{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA379472297",
  "communityStandardTitle": [
    "NM_000391.4(TPP1):c.1525C>T (p.Gln509Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=546128[alleleid]",
        "alleleId": 546128,
        "preferredName": "NM_000391.4(TPP1):c.1525C>T (p.Gln509Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/551316",
        "RCV": [
          "RCV000666347",
          "RCV001526988",
          "RCV001386654",
          "RCV002530680"
        ],
        "variationId": 551316
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.6636123G>A?assembly=hg19",
        "id": "chr11:g.6636123G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.6614892G>A?assembly=hg38",
        "id": "chr11:g.6614892G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1184563885",
        "rs": 1184563885
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-6636123-G-A?dataset=gnomad_r2_1",
        "id": "11-6636123-G-A",
        "variant": "11:6636123 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-6614892-G-A?dataset=gnomad_r3",
        "id": "11-6614892-G-A",
        "variant": "11:6614892 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-6614892-G-A?dataset=gnomad_r4",
        "id": "11-6614892-G-A",
        "variant": "11:6614892 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 6614892,
          "referenceAllele": "G",
          "start": 6614891
        }
      ],
      "hgvs": [
        "NC_000011.10:g.6614892G>A",
        "CM000673.2:g.6614892G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 6636123,
          "referenceAllele": "G",
          "start": 6636122
        }
      ],
      "hgvs": [
        "NC_000011.9:g.6636123G>A",
        "CM000673.1:g.6636123G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 6592699,
          "referenceAllele": "G",
          "start": 6592698
        }
      ],
      "hgvs": [
        "NC_000011.8:g.6592699G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9570,
          "referenceAllele": "C",
          "start": 9569
        }
      ],
      "hgvs": [
        "NG_008653.1:g.9570C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001146"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1413,
          "referenceAllele": "C",
          "start": 1412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000682424.1:c.1411C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507321.1:p.Gln471Ter",
        "hgvsWellDefined": "ENSP00000507321.1:p.Gln472_Pro525delinsHisGlyAlaGlyLeuPheAspValThrArgGlyCysHisGluSerCysLeuAspGluGluValGluGlyGlnGlyPheCysSerGlyProGlyTrpAspProValThrGlyTrpGlyThrProAsnPheProAlaLeuLeuLysThrLeuLeuAsnProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827415"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1547,
          "referenceAllele": "C",
          "start": 1546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000299427.12:c.1525C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299427.6:p.Gln509Ter",
        "hgvsWellDefined": "ENSP00000299427.6:p.Gln510_Pro563delinsHisGlyAlaGlyLeuPheAspValThrArgGlyCysHisGluSerCysLeuAspGluGluValGluGlyGlnGlyPheCysSerGlyProGlyTrpAspProValThrGlyTrpGlyThrProAsnPheProAlaLeuLeuLysThrLeuLeuAsnProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744674",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299427.12:c.1525C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000391.4:c.1525C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299427.6:p.Gln509Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000382.3:p.Gln509Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 385,
          "referenceAllele": "C",
          "start": 384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000524611.2:n.385C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758860"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 645,
          "referenceAllele": "C",
          "start": 644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000524924.2:n.645C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758882"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1637,
          "referenceAllele": "C",
          "start": 1636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000533371.6:c.796C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437066.1:p.Gln266Ter",
        "hgvsWellDefined": "ENSP00000437066.1:p.Gln267_Pro320delinsHisGlyAlaGlyLeuPheAspValThrArgGlyCysHisGluSerCysLeuAspGluGluValGluGlyGlnGlyPheCysSerGlyProGlyTrpAspProValThrGlyTrpGlyThrProAsnPheProAlaLeuLeuLysThrLeuLeuAsnProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759337"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1541,
          "referenceAllele": "C",
          "start": 1540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000642892.1:c.796C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494165.1:p.Gln266Ter",
        "hgvsWellDefined": "ENSP00000494165.1:p.Gln267_Pro320delinsHisGlyAlaGlyLeuPheAspValThrArgGlyCysHisGluSerCysLeuAspGluGluValGluGlyGlnGlyPheCysSerGlyProGlyTrpAspProValThrGlyTrpGlyThrProAsnPheProAlaLeuLeuLysThrLeuLeuAsnProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766974"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 598,
          "referenceAllele": "C",
          "start": 597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000643342.1:c.598C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767227"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1433,
          "referenceAllele": "C",
          "start": 1432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000643439.1:c.*1265C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495849.1:n.*1265C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767281"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1711,
          "referenceAllele": "C",
          "start": 1710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000643479.1:n.1711C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767303"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1034,
          "referenceAllele": "C",
          "start": 1033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000643516.1:c.1034C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767323"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1365,
          "referenceAllele": "C",
          "start": 1364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000644218.1:c.1336C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493574.1:p.Gln446Ter",
        "hgvsWellDefined": "ENSP00000493574.1:p.Gln447_Pro500delinsHisGlyAlaGlyLeuPheAspValThrArgGlyCysHisGluSerCysLeuAspGluGluValGluGlyGlnGlyPheCysSerGlyProGlyTrpAspProValThrGlyTrpGlyThrProAsnPheProAlaLeuLeuLysThrLeuLeuAsnProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767704"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1496,
          "referenceAllele": "C",
          "start": 1495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000644683.1:c.*978C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494085.1:n.*978C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767938"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1259,
          "referenceAllele": "C",
          "start": 1258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000644810.1:c.1246C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495895.1:p.Gln416Ter",
