{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5022357",
  "communityStandardTitle": [
    "NM_001195248.2(APTX):c.618G>T (p.Pro206=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=503372[alleleid]",
        "alleleId": 503372,
        "preferredName": "NM_001195248.2(APTX):c.618G>T (p.Pro206=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/516304",
        "RCV": [
          "RCV001165623",
          "RCV001719086"
        ],
        "variationId": 516304
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-32984781-C-A",
        "id": "9-32984781-C-A",
        "variant": "9:32984781 C / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.32984781C>A?assembly=hg19",
        "id": "chr9:g.32984781C>A"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.32984781_32984782delinsAG?assembly=hg19",
        "id": "chr9:g.32984781_32984782delinsAG"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.32984783C>A?assembly=hg38",
        "id": "chr9:g.32984783C>A"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.32984783_32984784delinsAG?assembly=hg38",
        "id": "chr9:g.32984783_32984784delinsAG"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/140355580",
        "rs": 140355580
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-32984781-C-A?dataset=gnomad_r2_1",
        "id": "9-32984781-C-A",
        "variant": "9:32984781 C / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-32984783-C-A?dataset=gnomad_r3",
        "id": "9-32984783-C-A",
        "variant": "9:32984783 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-32984783-C-A?dataset=gnomad_r4",
        "id": "9-32984783-C-A",
        "variant": "9:32984783 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 32984783,
          "referenceAllele": "C",
          "start": 32984782
        }
      ],
      "hgvs": [
        "NC_000009.12:g.32984783C>A",
        "CM000671.2:g.32984783C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 32984781,
          "referenceAllele": "C",
          "start": 32984780
        }
      ],
      "hgvs": [
        "NC_000009.11:g.32984781C>A",
        "CM000671.1:g.32984781C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 32974781,
          "referenceAllele": "C",
          "start": 32974780
        }
      ],
      "hgvs": [
        "NC_000009.10:g.32974781C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 21846,
          "referenceAllele": "G",
          "start": 21845
        }
      ],
      "hgvs": [
        "NG_012821.1:g.21846G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002554"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 45349,
          "referenceAllele": "G",
          "start": 45348
        }
      ],
      "hgvs": [
        "NG_012821.2:g.45349G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706112"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 540,
          "referenceAllele": "G",
          "start": 539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000309615.8:c.456G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000311547.4:p.Pro152="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745558"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 684,
          "referenceAllele": "G",
          "start": 683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000379817.7:c.618G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369145.2:p.Pro206="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752285",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000379817.7:c.618G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001195248.2:c.618G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369145.2:p.Pro206="
          },
          "RefSeq": {
            "hgvs": "NP_001182177.2:p.Pro206="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 782,
          "referenceAllele": "G",
          "start": 781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000379819.6:c.618G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369147.2:p.Pro206="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752287"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 684,
          "referenceAllele": "G",
          "start": 683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000379825.7:c.618G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369153.3:p.Pro206="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752288"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 447,
          "referenceAllele": "G",
          "start": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000397172.8:c.402G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380357.4:p.Pro134="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753615"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 556,
          "referenceAllele": "G",
          "start": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000436040.7:c.456G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400806.4:p.Pro152="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755594"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 645,
          "endIntronDirection": "+",
          "endIntronOffset": 1188,
          "referenceAllele": "G",
          "start": 645,
          "startIntronDirection": "+",
          "startIntronOffset": 1187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000460940.6:c.*388+1188G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418311.1:n.*388+1188G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756700"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 812,
          "referenceAllele": "G",
          "start": 811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000463596.6:c.618G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419846.1:p.Pro206="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756774"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 555,
          "referenceAllele": "G",
          "start": 554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000464632.6:c.*348G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418069.2:n.*348G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756806"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 625,
          "referenceAllele": "G",
          "start": 624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000465003.6:c.*348G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419430.2:n.*348G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756820"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 666,
          "referenceAllele": "G",
          "start": 665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000467331.6:c.*463G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418733.1:n.*463G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756899"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 689,
          "referenceAllele": "G",
          "start": 688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000468275.6:c.618G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420263.2:p.Pro206="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756925"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 673,
          "referenceAllele": "G",
          "start": 672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000472896.6:c.*412G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417804.2:n.*412G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757080"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 285,
          "referenceAllele": "G",
          "start": 284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000474658.7:c.*61G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417750.3:n.*61G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757125"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 535,
          "referenceAllele": "G",
          "start": 534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000476858.6:c.456G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419042.2:p.Pro152="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757207"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 567,
          "referenceAllele": "G",
          "start": 566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000477119.2:c.501G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417649.2:p.Pro167="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757216"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 560,
          "referenceAllele": "G",
          "start": 559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000478279.6:c.*245G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419597.2:n.*245G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757259"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 770,
          "referenceAllele": "G",
          "start": 769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000479656.6:c.*463G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420071.1:n.*463G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757310"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 604,
          "referenceAllele": "G",
