{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2262106937",
  "communityStandardTitle": [
    "NM_001377265.1(MAPT):c.2392C= (p.Arg798=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/63750424",
        "rs": 63750424
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 46024061,
          "referenceAllele": "C",
          "start": 46024060
        }
      ],
      "hgvs": [
        "NC_000017.11:g.46024061C=",
        "CM000679.2:g.46024061C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 44101427,
          "referenceAllele": "C",
          "start": 44101426
        }
      ],
      "hgvs": [
        "NC_000017.10:g.44101427C=",
        "CM000679.1:g.44101427C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 41457272,
          "referenceAllele": "C",
          "start": 41457271
        }
      ],
      "hgvs": [
        "NC_000017.9:g.41457272C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 134649,
          "referenceAllele": "C",
          "start": 134648
        }
      ],
      "hgvs": [
        "NG_007398.1:g.134649C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000566"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 134599,
          "referenceAllele": "C",
          "start": 134598
        }
      ],
      "hgvs": [
        "NG_007398.2:g.134599C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706072"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1273,
          "referenceAllele": "C",
          "start": 1272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "ENST00000420682.7:c.1129C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000413056.2:p.Arg377="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904760"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1306,
          "referenceAllele": "C",
          "start": 1305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "ENST00000703922.1:c.1129C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515557.1:p.Arg377="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS912035"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1219,
          "referenceAllele": "C",
          "start": 1218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "ENST00000703923.1:c.1042C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515558.1:p.Arg348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS912036"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1306,
          "referenceAllele": "C",
          "start": 1305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "ENST00000703924.1:c.1129C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515559.1:p.Arg377="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS912037"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1254,
          "referenceAllele": "C",
          "start": 1253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "ENST00000703978.1:c.1216C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515600.1:p.Arg406="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS912091"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 442,
          "referenceAllele": "C",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "ENST00000703980.1:n.442C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS912093"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 400,
          "referenceAllele": "C",
          "start": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "ENST00000703981.1:n.400C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS912094"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 634,
          "referenceAllele": "C",
          "start": 633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "ENST00000703982.1:n.634C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS912095"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2542,
          "referenceAllele": "C",
          "start": 2541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "ENST00000262410.10:c.2392C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262410.6:p.Arg798="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742336",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262410.10:c.2392C="
          },
          "RefSeq": {
            "hgvs": "NM_001377265.1:c.2392C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262410.6:p.Arg798="
          },
          "RefSeq": {
            "hgvs": "NP_001364194.1:p.Arg798="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2245,
          "referenceAllele": "C",
          "start": 2244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "ENST00000344290.10:c.2101C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340820.6:p.Arg701="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748202"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1366,
          "referenceAllele": "C",
          "start": 1365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "ENST00000351559.10:c.1216C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303214.7:p.Arg406="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748467"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1189,
          "referenceAllele": "C",
          "start": 1188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "ENST00000535772.6:c.1036C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443028.2:p.Arg346="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759458"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1323,
          "referenceAllele": "C",
          "start": 1322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "ENST00000680542.1:c.1129C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505258.1:p.Arg377="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780158"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1342,
          "referenceAllele": "C",
          "start": 1341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "ENST00000680674.1:c.1165C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505478.1:p.Arg389="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780289"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2489,
          "referenceAllele": "C",
          "start": 2488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "ENST00000262410.9:c.2167C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262410.5:p.Arg723="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251010"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 985,
          "referenceAllele": "C",
          "start": 984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "ENST00000334239.12:c.949C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000334886.8:p.Arg317="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259866"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1451,
          "referenceAllele": "C",
          "start": 1450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "ENST00000340799.9:c.1129C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340438.5:p.Arg377="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261172"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2543,
          "referenceAllele": "C",
          "start": 2542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "ENST00000344290.9:c.2221C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340820.5:p.Arg741="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261938"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1538,
          "referenceAllele": "C",
          "start": 1537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "ENST00000351559.9:c.1216C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303214.7:p.Arg406="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262786"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2221,
          "referenceAllele": "C",
