{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16619376",
  "communityStandardTitle": [
    "NM_000391.4(TPP1):c.274del (p.Ser92ProfsTer3)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=408428[alleleid]",
        "alleleId": 408428,
        "preferredName": "NM_000391.4(TPP1):c.274del (p.Ser92fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/419346",
        "RCV": [
          "RCV000480719"
        ],
        "variationId": 419346
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.6638963del?assembly=hg19",
        "id": "chr11:g.6638963del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.6617732del?assembly=hg38",
        "id": "chr11:g.6617732del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064793806",
        "rs": 1064793806
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-6617731-GA-G?dataset=gnomad_r3",
        "id": "11-6617731-GA-G",
        "variant": "11:6617731 GA / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-6617731-GA-G?dataset=gnomad_r4",
        "id": "11-6617731-GA-G",
        "variant": "11:6617731 GA / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "",
          "end": 6617732,
          "referenceAllele": "A",
          "start": 6617731
        }
      ],
      "hgvs": [
        "NC_000011.10:g.6617732del",
        "CM000673.2:g.6617732del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "",
          "end": 6638963,
          "referenceAllele": "A",
          "start": 6638962
        }
      ],
      "hgvs": [
        "NC_000011.9:g.6638963del",
        "CM000673.1:g.6638963del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "",
          "end": 6595539,
          "referenceAllele": "A",
          "start": 6595538
        }
      ],
      "hgvs": [
        "NC_000011.8:g.6595539del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6730,
          "referenceAllele": "T",
          "start": 6729
        }
      ],
      "hgvs": [
        "NG_008653.1:g.6730del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001146"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 162,
          "referenceAllele": "T",
          "start": 161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000682424.1:c.160del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507321.1:p.Ser54ProfsTer3",
        "hgvsWellDefined": "ENSP00000507321.1:p.[Ser54del;Leu56_Leu58del;Thr60_Thr83del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827415"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 296,
          "referenceAllele": "T",
          "start": 295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000299427.12:c.274del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299427.6:p.Ser92ProfsTer3",
        "hgvsWellDefined": "ENSP00000299427.6:p.[Ser92del;Leu94_Leu96del;Thr98_Thr121del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744674",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299427.12:c.274del"
          },
          "RefSeq": {
            "hgvs": "NM_000391.4:c.274del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299427.6:p.Ser92ProfsTer3"
          },
          "RefSeq": {
            "hgvs": "NP_000382.3:p.Ser92ProfsTer3"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 362,
          "referenceAllele": "T",
          "start": 361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000428886.7:n.362del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS755247"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 78,
          "referenceAllele": "T",
          "start": 77
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000436873.7:c.78del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS755639"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1286,
          "referenceAllele": "T",
          "start": 1285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000524788.2:n.1286del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758869"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1402,
          "referenceAllele": "T",
          "start": 1401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000524903.2:n.1402del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758880"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 137,
          "referenceAllele": "T",
          "start": 136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000528571.6:c.*14del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434647.1:n.*14del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759083"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 303,
          "referenceAllele": "T",
          "start": 302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000530040.2:n.303del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS759157"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 386,
          "referenceAllele": "T",
          "start": 385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000533371.6:c.-456del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437066.1:n.-456del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759337"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 275,
          "referenceAllele": "T",
          "start": 274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000534644.6:n.275del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS759406"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 343,
          "referenceAllele": "T",
          "start": 342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000642892.1:c.-403del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494165.1:n.-403del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766974"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 182,
          "referenceAllele": "T",
          "start": 181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000643439.1:c.*14del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495849.1:n.*14del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767281"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 303,
          "referenceAllele": "T",
          "start": 302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000643479.1:n.303del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767303"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 161,
          "referenceAllele": "T",
          "start": 160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000643516.1:c.161del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767323"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1566,
          "referenceAllele": "T",
          "start": 1565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000644151.1:n.1566del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767664"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 303,
          "referenceAllele": "T",
          "start": 302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000644218.1:c.274del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493574.1:p.Ser92ProfsTer3",
        "hgvsWellDefined": "ENSP00000493574.1:p.[Ser92del;Leu94_Leu96del;Thr98_Thr121del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767704"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 303,
          "referenceAllele": "T",
          "start": 302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000644683.1:c.274del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494085.1:p.Ser92ProfsTer3",