          "start": 603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000480031.6:c.*412G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417684.1:n.*412G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757321"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 714,
          "endIntronDirection": "+",
          "endIntronOffset": 1188,
          "referenceAllele": "G",
          "start": 714,
          "startIntronDirection": "+",
          "startIntronOffset": 1187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000482687.6:c.*388+1188G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419289.2:n.*388+1188G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757416"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 762,
          "referenceAllele": "G",
          "start": 761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000483148.6:c.*245G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419723.1:n.*245G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757431"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 559,
          "referenceAllele": "G",
          "start": 558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000485479.6:c.*339G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418144.1:n.*339G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757507"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 651,
          "referenceAllele": "G",
          "start": 650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000495360.6:c.*361G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419623.2:n.*361G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757802"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 216,
          "referenceAllele": "G",
          "start": 215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000671774.1:n.216G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773167"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 439,
          "endIntronDirection": "+",
          "endIntronOffset": 1188,
          "referenceAllele": "G",
          "start": 439,
          "startIntronDirection": "+",
          "startIntronOffset": 1187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000671912.1:c.279+1188G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500871.1:n.279+1188G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773209"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 740,
          "endIntronDirection": "+",
          "endIntronOffset": 1188,
          "referenceAllele": "G",
          "start": 740,
          "startIntronDirection": "+",
          "startIntronOffset": 1187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000672152.1:n.740+1188G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773291"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 421,
          "endIntronDirection": "+",
          "endIntronOffset": 1188,
          "referenceAllele": "G",
          "start": 421,
          "startIntronDirection": "+",
          "startIntronOffset": 1187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000672244.1:c.381+1188G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499875.1:n.381+1188G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773316"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 815,
          "referenceAllele": "G",
          "start": 814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000672281.1:n.815G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773330"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 879,
          "referenceAllele": "G",
          "start": 878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000672286.1:n.879G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773334"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 547,
          "referenceAllele": "G",
          "start": 546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000672438.1:c.354G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499997.1:p.Pro118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773385"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 810,
          "referenceAllele": "G",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000672476.1:n.810G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773394"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1157,
          "referenceAllele": "G",
          "start": 1156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000672493.1:n.1157G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773399"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 640,
          "endIntronDirection": "+",
          "endIntronOffset": 1188,
          "referenceAllele": "G",
          "start": 640,
          "startIntronDirection": "+",
          "startIntronOffset": 1187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000672519.1:c.*388+1188G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500320.1:n.*388+1188G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773406"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 523,
          "referenceAllele": "G",
          "start": 522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000672535.1:c.*348G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499872.1:n.*348G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773408"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 695,
          "referenceAllele": "G",
          "start": 694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000672615.1:n.695G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773435"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 544,
          "referenceAllele": "G",
          "start": 543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000672846.1:c.*348G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500396.1:n.*348G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773511"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 482,
          "referenceAllele": "G",
          "start": 481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000673114.1:n.482G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773591"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 620,
          "endIntronDirection": "+",
          "endIntronOffset": 1188,
          "referenceAllele": "G",
          "start": 620,
          "startIntronDirection": "+",
          "startIntronOffset": 1187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000673171.1:n.620+1188G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773603"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 700,
          "referenceAllele": "G",
          "start": 699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000673211.1:n.700G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773615"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 742,
          "referenceAllele": "G",
          "start": 741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000673248.1:c.354G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500601.1:p.Pro118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773633"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 896,
          "referenceAllele": "G",
          "start": 895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000673333.1:n.896G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773652"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 531,
          "referenceAllele": "G",
          "start": 530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000673360.1:c.*61G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500360.1:n.*61G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773658"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 744,
          "referenceAllele": "G",
          "start": 743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000673416.1:c.354G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500738.1:p.Pro118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773672"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 815,
          "referenceAllele": "G",
          "start": 814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000673485.1:n.815G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773700"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 829,
          "referenceAllele": "G",
          "start": 828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000673487.1:c.*348G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500943.1:n.*348G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773701"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 146,
          "referenceAllele": "G",
          "start": 145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000673598.1:c.96G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499991.1:p.Pro32="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773730"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 557,
          "referenceAllele": "G",
          "start": 556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000309615.7:c.456G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000311547.4:p.Pro152="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256233"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 447,
          "referenceAllele": "G",
