{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA401225611",
  "communityStandardTitle": [
    "NM_001127198.5(TMC6):c.2033C>A (p.Ser678Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1458052[alleleid]",
        "alleleId": 1458052,
        "preferredName": "NM_001127198.5(TMC6):c.2033C>A (p.Ser678Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1456110",
        "RCV": [
          "RCV001950983"
        ],
        "variationId": 1456110
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.76113714G>T?assembly=hg19",
        "id": "chr17:g.76113714G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.78117633G>T?assembly=hg38",
        "id": "chr17:g.78117633G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/749657465",
        "rs": 749657465
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-76113714-G-T?dataset=gnomad_r2_1",
        "id": "17-76113714-G-T",
        "variant": "17:76113714 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-78117633-G-T?dataset=gnomad_r4",
        "id": "17-78117633-G-T",
        "variant": "17:78117633 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 78117633,
          "referenceAllele": "G",
          "start": 78117632
        }
      ],
      "hgvs": [
        "NC_000017.11:g.78117633G>T",
        "CM000679.2:g.78117633G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 76113714,
          "referenceAllele": "G",
          "start": 76113713
        }
      ],
      "hgvs": [
        "NC_000017.10:g.76113714G>T",
        "CM000679.1:g.76113714G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 73625309,
          "referenceAllele": "G",
          "start": 73625308
        }
      ],
      "hgvs": [
        "NC_000017.9:g.73625309G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 19775,
          "referenceAllele": "C",
          "start": 19774
        }
      ],
      "hgvs": [
        "NG_007879.1:g.19775C>A",
        "LRG_118:g.19775C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000687"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2281,
          "referenceAllele": "C",
          "start": 2280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018021",
      "geneNCBI_id": 11322,
      "geneSymbol": "TMC6",
      "hgvs": [
        "ENST00000589271.6:c.2033C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468255.2:p.Ser678Ter",
        "hgvsWellDefined": "ENSP00000468255.2:p.Ser679_Ala805delinsThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906091"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2319,
          "referenceAllele": "C",
          "start": 2318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018021",
      "geneNCBI_id": 11322,
      "geneSymbol": "TMC6",
      "hgvs": [
        "ENST00000592063.6:c.2033C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466885.2:p.Ser678Ter",
        "hgvsWellDefined": "ENSP00000466885.2:p.Ser679_Ala805delinsThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906111"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 73,
          "endIntronDirection": "+",
          "endIntronOffset": 1338,
          "referenceAllele": "C",
          "start": 73,
          "startIntronDirection": "+",
          "startIntronOffset": 1337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018021",
      "geneNCBI_id": 11322,
      "geneSymbol": "TMC6",
      "hgvs": [
        "ENST00000698544.1:n.73+1338C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909501"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1510,
          "referenceAllele": "C",
          "start": 1509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018021",
      "geneNCBI_id": 11322,
      "geneSymbol": "TMC6",
      "hgvs": [
        "ENST00000698545.1:n.1510C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909502"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2175,
          "referenceAllele": "C",
          "start": 2174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018021",
      "geneNCBI_id": 11322,
      "geneSymbol": "TMC6",
      "hgvs": [
        "ENST00000698546.1:c.*1855C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513789.1:n.*1855C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909503"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2128,
          "referenceAllele": "C",
          "start": 2127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018021",
      "geneNCBI_id": 11322,
      "geneSymbol": "TMC6",
      "hgvs": [
        "ENST00000698547.1:c.*1351C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513790.1:n.*1351C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909504"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2054,
          "referenceAllele": "C",
          "start": 2053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018021",
      "geneNCBI_id": 11322,
      "geneSymbol": "TMC6",
      "hgvs": [
        "ENST00000698548.1:c.1853C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513791.1:p.Ser618Ter",
        "hgvsWellDefined": "ENSP00000513791.1:p.Ser619_Ala745delinsThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909505"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2143,
          "referenceAllele": "C",
          "start": 2142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018021",