        "hgvsWellDefined": "ENSP00000494085.1:p.[Ser92del;Leu94_Leu96del;Thr98_Thr121del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767938"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 242,
          "endIntronDirection": "-",
          "endIntronOffset": 578,
          "referenceAllele": "T",
          "start": 242,
          "startIntronDirection": "-",
          "startIntronOffset": 579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000644810.1:c.230-579del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495895.1:n.230-579del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768009"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 303,
          "referenceAllele": "T",
          "start": 302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000644831.1:n.303del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768023"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 371,
          "referenceAllele": "T",
          "start": 370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000644933.1:c.-456del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496133.1:n.-456del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768082"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1302,
          "referenceAllele": "T",
          "start": 1301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000645020.1:n.1302del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768124"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 231,
          "referenceAllele": "T",
          "start": 230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000645285.1:c.-456del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495058.1:n.-456del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768269"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 296,
          "referenceAllele": "T",
          "start": 295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000645331.1:n.296del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768294"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 359,
          "referenceAllele": "T",
          "start": 358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000645620.1:c.-398del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493657.1:n.-398del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768460"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 303,
          "referenceAllele": "T",
          "start": 302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000646777.1:n.303del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769061"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 607,
          "referenceAllele": "T",
          "start": 606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000647016.1:n.607del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769192"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 259,
          "referenceAllele": "T",
          "start": 258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000647152.1:c.-456del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495893.1:n.-456del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769264"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 279,
          "referenceAllele": "T",
          "start": 278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000647209.1:c.*143del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495558.1:n.*143del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769287"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1294,
          "referenceAllele": "T",
          "start": 1293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000647346.1:n.1294del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769364"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 335,
          "referenceAllele": "T",
          "start": 334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000299427.10:c.274del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299427.6:p.Ser92ProfsTer3",
        "hgvsWellDefined": "ENSP00000299427.6:p.[Ser92del;Leu94_Leu96del;Thr98_Thr121del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254722"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 296,
          "referenceAllele": "T",
          "start": 295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000428886.6:n.296del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS290414"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 303,
          "referenceAllele": "T",
          "start": 302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000436873.6:c.274del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398136.2:p.Ser92ProfsTer3",
        "hgvsWellDefined": "ENSP00000398136.2:p.[Ser92del;Leu94_Leu96del;Thr98_Thr121del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294190"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 156,
          "referenceAllele": "T",
          "start": 155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000528571.5:c.*14del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434647.1:n.*14del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS354090"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 386,
          "referenceAllele": "T",
          "start": 385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000530040.1:n.386del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS355356"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 344,
          "referenceAllele": "T",
          "start": 343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000533371.5:c.-456del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437066.1:n.-456del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS358154"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 259,
          "referenceAllele": "T",
          "start": 258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000534644.5:n.259del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS359222"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 304,
          "referenceAllele": "T",
          "start": 303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000611494.4:c.274del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484546.1:p.Ser92ProfsTer3",
        "hgvsWellDefined": "ENSP00000484546.1:p.[Ser92del;Leu94_Leu96del;Thr98_Thr121del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400868"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 335,
          "referenceAllele": "T",
          "start": 334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "NM_000391.3:c.274del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000382.3:p.Ser92ProfsTer3",
        "hgvsWellDefined": "NP_000382.3:p.[Ser92del;Leu94_Leu96del;Thr98_Thr121del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006452"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 296,
          "referenceAllele": "T",
          "start": 295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "NM_000391.4:c.274del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000382.3:p.Ser92ProfsTer3",
        "hgvsWellDefined": "NP_000382.3:p.[Ser92del;Leu94_Leu96del;Thr98_Thr121del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662423",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299427.12:c.274del"
          },
          "RefSeq": {
            "hgvs": "NM_000391.4:c.274del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299427.6:p.Ser92ProfsTer3"
          },
          "RefSeq": {
            "hgvs": "NP_000382.3:p.Ser92ProfsTer3"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}