          "start": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000379812.9:c.444G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369140.5:p.Pro148="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272654"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 608,
          "referenceAllele": "G",
          "start": 607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000379813.7:c.600G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369141.4:p.Pro200="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272655"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 815,
          "referenceAllele": "G",
          "start": 814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000379817.6:c.618G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369145.2:p.Pro206="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272657"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 660,
          "referenceAllele": "G",
          "start": 659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000379819.5:c.660G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369147.1:p.Pro220="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272659"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 684,
          "referenceAllele": "G",
          "start": 683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000379825.6:c.660G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369153.2:p.Pro220="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272661"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 447,
          "referenceAllele": "G",
          "start": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000397172.7:c.444G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380357.3:p.Pro148="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277661"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 866,
          "referenceAllele": "G",
          "start": 865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000436040.6:c.618G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400806.3:p.Pro206="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS293787"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 735,
          "endIntronDirection": "+",
          "endIntronOffset": 1188,
          "referenceAllele": "G",
          "start": 735,
          "startIntronDirection": "+",
          "startIntronOffset": 1187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000460940.5:c.*388+1188G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418311.1:n.*388+1188G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305574"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 812,
          "referenceAllele": "G",
          "start": 811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000463596.5:c.618G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419846.1:p.Pro206="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS307597"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 555,
          "referenceAllele": "G",
          "start": 554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000464632.5:c.*348G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418069.1:n.*348G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS308416"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 700,
          "referenceAllele": "G",
          "start": 699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000465003.5:c.*245G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419430.1:n.*245G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS308697"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 810,
          "referenceAllele": "G",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000467331.5:c.*463G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418733.1:n.*463G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS310490"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 711,
          "referenceAllele": "G",
          "start": 710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000468275.5:c.618G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420263.1:p.Pro206="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS311225"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 620,
          "endIntronDirection": "+",
          "endIntronOffset": 1188,
          "referenceAllele": "G",
          "start": 620,
          "startIntronDirection": "+",
          "startIntronOffset": 1187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000472896.5:c.*273+1188G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417804.1:n.*273+1188G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS314767"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 535,
          "referenceAllele": "G",
          "start": 534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000473221.5:c.498G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419020.1:p.Pro166="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS315024"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 285,
          "referenceAllele": "G",
          "start": 284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000474658.6:c.285G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316120"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 535,
          "referenceAllele": "G",
          "start": 534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000476858.5:c.498G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419042.1:p.Pro166="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS317807"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 557,
          "referenceAllele": "G",
          "start": 556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000477119.1:c.456G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417649.1:p.Pro152="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS318011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 560,
          "referenceAllele": "G",
          "start": 559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000478279.5:c.*245G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419597.1:n.*245G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS318923"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 735,
          "referenceAllele": "G",
          "start": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000479656.5:c.*463G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420071.1:n.*463G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS319980"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 606,
          "referenceAllele": "G",
          "start": 605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000480031.5:c.*412G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417684.1:n.*412G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS320279"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 740,
          "endIntronDirection": "+",
          "endIntronOffset": 1188,
          "referenceAllele": "G",
          "start": 740,
          "startIntronDirection": "+",
          "startIntronOffset": 1187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000482687.5:c.543+1188G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419289.1:n.543+1188G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS322322"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 625,
          "endIntronDirection": "+",
          "endIntronOffset": 1188,
          "referenceAllele": "G",
          "start": 625,
          "startIntronDirection": "+",
          "startIntronOffset": 1187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000483148.5:c.*170+1188G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419723.1:n.*170+1188G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS322686"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 695,
          "referenceAllele": "G",
          "start": 694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000485479.5:c.*348G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418144.1:n.*348G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS324495"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 354,
          "referenceAllele": "G",
          "start": 353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000486724.5:n.354G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325464"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 806,
          "referenceAllele": "G",
          "start": 805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000494649.5:c.*463G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417634.1:n.*463G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS331527"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 811,
          "referenceAllele": "G",
          "start": 810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000495360.5:c.*348G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419623.1:n.*348G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS332074"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 697,
          "referenceAllele": "G",
          "start": 696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NM_001195248.1:c.660G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182177.1:p.Pro220="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016564"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826199956",