      "geneNCBI_id": 11322,
      "geneSymbol": "TMC6",
      "hgvs": [
        "ENST00000698549.1:c.*1855C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513792.1:n.*1855C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909506"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2247,
          "referenceAllele": "C",
          "start": 2246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018021",
      "geneNCBI_id": 11322,
      "geneSymbol": "TMC6",
      "hgvs": [
        "ENST00000698550.1:c.2033C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513793.1:p.Ser678Ter",
        "hgvsWellDefined": "ENSP00000513793.1:p.Ser679_Ala805delinsThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909507"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2113,
          "referenceAllele": "C",
          "start": 2112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018021",
      "geneNCBI_id": 11322,
      "geneSymbol": "TMC6",
      "hgvs": [
        "ENST00000698551.1:c.1899C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513794.1:p.Leu633="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909508"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2251,
          "referenceAllele": "C",
          "start": 2250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018021",
      "geneNCBI_id": 11322,
      "geneSymbol": "TMC6",
      "hgvs": [
        "ENST00000590602.6:c.2033C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465261.1:p.Ser678Ter",
        "hgvsWellDefined": "ENSP00000465261.1:p.Ser679_Ala805delinsThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761208",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000590602.6:c.2033C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001127198.5:c.2033C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000465261.1:p.Ser678Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001120670.1:p.Ser678Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1320,
          "endIntronDirection": "-",
          "endIntronOffset": 4011,
          "referenceAllele": "C",
          "start": 1320,
          "startIntronDirection": "-",
          "startIntronOffset": 4012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018021",
      "geneNCBI_id": 11322,
      "geneSymbol": "TMC6",
      "hgvs": [
        "ENST00000306591.11:c.1228-4012C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000306405.6:n.1228-4012C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255758"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2174,
          "referenceAllele": "C",
          "start": 2173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018021",
      "geneNCBI_id": 11322,
      "geneSymbol": "TMC6",
      "hgvs": [
        "ENST00000322914.7:c.2033C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000313408.2:p.Ser678Ter",
        "hgvsWellDefined": "ENSP00000313408.2:p.Ser679_Ala805delinsThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258141"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2221,
          "referenceAllele": "C",
          "start": 2220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018021",
      "geneNCBI_id": 11322,
      "geneSymbol": "TMC6",
      "hgvs": [
        "ENST00000392467.7:c.2033C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376260.2:p.Ser678Ter",
        "hgvsWellDefined": "ENSP00000376260.2:p.Ser679_Ala805delinsThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275110"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 383,
          "referenceAllele": "C",
          "start": 382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018021",
      "geneNCBI_id": 11322,
      "geneSymbol": "TMC6",
      "hgvs": [
        "ENST00000589933.1:n.383C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS391839"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2193,
          "referenceAllele": "C",
          "start": 2192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018021",
      "geneNCBI_id": 11322,
      "geneSymbol": "TMC6",
      "hgvs": [
        "ENST00000590602.5:c.2033C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465261.1:p.Ser678Ter",
        "hgvsWellDefined": "ENSP00000465261.1:p.Ser679_Ala805delinsThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392304"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 770,
          "referenceAllele": "C",
          "start": 769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018021",
      "geneNCBI_id": 11322,
      "geneSymbol": "TMC6",
      "hgvs": [
        "ENST00000591436.5:c.770C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464853.1:p.Ser257Ter",
        "hgvsWellDefined": "ENSP00000464853.1:p.Ser258_Ala384delinsThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392867"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 323,
          "endIntronDirection": "-",
          "endIntronOffset": 4008,
          "referenceAllele": "C",
          "start": 323,
          "startIntronDirection": "-",
          "startIntronOffset": 4009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018021",
      "geneNCBI_id": 11322,
      "geneSymbol": "TMC6",
      "hgvs": [
