{
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  "communityStandardTitle": [
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    {
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    {
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      "hgvs": [
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        "hgvsWellDefined": "ENSP00000264381.3:p.[Leu346_Val347delinsValLeu;Asn350_Glu353delinsPhe;Thr355_Phe357delinsTrpTrpVal;Val359_Pro363delinsIleLysMetLys;Phe365_Arg375delinsGlnLeuPhe]"
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    {
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      "gene": "http://reg.genome.network/gene/GN000983",
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      "hgvs": [
        "ENST00000479451.5:c.107+7315_107+7316insGTGTTGGGTGTGTTTGG"
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    {
      "coordinates": [
        {
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      "gene": "http://reg.genome.network/gene/GN000983",
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        "ENST00000482958.1:c.1035_1036insGTGTTGGGTGTGTTTGG"
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        "hgvsWellDefined": "ENSP00000419804.1:p.[Leu346_Val347delinsValLeu;Asn350_Glu353delinsPhe;Thr355_Phe357delinsTrpTrpVal;Val359_Pro363delinsIleLysMetLys;Phe365_Arg375delinsGlnLeuPhe]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS322538"
    },
    {
      "coordinates": [
        {
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      "gene": "http://reg.genome.network/gene/GN000983",
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      "hgvs": [
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        "hgvs": "ENSP00000418504.1:n.107+7315_107+7316insGTGTTGGGTGTGTTTGG"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS327115"
    },
    {
      "coordinates": [
        {
          "allele": "GTGTTGGGTGTGTTTGG",
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          "referenceAllele": "",
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      ],
      "gene": "http://reg.genome.network/gene/GN000983",
      "geneNCBI_id": 590,
      "geneSymbol": "BCHE",
      "hgvs": [
        "ENST00000497011.5:c.1035_1036insGTGTTGGGTGTGTTTGG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419505.1:p.Leu346ValfsTer19",
        "hgvsWellDefined": "ENSP00000419505.1:p.[Leu346_Val347delinsValLeu;Asn350_Glu353delinsPhe;Thr355_Phe357delinsTrpTrpVal;Val359_Pro363delinsIleLysMetLys;Phe365_Arg375delinsGlnLeuPhe]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS333345"
    },
    {
      "coordinates": [
        {
          "allele": "GTGTTGGGTGTGTTTGG",
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          "referenceAllele": "",
          "start": 1195
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      ],
      "gene": "http://reg.genome.network/gene/GN000983",
      "geneNCBI_id": 590,
      "geneSymbol": "BCHE",
      "hgvs": [
        "NM_000055.2:c.1035_1036insGTGTTGGGTGTGTTTGG"
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      "proteinEffect": {
        "hgvs": "NP_000046.1:p.Leu346ValfsTer19",
        "hgvsWellDefined": "NP_000046.1:p.[Leu346_Val347delinsValLeu;Asn350_Glu353delinsPhe;Thr355_Phe357delinsTrpTrpVal;Val359_Pro363delinsIleLysMetLys;Phe365_Arg375delinsGlnLeuPhe]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006120"
    },
    {
      "coordinates": [
        {
          "allele": "GTGTTGGGTGTGTTTGG",
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          "referenceAllele": "",
          "start": 1202
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      "gene": "http://reg.genome.network/gene/GN000983",
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      "geneSymbol": "BCHE",
      "hgvs": [
        "XM_005247685.1:c.1158_1159insGTGTTGGGTGTGTTTGG"
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      "proteinEffect": {
        "hgvs": "XP_005247742.1:p.Leu387ValfsTer19",
        "hgvsWellDefined": "XP_005247742.1:p.[Leu387_Val388delinsValLeu;Asn391_Glu394delinsPhe;Thr396_Phe398delinsTrpTrpVal;Val400_Pro404delinsIleLysMetLys;Phe406_Arg416delinsGlnLeuPhe]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058152"
    },
    {
      "coordinates": [
        {
          "allele": "GTGTTGGGTGTGTTTGG",
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          "referenceAllele": "",
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      "gene": "http://reg.genome.network/gene/GN000983",
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      "geneSymbol": "BCHE",
      "hgvs": [
        "NM_000055.3:c.1035_1036insGTGTTGGGTGTGTTTGG"
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      "proteinEffect": {
        "hgvs": "NP_000046.1:p.Leu346ValfsTer19",
        "hgvsWellDefined": "NP_000046.1:p.[Leu346_Val347delinsValLeu;Asn350_Glu353delinsPhe;Thr355_Phe357delinsTrpTrpVal;Val359_Pro363delinsIleLysMetLys;Phe365_Arg375delinsGlnLeuPhe]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510746"
    },
    {
      "coordinates": [
        {
          "allele": "GTGTTGGGTGTGTTTGG",
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          "endIntronDirection": "+",
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      "gene": "http://reg.genome.network/gene/GN000983",
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      "hgvs": [
        "NR_137635.1:n.159+7315_159+7316insGTGTTGGGTGTGTTTGG"
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      "referenceSequence": "http://reg.genome.network/refseq/RS529096"
    },
    {
      "coordinates": [
        {
          "allele": "GTGTTGGGTGTGTTTGG",
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          "referenceAllele": "",
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      "gene": "http://reg.genome.network/gene/GN000983",
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        "NR_137636.1:n.1202_1203insGTGTTGGGTGTGTTTGG"
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      "referenceSequence": "http://reg.genome.network/refseq/RS529097"
    },
    {
      "coordinates": [
        {
          "allele": "GTGTTGGGTGTGTTTGG",
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      ],
      "gene": "http://reg.genome.network/gene/GN000983",
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        "NM_000055.4:c.1035_1036insGTGTTGGGTGTGTTTGG"
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        "hgvsWellDefined": "NP_000046.1:p.[Leu346_Val347delinsValLeu;Asn350_Glu353delinsPhe;Thr355_Phe357delinsTrpTrpVal;Val359_Pro363delinsIleLysMetLys;Phe365_Arg375delinsGlnLeuPhe]"
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      "referenceSequence": "http://reg.genome.network/refseq/RS662303",
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          "RefSeq": {
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        }
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      "coordinates": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS703980"
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    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS703981"
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  "type": "nucleotide"
}