          "start": 2220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "ENST00000415613.6:c.2221C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410838.2:p.Arg741="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS284070"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1129,
          "referenceAllele": "C",
          "start": 1128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "ENST00000420682.6:c.1129C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000413056.2:p.Arg377="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286430"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1123,
          "referenceAllele": "C",
          "start": 1122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "ENST00000431008.7:c.1123C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389250.3:p.Arg375="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291413"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1072,
          "referenceAllele": "C",
          "start": 1071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "ENST00000446361.7:c.1042C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408975.3:p.Arg348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS298698"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1445,
          "referenceAllele": "C",
          "start": 1444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "ENST00000535772.5:c.1123C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443028.1:p.Arg375="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359918"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2167,
          "referenceAllele": "C",
          "start": 2166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "ENST00000571987.5:c.2167C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458742.1:p.Arg723="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382735"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1216,
          "referenceAllele": "C",
          "start": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "ENST00000574436.5:c.1216C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460965.1:p.Arg406="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS383685"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6408,
          "referenceAllele": "C",
          "start": 6407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "ENST00000576518.1:n.6408C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS384509"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2543,
          "referenceAllele": "C",
          "start": 2542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "NM_001123066.3:c.2221C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001116538.2:p.Arg741="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011439"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1451,
          "referenceAllele": "C",
          "start": 1450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "NM_001123067.3:c.1129C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001116539.1:p.Arg377="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011440"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1358,
          "referenceAllele": "C",
          "start": 1357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "NM_001203251.1:c.1036C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001190180.1:p.Arg346="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017467"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1445,
          "referenceAllele": "C",
          "start": 1444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "NM_001203252.1:c.1123C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001190181.1:p.Arg375="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017468"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083962994",
      "coordinates": [
        {
          "allele": "C",
          "end": 1538,
          "referenceAllele": "C",
          "start": 1537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "NM_005910.5:c.1216C="
      ],
      "proteinEffect": {
        "hgvs": "NP_005901.2:p.Arg406="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030966"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1364,
          "referenceAllele": "C",
          "start": 1363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "NM_016834.4:c.1042C="
      ],
      "proteinEffect": {
        "hgvs": "NP_058518.1:p.Arg348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034886"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2489,
          "referenceAllele": "C",
          "start": 2488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "NM_016835.4:c.2167C="
      ],
      "proteinEffect": {
        "hgvs": "NP_058519.3:p.Arg723="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034887"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1271,
          "referenceAllele": "C",
          "start": 1270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "NM_016841.4:c.949C="
      ],
      "proteinEffect": {
        "hgvs": "NP_058525.1:p.Arg317="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034889"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2581,
          "referenceAllele": "C",
          "start": 2580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "XM_005257362.3:c.2479C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005257419.1:p.Arg827="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061663"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2494,
          "referenceAllele": "C",
          "start": 2493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "XM_005257364.3:c.2392C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005257421.1:p.Arg798="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061664"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2488,
          "referenceAllele": "C",
          "start": 2487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "XM_005257365.3:c.2386C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005257422.1:p.Arg796="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061665"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2449,
          "referenceAllele": "C",
          "start": 2448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "XM_005257366.2:c.2305C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005257423.1:p.Arg769="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061666"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2383,
          "referenceAllele": "C",
          "start": 2382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "XM_005257367.3:c.2281C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005257424.1:p.Arg761="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061667"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2290,
          "referenceAllele": "C",
          "start": 2289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "XM_005257368.3:c.2188C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005257425.1:p.Arg730="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061668"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1516,
          "referenceAllele": "C",
          "start": 1515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "XM_005257369.3:c.1414C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005257426.1:p.Arg472="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061669"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1429,
          "referenceAllele": "C",
          "start": 1428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "XM_005257370.3:c.1327C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005257427.1:p.Arg443="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061670"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1342,
          "referenceAllele": "C",
