGlySerTyrValAlaLeuThrAspGlyLeuGlyAsnLeuThrIleIleIleGluThrMetSerHisLysHisSerLysCysIleArgProPheLeuProTyrPheAsnValSerGlnGlnPheAlaThrPheValLeuLysGlySerPheSerGluIleProGluLeuGlnValTrpTyrThrLysLeuGlyLysThrSerGluArgPheLeuPheLysGlnLeuAspSerLeuTrpLeuLeuAspSerAspGlySerPheThrLeuSerLeuHisGluAspGluLeuPheThrLeuThrThrLeuThrThrGlyArgLysGlySerTyrProLeuProProLysSerGlnProPheProSerThrTyrLysAspAspPheAsnValAspTyrProPhePheSerGluAlaProAsnPheAlaAspGlnThrGlyValPheGluTyrPheThrAsnIleGluAspProGlyGluHisHisPheThrLeuArgGlnValLeuAsnGlnArgProIleThrTrpAlaAlaAspAlaSerAsnThrIleSerIleIleGlyAspTyrAsnTrpThrAsnLeuThrIleLysCysAspValTyrIleGluThrProAspThrGlyGlyValPheIleAlaGlyArgValAsnLysGlyGlyIleLeuIleArgSerAlaArgGlyIlePhePheTrpIlePheAlaAsnGlySerTyrArgValThrGlyAspLeuAlaGlyTrpIleIleTyrAlaLeuGlyArgValGluValThrAlaLysLysTrpTyrThrLeuThrLeuThrIleLysGlyHisPheThrSerGlyMetLeuAsnAspLysSerLeuTrpThrAspIleProValAsnPheProLysAsnGlyTrpAlaAlaIleGlyThrHisSerPheGluPheAlaGlnPheAspAsnPheLeuValGluAlaThrArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103603"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 594,
          "referenceAllele": "C",
          "start": 593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004115",
      "geneNCBI_id": 2581,
      "geneSymbol": "GALC",
      "hgvs": [
        "XM_011536618.2:c.37C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534920.1:p.Arg13Ter",
        "hgvsWellDefined": "XP_011534920.1:p.Arg13_Arg629delinsLeuLeuValAsnTyrProGluProTyrArgSerGlnIleLeuAspTyrLeuPheLysProAsnPheGlyAlaSerLeuHisIleLeuLysValGluIleGlyGlyAspGlyGlnThrThrAspGlyThrGluProSerHisMetHisTyrAlaLeuAspGluAsnTyrPheArgGlyTyrGluTrpTrpLeuMetLysGluAlaLysLysArgAsnProAsnIleThrLeuIleGlyLeuProTrpSerPheProGlyTrpLeuGlyLysGlyPheAspTrpProTyrValAsnLeuGlnLeuThrAlaTyrTyrValValThrTrpIleValGlyAlaLysArgTyrHisAspLeuAspIleAspTyrIleGlyIleTrpAsnGluArgSerTyrAsnAlaAsnTyrIleLysIleLeuArgLysMetLeuAsnTyrGlnGlyLeuGlnArgValLysIleIleAlaSerAspAsnLeuTrpGluSerIleSerAlaSerMetLeuLeuAspAlaGluLeuPheLysValValAspValIleGlyAlaHisTyrProGlyThrHisSerAlaLysAspAlaLysLeuThrGlyLysLysLeuTrpSerSerGluAspPheSerThrLeuAsnSerAspMetGlyAlaGlyCysTrpGlyArgIleLeuAsnGlnAsnTyrIleAsnGlyTyrMetThrSerThrIleAlaTrpAsnLeuValAlaSerTyrTyrGluGlnLeuProTyrGlyArgCysGlyLeuMetThrAlaGlnGluProTrpSerGlyHisTyrValValGluSerProValTrpValSerAlaHisThrThrGlnPheThrGlnProGlyTrpTyrTyrLeuLysThrValGlyHisLeuGluLysGlyGlySerTyrValAlaLeuThrAspGlyLeuGlyAsnLeuThrIleIleIleGluThrMetSerHisLysHisSerLysCysIleArgProPheLeuProTyrPheAsnValSerGlnGlnPheAlaThrPheValLeuLysGlySerPheSerGluIleProGluLeuGlnValTrpTyrThrLysLeuGlyLysThrSerGluArgPheLeuPheLysGlnLeuAspSerLeuTrpLeuLeuAspSerAspGlySerPheThrLeuSerLeuHisGluAspGluLeuPheThrLeuThrThrLeuThrThrGlyArgLysGlySerTyrProLeuProProLysSerGlnProPheProSerThrTyrLysAspAspPheAsnValAspTyrProPhePheSerGluAlaProAsnPheAlaAspGlnThrGlyValPheGluTyrPheThrAsnIleGluAspProGlyGluHisHisPheThrLeuArgGlnValLeuAsnGlnArgProIleThrTrpAlaAlaAspAlaSerAsnThrIleSerIleIleGlyAspTyrAsnTrpThrAsnLeuThrIleLysCysAspValTyrIleGluThrProAspThrGlyGlyValPheIleAlaGlyArgValAsnLysGlyGlyIleLeuIleArgSerAlaArgGlyIlePhePheTrpIlePheAlaAsnGlySerTyrArgValThrGlyAspLeuAlaGlyTrpIleIleTyrAlaLeuGlyArgValGluValThrAlaLysLysTrpTyrThrLeuThrLeuThrIleLysGlyHisPheThrSerGlyMetLeuAsnAspLysSerLeuTrpThrAspIleProValAsnPheProLysAsnGlyTrpAlaAlaIleGlyThrHisSerPheGluPheAlaGlnPheAspAsnPheLeuValGluAlaThrArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552566"