      "coordinates": [
        {
          "allele": "T",
          "end": 866,
          "referenceAllele": "G",
          "start": 865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NM_001195249.1:c.618G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182178.1:p.Pro206="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016565"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 535,
          "referenceAllele": "G",
          "start": 534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NM_001195250.1:c.498G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182179.1:p.Pro166="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016566"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826200196",
      "coordinates": [
        {
          "allele": "T",
          "end": 803,
          "referenceAllele": "G",
          "start": 802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NM_001195251.1:c.618G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182180.1:p.Pro206="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016567"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 481,
          "referenceAllele": "G",
          "start": 480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NM_001195252.1:c.444G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182181.1:p.Pro148="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016568"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826200396",
      "coordinates": [
        {
          "allele": "T",
          "end": 557,
          "referenceAllele": "G",
          "start": 556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NM_001195254.1:c.456G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182183.1:p.Pro152="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016569"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 697,
          "referenceAllele": "G",
          "start": 696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NM_175069.2:c.660G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_778239.1:p.Pro220="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043162"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830379853",
      "coordinates": [
        {
          "allele": "T",
          "end": 803,
          "referenceAllele": "G",
          "start": 802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NM_175073.2:c.618G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_778243.1:p.Pro206="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043163"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 692,
          "referenceAllele": "G",
          "start": 691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NR_036576.1:n.692G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS049798"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 582,
          "referenceAllele": "G",
          "start": 581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NR_036577.1:n.582G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS049799"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 714,
          "referenceAllele": "G",
          "start": 713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NR_036578.1:n.714G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS049800"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 861,
          "referenceAllele": "G",
          "start": 860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NR_036579.1:n.861G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS049801"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 705,
          "referenceAllele": "G",
          "start": 704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "XM_006716791.2:c.618G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716854.1:p.Pro206="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071843"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 723,
          "referenceAllele": "G",
          "start": 722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "XM_006716792.2:c.354G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716855.1:p.Pro118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071844"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 705,
          "referenceAllele": "G",
          "start": 704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "XM_011517936.1:c.354G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516238.1:p.Pro118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085118"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 714,
          "referenceAllele": "G",
          "start": 713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "XM_011517937.1:c.354G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516239.1:p.Pro118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085119"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 681,
          "referenceAllele": "G",
          "start": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "XM_011517938.1:c.354G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516240.1:p.Pro118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085120"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 650,
          "referenceAllele": "G",
          "start": 649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "XM_011517939.1:c.354G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516241.1:p.Pro118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085121"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 622,
          "endIntronDirection": "+",
          "endIntronOffset": 1188,
          "referenceAllele": "G",
          "start": 622,
          "startIntronDirection": "+",
          "startIntronOffset": 1187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "XR_428423.2:n.622+1188G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118052"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 697,
          "referenceAllele": "G",
          "start": 696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "XR_929276.1:n.697G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS125487"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 697,
          "referenceAllele": "G",
          "start": 696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "XR_929277.1:n.697G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS125488"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 622,
          "endIntronDirection": "+",
          "endIntronOffset": 1188,
          "referenceAllele": "G",
          "start": 622,
          "startIntronDirection": "+",
          "startIntronOffset": 1187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "XR_929279.1:n.622+1188G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS125489"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 705,
          "referenceAllele": "G",
          "start": 704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "XM_006716791.4:c.618G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716854.1:p.Pro206="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539251"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 718,
          "referenceAllele": "G",
          "start": 717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "XM_006716792.3:c.354G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716855.1:p.Pro118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539252"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 676,
          "referenceAllele": "G",
          "start": 675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "XM_011517938.2:c.354G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516240.1:p.Pro118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544725"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 614,
          "referenceAllele": "G",
          "start": 613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "XM_011517939.3:c.354G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516241.1:p.Pro118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544726"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 697,
          "referenceAllele": "G",
          "start": 696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "XM_017014831.1:c.660G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870320.1:p.Pro220="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567693"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 697,
          "referenceAllele": "G",
          "start": 696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "XM_017014832.1:c.660G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870321.1:p.Pro220="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567694"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 697,
          "referenceAllele": "G",
          "start": 696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "XM_017014833.2:c.660G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870322.1:p.Pro220="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567695"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 697,
