{
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  "@id": "http://reg.genome.network/allele/CA353561834",
  "communityStandardTitle": [
    "NM_001354604.2(MITF):c.1022C>G (p.Ser341Ter)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/504220",
        "RCV": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS748483",
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      "referenceSequence": "http://reg.genome.network/refseq/RS756165"
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        "ENST00000394351.7:c.701C>G"
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      "referenceSequence": "http://reg.genome.network/refseq/RS299629"
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      "referenceSequence": "http://reg.genome.network/refseq/RS319090"
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      "referenceSequence": "http://reg.genome.network/refseq/RS006310"
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      "referenceSequence": "http://reg.genome.network/refseq/RS016055"
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      "@id": "http://reg.genome.network/allele/PA2830431298",
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      "referenceSequence": "http://reg.genome.network/refseq/RS044446"
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    {
      "@id": "http://reg.genome.network/allele/PA2830431896",
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      "referenceSequence": "http://reg.genome.network/refseq/RS044447"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830432907",
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      ],
      "gene": "http://reg.genome.network/gene/GN007105",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044451"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830433434",
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        {
          "allele": "G",
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044452"
    },
    {
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS064358"
    },
    {
      "coordinates": [
        {
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        }
      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064359"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070030"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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      ],
      "gene": "http://reg.genome.network/gene/GN007105",
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      "hgvs": [
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100743"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1023,
          "referenceAllele": "C",
          "start": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "XM_011533723.1:c.971C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532025.1:p.Ser324Ter",
        "hgvsWellDefined": "XP_011532025.1:p.Ser324_Cys509delinsAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100744"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1050,
          "referenceAllele": "C",
          "start": 1049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "XM_011533724.1:c.866C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532026.1:p.Ser289Ter",
        "hgvsWellDefined": "XP_011532026.1:p.Ser289_Cys474delinsAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100745"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1017,
          "referenceAllele": "C",
          "start": 1016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "XM_011533725.1:c.854C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532027.1:p.Ser285Ter",
        "hgvsWellDefined": "XP_011532027.1:p.Ser285_Cys470delinsAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100746"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 999,
          "referenceAllele": "C",
          "start": 998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "XM_011533726.1:c.836C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532028.1:p.Ser279Ter",
        "hgvsWellDefined": "XP_011532028.1:p.Ser279_Cys464delinsAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100747"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916038023",
      "coordinates": [
        {
          "allele": "G",
          "end": 1185,
          "referenceAllele": "C",
          "start": 1184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001354604.1:c.1022C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341533.1:p.Ser341Ter",
        "hgvsWellDefined": "NP_001341533.1:p.Ser341_Cys526delinsAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522548"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827881639",
      "coordinates": [
        {
          "allele": "G",
          "end": 1182,
          "referenceAllele": "C",
          "start": 1181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001354605.1:c.1019C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341534.1:p.Ser340Ter",
        "hgvsWellDefined": "NP_001341534.1:p.Ser340_Cys525delinsAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522549"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827882008",
      "coordinates": [
        {
          "allele": "G",
          "end": 1164,
          "referenceAllele": "C",
          "start": 1163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001354606.1:c.1001C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341535.1:p.Ser334Ter",
        "hgvsWellDefined": "NP_001341535.1:p.Ser334_Cys519delinsAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522550"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827882375",
      "coordinates": [
        {
          "allele": "G",
          "end": 1296,
          "referenceAllele": "C",
          "start": 1295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001354607.1:c.953C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341536.1:p.Ser318Ter",
        "hgvsWellDefined": "NP_001341536.1:p.Ser318_Cys503delinsAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522551"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827882722",
      "coordinates": [
        {
          "allele": "G",
          "end": 1206,
          "referenceAllele": "C",
          "start": 1205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001354608.1:c.848C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341537.1:p.Ser283Ter",