          "start": 1341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "XM_005257371.3:c.1240C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005257428.1:p.Arg414="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061671"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2581,
          "referenceAllele": "C",
          "start": 2580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "XM_005257362.4:c.2479C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005257419.1:p.Arg827="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534641"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2494,
          "referenceAllele": "C",
          "start": 2493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "XM_005257364.4:c.2392C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005257421.1:p.Arg798="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534642"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2488,
          "referenceAllele": "C",
          "start": 2487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "XM_005257365.4:c.2386C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005257422.1:p.Arg796="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534643"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2449,
          "referenceAllele": "C",
          "start": 2448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "XM_005257366.3:c.2305C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005257423.1:p.Arg769="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534644"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2383,
          "referenceAllele": "C",
          "start": 2382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "XM_005257367.4:c.2281C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005257424.1:p.Arg761="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534645"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2290,
          "referenceAllele": "C",
          "start": 2289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "XM_005257368.4:c.2188C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005257425.1:p.Arg730="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534646"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1516,
          "referenceAllele": "C",
          "start": 1515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "XM_005257369.4:c.1414C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005257426.1:p.Arg472="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534647"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1493,
          "referenceAllele": "C",
          "start": 1492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "XM_005257370.4:c.1327C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005257427.1:p.Arg443="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534648"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1342,
          "referenceAllele": "C",
          "start": 1341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "XM_005257371.4:c.1240C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005257428.1:p.Arg414="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534649"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1186,
          "referenceAllele": "C",
          "start": 1185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "NM_001203251.2:c.1036C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001190180.1:p.Arg346="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679738"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2542,
          "referenceAllele": "C",
          "start": 2541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "NM_001377265.1:c.2392C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001364194.1:p.Arg798="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695051",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262410.10:c.2392C="
          },
          "RefSeq": {
            "hgvs": "NM_001377265.1:c.2392C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262410.6:p.Arg798="
          },
          "RefSeq": {
            "hgvs": "NP_001364194.1:p.Arg798="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2251,
          "referenceAllele": "C",
          "start": 2250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "NM_001377266.1:c.2101C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001364195.1:p.Arg701="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695052"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 921,
          "endIntronDirection": "-",
          "endIntronOffset": 1055,
          "referenceAllele": "C",
          "start": 921,
          "startIntronDirection": "-",
          "startIntronOffset": 1056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "NM_001377267.1:c.772-1056C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001364196.1:n.772-1056C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695053"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1252,
          "referenceAllele": "C",
          "start": 1251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "NM_001377268.1:c.949C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001364197.1:p.Arg317="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695054"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1192,
          "referenceAllele": "C",
          "start": 1191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "NM_016834.5:c.1042C="
      ],
      "proteinEffect": {
        "hgvs": "NP_058518.1:p.Arg348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697780"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1099,
          "referenceAllele": "C",
          "start": 1098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "NM_016841.5:c.949C="
      ],
      "proteinEffect": {
        "hgvs": "NP_058525.1:p.Arg317="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697781"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1047,
          "referenceAllele": "C",
          "start": 1046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "NR_165166.1:n.1047C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706026"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2371,
          "referenceAllele": "C",
          "start": 2370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "NM_001123066.4:c.2221C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001116538.2:p.Arg741="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712156"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1279,
          "referenceAllele": "C",
          "start": 1278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "NM_001123067.4:c.1129C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001116539.1:p.Arg377="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712157"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1273,
          "referenceAllele": "C",
          "start": 1272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "NM_001203252.2:c.1123C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001190181.1:p.Arg375="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714102"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083962994",
      "coordinates": [
        {
          "allele": "C",
          "end": 1366,
          "referenceAllele": "C",
          "start": 1365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "NM_005910.6:c.1216C="
      ],
      "proteinEffect": {
        "hgvs": "NP_005901.2:p.Arg406="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727679"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2317,
          "referenceAllele": "C",
          "start": 2316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "NM_016835.5:c.2167C="
      ],
      "proteinEffect": {
        "hgvs": "NP_058519.3:p.Arg723="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728218"
    }
  ],
  "type": "nucleotide"
}