          "referenceAllele": "G",
          "start": 696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "XM_017014836.2:c.660G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870325.1:p.Pro220="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567696"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 787,
          "referenceAllele": "G",
          "start": 786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "XM_017014837.2:c.456G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870326.1:p.Pro152="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567697"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 679,
          "referenceAllele": "G",
          "start": 678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "XM_017014838.1:c.354G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870327.1:p.Pro118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567698"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 937,
          "referenceAllele": "G",
          "start": 936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "XM_024447575.1:c.618G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303343.1:p.Pro206="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581156"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 753,
          "referenceAllele": "G",
          "start": 752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "XM_024447576.1:c.618G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303344.1:p.Pro206="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581157"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 722,
          "referenceAllele": "G",
          "start": 721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "XM_024447577.1:c.618G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303345.1:p.Pro206="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581158"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 697,
          "referenceAllele": "G",
          "start": 696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "XM_024447578.1:c.660G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303346.1:p.Pro220="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581159"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 950,
          "referenceAllele": "G",
          "start": 949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "XM_024447579.1:c.618G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303347.1:p.Pro206="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581160"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 558,
          "referenceAllele": "G",
          "start": 557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "XM_024447580.1:c.456G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303348.1:p.Pro152="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581161"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 934,
          "referenceAllele": "G",
          "start": 933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "XM_024447581.1:c.354G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303349.1:p.Pro118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581162"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 739,
          "referenceAllele": "G",
          "start": 738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "XM_024447582.1:c.354G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303350.1:p.Pro118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581163"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 697,
          "referenceAllele": "G",
          "start": 696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "XR_001746325.2:n.697G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594665"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 705,
          "referenceAllele": "G",
          "start": 704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "XR_001746326.2:n.705G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594666"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 622,
          "endIntronDirection": "+",
          "endIntronOffset": 1188,
          "referenceAllele": "G",
          "start": 622,
          "startIntronDirection": "+",
          "startIntronOffset": 1187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "XR_428423.3:n.622+1188G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606552"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 697,
          "referenceAllele": "G",
          "start": 696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "XR_929276.3:n.697G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS609141"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 697,
          "referenceAllele": "G",
          "start": 696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "XR_929277.3:n.697G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS609142"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826199831",
      "coordinates": [
        {
          "allele": "T",
          "end": 684,
          "referenceAllele": "G",
          "start": 683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NM_001195248.2:c.618G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182177.2:p.Pro206="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679293",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000379817.7:c.618G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001195248.2:c.618G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369145.2:p.Pro206="
          },
          "RefSeq": {
            "hgvs": "NP_001182177.2:p.Pro206="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826200071",
      "coordinates": [
        {
          "allele": "T",
          "end": 522,
          "referenceAllele": "G",
          "start": 521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NM_001195250.2:c.456G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182179.2:p.Pro152="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679294"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826200280",
      "coordinates": [
        {
          "allele": "T",
          "end": 468,
          "referenceAllele": "G",
          "start": 467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NM_001195252.2:c.402G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182181.2:p.Pro134="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679295"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828304304",
      "coordinates": [
        {
          "allele": "T",
          "end": 743,
          "referenceAllele": "G",
          "start": 742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NM_001368995.1:c.618G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355924.1:p.Pro206="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691496"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828304430",
      "coordinates": [
        {
          "allele": "T",
          "end": 720,
          "referenceAllele": "G",
          "start": 719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NM_001368996.1:c.618G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355925.1:p.Pro206="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691497"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828304556",
      "coordinates": [
        {
          "allele": "T",
          "end": 939,
          "referenceAllele": "G",
          "start": 938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NM_001368997.1:c.618G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355926.1:p.Pro206="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691498"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828304682",
      "coordinates": [
        {
          "allele": "T",
          "end": 735,
          "referenceAllele": "G",
          "start": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NM_001368998.1:c.618G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355927.1:p.Pro206="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691499"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828304807",
      "coordinates": [
        {
          "allele": "T",
          "end": 939,
          "referenceAllele": "G",
          "start": 938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NM_001368999.1:c.618G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355928.1:p.Pro206="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691500"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828304905",
      "coordinates": [
        {
          "allele": "T",
          "end": 777,
          "referenceAllele": "G",
          "start": 776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NM_001369000.1:c.456G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355929.1:p.Pro152="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691501"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828305006",
      "coordinates": [
        {
          "allele": "T",
          "end": 558,
          "referenceAllele": "G",
          "start": 557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NM_001369001.1:c.456G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355930.1:p.Pro152="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691502"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828305098",