        "ENST00000592076.5:n.324-4009C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS393314"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2613,
          "referenceAllele": "C",
          "start": 2612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018021",
      "geneNCBI_id": 11322,
      "geneSymbol": "TMC6",
      "hgvs": [
        "ENST00000593044.5:n.2613C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS393975"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825629132",
      "coordinates": [
        {
          "allele": "A",
          "end": 2276,
          "referenceAllele": "C",
          "start": 2275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018021",
      "geneNCBI_id": 11322,
      "geneSymbol": "TMC6",
      "hgvs": [
        "NM_001127198.1:c.2033C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120670.1:p.Ser678Ter",
        "hgvsWellDefined": "NP_001120670.1:p.Ser679_Ala805delinsThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011536"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573252401",
      "coordinates": [
        {
          "allele": "A",
          "end": 2174,
          "referenceAllele": "C",
          "start": 2173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018021",
      "geneNCBI_id": 11322,
      "geneSymbol": "TMC6",
      "hgvs": [
        "NM_007267.6:c.2033C>A",
        "LRG_118t1:c.2033C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_009198.4:p.Ser678Ter",
        "hgvsWellDefined": "NP_009198.4:p.Ser679_Ala805delinsThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032188"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2319,
          "referenceAllele": "C",
          "start": 2318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018021",
      "geneNCBI_id": 11322,
      "geneSymbol": "TMC6",
      "hgvs": [
        "XM_005256995.1:c.2033C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257052.1:p.Ser678Ter",
        "hgvsWellDefined": "XP_005257052.1:p.Ser679_Ala805delinsThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061527"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2221,
          "referenceAllele": "C",
          "start": 2220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018021",
      "geneNCBI_id": 11322,
      "geneSymbol": "TMC6",
      "hgvs": [
        "XM_005256996.1:c.2033C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257053.1:p.Ser678Ter",
        "hgvsWellDefined": "XP_005257053.1:p.Ser679_Ala805delinsThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061528"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2041,
          "referenceAllele": "C",
          "start": 2040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018021",
      "geneNCBI_id": 11322,
      "geneSymbol": "TMC6",
      "hgvs": [
        "XM_005256997.1:c.1853C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257054.1:p.Ser618Ter",
        "hgvsWellDefined": "XP_005257054.1:p.Ser619_Ala745delinsThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061529"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1880,
          "referenceAllele": "C",
          "start": 1879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018021",
      "geneNCBI_id": 11322,
      "geneSymbol": "TMC6",
      "hgvs": [
        "XM_005256998.1:c.1352C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257055.1:p.Ser451Ter",
        "hgvsWellDefined": "XP_005257055.1:p.Ser452_Ala578delinsThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061530"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2221,
          "referenceAllele": "C",
          "start": 2220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018021",
      "geneNCBI_id": 11322,
      "geneSymbol": "TMC6",
      "hgvs": [
        "XM_011524255.1:c.2033C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522557.1:p.Ser678Ter",
        "hgvsWellDefined": "XP_011522557.1:p.Ser679_Ala805delinsThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091383"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2095,
          "referenceAllele": "C",
          "start": 2094
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018021",
      "geneNCBI_id": 11322,
      "geneSymbol": "TMC6",
      "hgvs": [
        "XM_011524256.1:c.1907C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522558.1:p.Ser636Ter",
        "hgvsWellDefined": "XP_011522558.1:p.Ser637_Ala763delinsThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091384"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1363,
          "referenceAllele": "C",
          "start": 1362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018021",
      "geneNCBI_id": 11322,
      "geneSymbol": "TMC6",
      "hgvs": [
        "XM_011524257.1:c.1223C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522559.1:p.Ser408Ter",
        "hgvsWellDefined": "XP_011522559.1:p.Ser409_Ala535delinsThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091385"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1415,
          "endIntronDirection": "-",
          "endIntronOffset": 4008,
          "referenceAllele": "C",
          "start": 1415,
          "startIntronDirection": "-",
          "startIntronOffset": 4009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018021",
      "geneNCBI_id": 11322,