    },
    {
      "@id": "http://reg.genome.network/allele/PA275056",
      "coordinates": [
        {
          "allele": "T",
          "end": 223,
          "referenceAllele": "C",
          "start": 222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004115",
      "geneNCBI_id": 2581,
      "geneSymbol": "GALC",
      "hgvs": [
        "NM_000153.4:c.205C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000144.2:p.Arg69Ter",
        "hgvsWellDefined": "NP_000144.2:p.Arg69_Arg685delinsLeuLeuValAsnTyrProGluProTyrArgSerGlnIleLeuAspTyrLeuPheLysProAsnPheGlyAlaSerLeuHisIleLeuLysValGluIleGlyGlyAspGlyGlnThrThrAspGlyThrGluProSerHisMetHisTyrAlaLeuAspGluAsnTyrPheArgGlyTyrGluTrpTrpLeuMetLysGluAlaLysLysArgAsnProAsnIleThrLeuIleGlyLeuProTrpSerPheProGlyTrpLeuGlyLysGlyPheAspTrpProTyrValAsnLeuGlnLeuThrAlaTyrTyrValValThrTrpIleValGlyAlaLysArgTyrHisAspLeuAspIleAspTyrIleGlyIleTrpAsnGluArgSerTyrAsnAlaAsnTyrIleLysIleLeuArgLysMetLeuAsnTyrGlnGlyLeuGlnArgValLysIleIleAlaSerAspAsnLeuTrpGluSerIleSerAlaSerMetLeuLeuAspAlaGluLeuPheLysValValAspValIleGlyAlaHisTyrProGlyThrHisSerAlaLysAspAlaLysLeuThrGlyLysLysLeuTrpSerSerGluAspPheSerThrLeuAsnSerAspMetGlyAlaGlyCysTrpGlyArgIleLeuAsnGlnAsnTyrIleAsnGlyTyrMetThrSerThrIleAlaTrpAsnLeuValAlaSerTyrTyrGluGlnLeuProTyrGlyArgCysGlyLeuMetThrAlaGlnGluProTrpSerGlyHisTyrValValGluSerProValTrpValSerAlaHisThrThrGlnPheThrGlnProGlyTrpTyrTyrLeuLysThrValGlyHisLeuGluLysGlyGlySerTyrValAlaLeuThrAspGlyLeuGlyAsnLeuThrIleIleIleGluThrMetSerHisLysHisSerLysCysIleArgProPheLeuProTyrPheAsnValSerGlnGlnPheAlaThrPheValLeuLysGlySerPheSerGluIleProGluLeuGlnValTrpTyrThrLysLeuGlyLysThrSerGluArgPheLeuPheLysGlnLeuAspSerLeuTrpLeuLeuAspSerAspGlySerPheThrLeuSerLeuHisGluAspGluLeuPheThrLeuThrThrLeuThrThrGlyArgLysGlySerTyrProLeuProProLysSerGlnProPheProSerThrTyrLysAspAspPheAsnValAspTyrProPhePheSerGluAlaProAsnPheAlaAspGlnThrGlyValPheGluTyrPheThrAsnIleGluAspProGlyGluHisHisPheThrLeuArgGlnValLeuAsnGlnArgProIleThrTrpAlaAlaAspAlaSerAsnThrIleSerIleIleGlyAspTyrAsnTrpThrAsnLeuThrIleLysCysAspValTyrIleGluThrProAspThrGlyGlyValPheIleAlaGlyArgValAsnLysGlyGlyIleLeuIleArgSerAlaArgGlyIlePhePheTrpIlePheAlaAsnGlySerTyrArgValThrGlyAspLeuAlaGlyTrpIleIleTyrAlaLeuGlyArgValGluValThrAlaLysLysTrpTyrThrLeuThrLeuThrIleLysGlyHisPheThrSerGlyMetLeuAsnAspLysSerLeuTrpThrAspIleProValAsnPheProLysAsnGlyTrpAlaAlaIleGlyThrHisSerPheGluPheAlaGlnPheAspAsnPheLeuValGluAlaThrArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662329",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261304.7:c.205C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000153.4:c.205C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261304.2:p.Arg69Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000144.2:p.Arg69Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 213,