      "coordinates": [
        {
          "allele": "T",
          "end": 738,
          "referenceAllele": "G",
          "start": 737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NM_001369002.1:c.354G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355931.1:p.Pro118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691503"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828305190",
      "coordinates": [
        {
          "allele": "T",
          "end": 934,
          "referenceAllele": "G",
          "start": 933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NM_001369003.1:c.354G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355932.1:p.Pro118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691504"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828305282",
      "coordinates": [
        {
          "allele": "T",
          "end": 637,
          "referenceAllele": "G",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NM_001369004.1:c.354G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355933.1:p.Pro118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691505"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828305375",
      "coordinates": [
        {
          "allele": "T",
          "end": 785,
          "referenceAllele": "G",
          "start": 784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NM_001369005.1:c.354G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355934.1:p.Pro118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691506"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828305466",
      "coordinates": [
        {
          "allele": "T",
          "end": 679,
          "referenceAllele": "G",
          "start": 678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NM_001369006.1:c.354G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355935.1:p.Pro118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691507"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828446543",
      "coordinates": [
        {
          "allele": "T",
          "end": 679,
          "referenceAllele": "G",
          "start": 678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NM_001370669.1:c.354G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357598.1:p.Pro118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692583"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828446704",
      "coordinates": [
        {
          "allele": "T",
          "end": 730,
          "referenceAllele": "G",
          "start": 729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NM_001370670.1:c.354G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357599.1:p.Pro118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692584"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828446929",
      "coordinates": [
        {
          "allele": "T",
          "end": 913,
          "referenceAllele": "G",
          "start": 912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NM_001370673.1:c.354G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357602.1:p.Pro118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692585"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830379739",
      "coordinates": [
        {
          "allele": "T",
          "end": 684,
          "referenceAllele": "G",
          "start": 683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NM_175069.3:c.618G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_778239.2:p.Pro206="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700713"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 609,
          "endIntronDirection": "+",
          "endIntronOffset": 1188,
          "referenceAllele": "G",
          "start": 609,
          "startIntronDirection": "+",
          "startIntronOffset": 1187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NR_160920.1:n.609+1188G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705226"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 588,
          "referenceAllele": "G",
          "start": 587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NR_160921.1:n.588G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705227"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 819,
          "referenceAllele": "G",
          "start": 818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NR_160922.1:n.819G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705228"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 623,
          "referenceAllele": "G",
          "start": 622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NR_160923.1:n.623G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705229"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 628,
          "referenceAllele": "G",
          "start": 627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NR_160924.1:n.628G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705230"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 824,
          "referenceAllele": "G",
          "start": 823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NR_160925.1:n.824G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705231"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 614,
          "referenceAllele": "G",
          "start": 613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NR_160926.1:n.614G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705232"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 859,
          "endIntronDirection": "+",
          "endIntronOffset": 1188,
          "referenceAllele": "G",
          "start": 859,
          "startIntronDirection": "+",
          "startIntronOffset": 1187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NR_160927.1:n.859+1188G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705233"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 749,
          "endIntronDirection": "+",
          "endIntronOffset": 1188,
          "referenceAllele": "G",
          "start": 749,
          "startIntronDirection": "+",
          "startIntronOffset": 1187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NR_160928.1:n.749+1188G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705234"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 663,
          "endIntronDirection": "+",
          "endIntronOffset": 1188,
          "referenceAllele": "G",
          "start": 663,
          "startIntronDirection": "+",
          "startIntronOffset": 1187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NR_160929.1:n.663+1188G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705235"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 564,
          "referenceAllele": "G",
          "start": 563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NR_160930.1:n.564G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705236"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 803,
          "referenceAllele": "G",
          "start": 802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NR_160931.1:n.803G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705237"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826199956",
      "coordinates": [
        {
          "allele": "T",
          "end": 918,
          "referenceAllele": "G",
          "start": 917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NM_001195249.2:c.618G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182178.1:p.Pro206="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713796"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826200196",
      "coordinates": [
        {
          "allele": "T",
          "end": 790,
          "referenceAllele": "G",
          "start": 789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NM_001195251.2:c.618G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182180.1:p.Pro206="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713797"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826200396",
      "coordinates": [
        {
          "allele": "T",
          "end": 573,
          "referenceAllele": "G",
          "start": 572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NM_001195254.2:c.456G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182183.1:p.Pro152="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713798"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830379853",
      "coordinates": [
        {
          "allele": "T",
          "end": 790,
          "referenceAllele": "G",
          "start": 789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NM_175073.3:c.618G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_778243.1:p.Pro206="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729616"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 569,
          "referenceAllele": "G",
          "start": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NR_036577.2:n.569G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730341"
    }
  ],
  "type": "nucleotide"
}