      "geneSymbol": "TMC6",
      "hgvs": [
        "XM_011524258.1:c.1228-4009C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522560.1:n.1228-4009C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091386"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2087,
          "referenceAllele": "C",
          "start": 2086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018021",
      "geneNCBI_id": 11322,
      "geneSymbol": "TMC6",
      "hgvs": [
        "XR_243632.1:n.2087C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116571"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825629132",
      "coordinates": [
        {
          "allele": "A",
          "end": 2290,
          "referenceAllele": "C",
          "start": 2289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018021",
      "geneNCBI_id": 11322,
      "geneSymbol": "TMC6",
      "hgvs": [
        "NM_001127198.2:c.2033C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120670.1:p.Ser678Ter",
        "hgvsWellDefined": "NP_001120670.1:p.Ser679_Ala805delinsThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511401"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827083303",
      "coordinates": [
        {
          "allele": "A",
          "end": 2243,
          "referenceAllele": "C",
          "start": 2242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018021",
      "geneNCBI_id": 11322,
      "geneSymbol": "TMC6",
      "hgvs": [
        "NM_001321185.1:c.2033C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308114.1:p.Ser678Ter",
        "hgvsWellDefined": "NP_001308114.1:p.Ser679_Ala805delinsThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514101"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573252401",
      "coordinates": [
        {
          "allele": "A",
          "end": 2194,
          "referenceAllele": "C",
          "start": 2193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018021",
      "geneNCBI_id": 11322,
      "geneSymbol": "TMC6",
      "hgvs": [
        "NM_007267.7:c.2033C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_009198.4:p.Ser678Ter",
        "hgvsWellDefined": "NP_009198.4:p.Ser679_Ala805delinsThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525475"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1340,
          "referenceAllele": "C",
          "start": 1339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018021",
      "geneNCBI_id": 11322,
      "geneSymbol": "TMC6",
      "hgvs": [
        "XM_011524257.3:c.1223C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522559.1:p.Ser408Ter",
        "hgvsWellDefined": "XP_011522559.1:p.Ser409_Ala535delinsThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547392"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2088,
          "referenceAllele": "C",
          "start": 2087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018021",
      "geneNCBI_id": 11322,
      "geneSymbol": "TMC6",
      "hgvs": [
        "XM_017024107.1:c.1853C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879596.1:p.Ser618Ter",
        "hgvsWellDefined": "XP_016879596.1:p.Ser619_Ala745delinsThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574737"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2041,
          "referenceAllele": "C",
          "start": 2040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018021",
      "geneNCBI_id": 11322,
      "geneSymbol": "TMC6",
      "hgvs": [
        "XM_017024108.1:c.1853C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879597.1:p.Ser618Ter",
        "hgvsWellDefined": "XP_016879597.1:p.Ser619_Ala745delinsThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574738"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2281,
          "referenceAllele": "C",
          "start": 2280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018021",
      "geneNCBI_id": 11322,
      "geneSymbol": "TMC6",
      "hgvs": [
        "XM_024450555.1:c.2033C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306323.1:p.Ser678Ter",
        "hgvsWellDefined": "XP_024306323.1:p.Ser679_Ala805delinsThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584089"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2392,
          "referenceAllele": "C",
          "start": 2391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018021",
      "geneNCBI_id": 11322,
      "geneSymbol": "TMC6",
      "hgvs": [
        "XM_024450556.1:c.2033C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306324.1:p.Ser678Ter",
        "hgvsWellDefined": "XP_024306324.1:p.Ser679_Ala805delinsThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584090"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2085,
          "referenceAllele": "C",
          "start": 2084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018021",
      "geneNCBI_id": 11322,
      "geneSymbol": "TMC6",
      "hgvs": [
        "XM_024450557.1:c.1352C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306325.1:p.Ser451Ter",
        "hgvsWellDefined": "XP_024306325.1:p.Ser452_Ala578delinsThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584091"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2221,
          "referenceAllele": "C",
          "start": 2220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018021",