        "hgvsWellDefined": "ENSP00000495895.1:p.Gln417_Pro470delinsHisGlyAlaGlyLeuPheAspValThrArgGlyCysHisGluSerCysLeuAspGluGluValGluGlyGlnGlyPheCysSerGlyProGlyTrpAspProValThrGlyTrpGlyThrProAsnPheProAlaLeuLeuLysThrLeuLeuAsnProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1701,
          "referenceAllele": "C",
          "start": 1700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000644831.1:n.1701C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1706,
          "referenceAllele": "C",
          "start": 1705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000644933.1:c.*391C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496133.1:n.*391C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768082"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1377,
          "referenceAllele": "C",
          "start": 1376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000645285.1:c.*391C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495058.1:n.*391C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768269"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2730,
          "referenceAllele": "C",
          "start": 2729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000645331.1:n.2730C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768294"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1552,
          "referenceAllele": "C",
          "start": 1551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000645620.1:c.796C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493657.1:p.Gln266Ter",
        "hgvsWellDefined": "ENSP00000493657.1:p.Gln267_Pro320delinsHisGlyAlaGlyLeuPheAspValThrArgGlyCysHisGluSerCysLeuAspGluGluValGluGlyGlnGlyPheCysSerGlyProGlyTrpAspProValThrGlyTrpGlyThrProAsnPheProAlaLeuLeuLysThrLeuLeuAsnProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768460"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1412,
          "referenceAllele": "C",
          "start": 1411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000646691.1:n.1412C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769014"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1858,
          "referenceAllele": "C",
          "start": 1857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000646777.1:n.1858C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769061"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2005,
          "referenceAllele": "C",
          "start": 2004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000647016.1:n.2005C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769192"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1510,
          "referenceAllele": "C",
          "start": 1509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000647152.1:c.796C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495893.1:p.Gln266Ter",
        "hgvsWellDefined": "ENSP00000495893.1:p.Gln267_Pro320delinsHisGlyAlaGlyLeuPheAspValThrArgGlyCysHisGluSerCysLeuAspGluGluValGluGlyGlnGlyPheCysSerGlyProGlyTrpAspProValThrGlyTrpGlyThrProAsnPheProAlaLeuLeuLysThrLeuLeuAsnProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769264"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1530,
          "referenceAllele": "C",
          "start": 1529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000647209.1:c.*1394C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495558.1:n.*1394C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769287"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2545,
          "referenceAllele": "C",
          "start": 2544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000647346.1:n.2545C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769364"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1586,
          "referenceAllele": "C",
          "start": 1585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000299427.10:c.1525C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299427.6:p.Gln509Ter",
        "hgvsWellDefined": "ENSP00000299427.6:p.Gln510_Pro563delinsHisGlyAlaGlyLeuPheAspValThrArgGlyCysHisGluSerCysLeuAspGluGluValGluGlyGlnGlyPheCysSerGlyProGlyTrpAspProValThrGlyTrpGlyThrProAsnPheProAlaLeuLeuLysThrLeuLeuAsnProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254722"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 403,
          "referenceAllele": "C",
          "start": 402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000524611.1:n.403C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS350741"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1595,
          "referenceAllele": "C",
          "start": 1594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000533371.5:c.796C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437066.1:p.Gln266Ter",
        "hgvsWellDefined": "ENSP00000437066.1:p.Gln267_Pro320delinsHisGlyAlaGlyLeuPheAspValThrArgGlyCysHisGluSerCysLeuAspGluGluValGluGlyGlnGlyPheCysSerGlyProGlyTrpAspProValThrGlyTrpGlyThrProAsnPheProAlaLeuLeuLysThrLeuLeuAsnProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS358154"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1555,
          "referenceAllele": "C",
          "start": 1554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000611494.4:c.1525C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484546.1:p.Gln509Ter",
        "hgvsWellDefined": "ENSP00000484546.1:p.Gln510_Cys556delinsHisGlyAlaGlyLeuPheAspValThrArgGlyCysHisGluSerCysLeuAspGluGluValGluGlyGlnGlyPheCysSerGlyProGlyTrpAspProValThrGlyTrpGlyThrProThrSerGlnLeuCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400868"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658826698",
      "coordinates": [
        {
          "allele": "T",
          "end": 1586,
          "referenceAllele": "C",
          "start": 1585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "NM_000391.3:c.1525C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000382.3:p.Gln509Ter",
        "hgvsWellDefined": "NP_000382.3:p.Gln510_Pro563delinsHisGlyAlaGlyLeuPheAspValThrArgGlyCysHisGluSerCysLeuAspGluGluValGluGlyGlnGlyPheCysSerGlyProGlyTrpAspProValThrGlyTrpGlyThrProAsnPheProAlaLeuLeuLysThrLeuLeuAsnProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006452"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658826698",
      "coordinates": [
        {
          "allele": "T",
          "end": 1547,
          "referenceAllele": "C",
          "start": 1546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "NM_000391.4:c.1525C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000382.3:p.Gln509Ter",
        "hgvsWellDefined": "NP_000382.3:p.Gln510_Pro563delinsHisGlyAlaGlyLeuPheAspValThrArgGlyCysHisGluSerCysLeuAspGluGluValGluGlyGlnGlyPheCysSerGlyProGlyTrpAspProValThrGlyTrpGlyThrProAsnPheProAlaLeuLeuLysThrLeuLeuAsnProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662423",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299427.12:c.1525C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000391.4:c.1525C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299427.6:p.Gln509Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000382.3:p.Gln509Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}