        "hgvsWellDefined": "NP_001341537.1:p.Ser283_Cys468delinsAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522552"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826151407",
      "coordinates": [
        {
          "allele": "G",
          "end": 1089,
          "referenceAllele": "C",
          "start": 1088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001184967.2:c.848C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171896.1:p.Ser283Ter",
        "hgvsWellDefined": "NP_001171896.1:p.Ser283_Cys468delinsAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679051"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916038023",
      "coordinates": [
        {
          "allele": "G",
          "end": 1156,
          "referenceAllele": "C",
          "start": 1155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001354604.2:c.1022C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341533.1:p.Ser341Ter",
        "hgvsWellDefined": "NP_001341533.1:p.Ser341_Cys526delinsAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690248",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000352241.9:c.1022C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001354604.2:c.1022C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295600.8:p.Ser341Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001341533.1:p.Ser341Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827881639",
      "coordinates": [
        {
          "allele": "G",
          "end": 1153,
          "referenceAllele": "C",
          "start": 1152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001354605.2:c.1019C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341534.1:p.Ser340Ter",
        "hgvsWellDefined": "NP_001341534.1:p.Ser340_Cys525delinsAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690249"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827882008",
      "coordinates": [
        {
          "allele": "G",
          "end": 1135,
          "referenceAllele": "C",
          "start": 1134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001354606.2:c.1001C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341535.1:p.Ser334Ter",
        "hgvsWellDefined": "NP_001341535.1:p.Ser334_Cys519delinsAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690250"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827882375",
      "coordinates": [
        {
          "allele": "G",
          "end": 1267,
          "referenceAllele": "C",
          "start": 1266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001354607.2:c.953C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341536.1:p.Ser318Ter",
        "hgvsWellDefined": "NP_001341536.1:p.Ser318_Cys503delinsAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690251"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827882722",
      "coordinates": [
        {
          "allele": "G",
          "end": 1177,
          "referenceAllele": "C",
          "start": 1176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001354608.2:c.848C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341537.1:p.Ser283Ter",
        "hgvsWellDefined": "NP_001341537.1:p.Ser283_Cys468delinsAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690252"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830431298",
      "coordinates": [
        {
          "allele": "G",
          "end": 814,
          "referenceAllele": "C",
          "start": 813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_198158.3:c.683C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_937801.1:p.Ser228Ter",
        "hgvsWellDefined": "NP_937801.1:p.Ser228_Cys413delinsAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701263"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830431896",
      "coordinates": [
        {
          "allele": "G",
          "end": 1138,
          "referenceAllele": "C",
          "start": 1137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_198159.3:c.1004C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_937802.1:p.Ser335Ter",
        "hgvsWellDefined": "NP_937802.1:p.Ser335_Cys520delinsAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701264"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830432907",
      "coordinates": [
        {
          "allele": "G",
          "end": 1023,
          "referenceAllele": "C",
          "start": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_198177.3:c.956C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_937820.1:p.Ser319Ter",
        "hgvsWellDefined": "NP_937820.1:p.Ser319_Cys504delinsAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701267"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830433434",
      "coordinates": [
        {
          "allele": "G",
          "end": 646,
          "referenceAllele": "C",
          "start": 645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_198178.3:c.515C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_937821.2:p.Ser172Ter",
        "hgvsWellDefined": "NP_937821.2:p.Ser172_Cys357delinsAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701268"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658803605",
      "coordinates": [
        {
          "allele": "G",
          "end": 832,
          "referenceAllele": "C",
          "start": 831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_000248.4:c.701C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000239.1:p.Ser234Ter",
        "hgvsWellDefined": "NP_000239.1:p.Ser234_Cys419delinsAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710814",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394351.9:c.701C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000248.4:c.701C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377880.3:p.Ser234Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000239.1:p.Ser234Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829651266",
      "coordinates": [
        {
          "allele": "G",
          "end": 1032,
          "referenceAllele": "C",
          "start": 1031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_006722.3:c.1001C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_006713.1:p.Ser334Ter",
        "hgvsWellDefined": "NP_006713.1:p.Ser334_Cys519delinsAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727772"
    }
  ],
  "type": "nucleotide"
}