      "geneNCBI_id": 11322,
      "geneSymbol": "TMC6",
      "hgvs": [
        "XR_001752420.1:n.2221C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599126"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825629132",
      "coordinates": [
        {
          "allele": "A",
          "end": 2251,
          "referenceAllele": "C",
          "start": 2250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018021",
      "geneNCBI_id": 11322,
      "geneSymbol": "TMC6",
      "hgvs": [
        "NM_001127198.5:c.2033C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120670.1:p.Ser678Ter",
        "hgvsWellDefined": "NP_001120670.1:p.Ser679_Ala805delinsThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676849",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000590602.6:c.2033C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001127198.5:c.2033C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000465261.1:p.Ser678Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001120670.1:p.Ser678Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828528892",
      "coordinates": [
        {
          "allele": "A",
          "end": 2071,
          "referenceAllele": "C",
          "start": 2070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018021",
      "geneNCBI_id": 11322,
      "geneSymbol": "TMC6",
      "hgvs": [
        "NM_001374593.1:c.1853C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361522.1:p.Ser618Ter",
        "hgvsWellDefined": "NP_001361522.1:p.Ser619_Ala745delinsThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693328"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828529373",
      "coordinates": [
        {
          "allele": "A",
          "end": 2024,
          "referenceAllele": "C",
          "start": 2023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018021",
      "geneNCBI_id": 11322,
      "geneSymbol": "TMC6",
      "hgvs": [
        "NM_001374594.1:c.1853C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361523.1:p.Ser618Ter",
        "hgvsWellDefined": "NP_001361523.1:p.Ser619_Ala745delinsThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693329"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828585162",
      "coordinates": [
        {
          "allele": "A",
          "end": 2272,
          "referenceAllele": "C",
          "start": 2271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018021",
      "geneNCBI_id": 11322,
      "geneSymbol": "TMC6",
      "hgvs": [
        "NM_001375353.1:c.2033C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362282.1:p.Ser678Ter",
        "hgvsWellDefined": "NP_001362282.1:p.Ser679_Ala805delinsThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693493"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828585664",
      "coordinates": [
        {
          "allele": "A",
          "end": 2319,
          "referenceAllele": "C",
          "start": 2318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018021",
      "geneNCBI_id": 11322,
      "geneSymbol": "TMC6",
      "hgvs": [
        "NM_001375354.1:c.2033C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362283.1:p.Ser678Ter",
        "hgvsWellDefined": "NP_001362283.1:p.Ser679_Ala805delinsThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693494"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828529879",
      "coordinates": [
        {
          "allele": "A",
          "end": 2272,
          "referenceAllele": "C",
          "start": 2271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018021",
      "geneNCBI_id": 11322,
      "geneSymbol": "TMC6",
      "hgvs": [
        "NM_001374596.1:c.2033C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361525.1:p.Ser678Ter",
        "hgvsWellDefined": "NP_001361525.1:p.Ser679_Ala805delinsThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721209"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2251,
          "referenceAllele": "C",
          "start": 2250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018021",
      "geneNCBI_id": 11322,
      "geneSymbol": "TMC6",
      "hgvs": [
        "NR_168288.1:n.2251C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731925"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2251,
          "referenceAllele": "C",
          "start": 2250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018021",
      "geneNCBI_id": 11322,
      "geneSymbol": "TMC6",
      "hgvs": [
        "NR_168289.1:n.2251C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731926"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2154,
          "referenceAllele": "C",
          "start": 2153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018021",
      "geneNCBI_id": 11322,
      "geneSymbol": "TMC6",
      "hgvs": [
        "NR_168290.1:n.2154C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731927"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2204,
          "referenceAllele": "C",
          "start": 2203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018021",
      "geneNCBI_id": 11322,
      "geneSymbol": "TMC6",
      "hgvs": [
        "NR_168291.1:n.2204C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731928"
    }
  ],
  "type": "nucleotide"
}