          "endIntronDirection": "-",
          "endIntronOffset": 306,
          "referenceAllele": "C",
          "start": 213,
          "startIntronDirection": "-",
          "startIntronOffset": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004115",
      "geneNCBI_id": 2581,
      "geneSymbol": "GALC",
      "hgvs": [
        "NM_001201401.2:c.196-307C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001188330.1:n.196-307C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714057"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826254311",
      "coordinates": [
        {
          "allele": "T",
          "end": 293,
          "referenceAllele": "C",
          "start": 292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004115",
      "geneNCBI_id": 2581,
      "geneSymbol": "GALC",
      "hgvs": [
        "NM_001201402.2:c.127C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001188331.1:p.Arg43Ter",
        "hgvsWellDefined": "NP_001188331.1:p.Arg43_Arg659delinsLeuLeuValAsnTyrProGluProTyrArgSerGlnIleLeuAspTyrLeuPheLysProAsnPheGlyAlaSerLeuHisIleLeuLysValGluIleGlyGlyAspGlyGlnThrThrAspGlyThrGluProSerHisMetHisTyrAlaLeuAspGluAsnTyrPheArgGlyTyrGluTrpTrpLeuMetLysGluAlaLysLysArgAsnProAsnIleThrLeuIleGlyLeuProTrpSerPheProGlyTrpLeuGlyLysGlyPheAspTrpProTyrValAsnLeuGlnLeuThrAlaTyrTyrValValThrTrpIleValGlyAlaLysArgTyrHisAspLeuAspIleAspTyrIleGlyIleTrpAsnGluArgSerTyrAsnAlaAsnTyrIleLysIleLeuArgLysMetLeuAsnTyrGlnGlyLeuGlnArgValLysIleIleAlaSerAspAsnLeuTrpGluSerIleSerAlaSerMetLeuLeuAspAlaGluLeuPheLysValValAspValIleGlyAlaHisTyrProGlyThrHisSerAlaLysAspAlaLysLeuThrGlyLysLysLeuTrpSerSerGluAspPheSerThrLeuAsnSerAspMetGlyAlaGlyCysTrpGlyArgIleLeuAsnGlnAsnTyrIleAsnGlyTyrMetThrSerThrIleAlaTrpAsnLeuValAlaSerTyrTyrGluGlnLeuProTyrGlyArgCysGlyLeuMetThrAlaGlnGluProTrpSerGlyHisTyrValValGluSerProValTrpValSerAlaHisThrThrGlnPheThrGlnProGlyTrpTyrTyrLeuLysThrValGlyHisLeuGluLysGlyGlySerTyrValAlaLeuThrAspGlyLeuGlyAsnLeuThrIleIleIleGluThrMetSerHisLysHisSerLysCysIleArgProPheLeuProTyrPheAsnValSerGlnGlnPheAlaThrPheValLeuLysGlySerPheSerGluIleProGluLeuGlnValTrpTyrThrLysLeuGlyLysThrSerGluArgPheLeuPheLysGlnLeuAspSerLeuTrpLeuLeuAspSerAspGlySerPheThrLeuSerLeuHisGluAspGluLeuPheThrLeuThrThrLeuThrThrGlyArgLysGlySerTyrProLeuProProLysSerGlnProPheProSerThrTyrLysAspAspPheAsnValAspTyrProPhePheSerGluAlaProAsnPheAlaAspGlnThrGlyValPheGluTyrPheThrAsnIleGluAspProGlyGluHisHisPheThrLeuArgGlnValLeuAsnGlnArgProIleThrTrpAlaAlaAspAlaSerAsnThrIleSerIleIleGlyAspTyrAsnTrpThrAsnLeuThrIleLysCysAspValTyrIleGluThrProAspThrGlyGlyValPheIleAlaGlyArgValAsnLysGlyGlyIleLeuIleArgSerAlaArgGlyIlePhePheTrpIlePheAlaAsnGlySerTyrArgValThrGlyAspLeuAlaGlyTrpIleIleTyrAlaLeuGlyArgValGluValThrAlaLysLysTrpTyrThrLeuThrLeuThrIleLysGlyHisPheThrSerGlyMetLeuAsnAspLysSerLeuTrpThrAspIleProValAsnPheProLysAsnGlyTrpAlaAlaIleGlyThrHisSerPheGluPheAlaGlnPheAspAsnPheLeuValGluAlaThrArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714058"
    }
  ],
  "type": "nucleotide"
}