{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA289505",
  "communityStandardTitle": [
    "NM_001195248.2(APTX):c.971A>T (p.Gln324Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=140119[alleleid]",
        "alleleId": 140119,
        "preferredName": "NM_001195248.2(APTX):c.971A>T (p.Gln324Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/136416",
        "RCV": [
          "RCV000123682",
          "RCV000407383",
          "RCV000513413",
          "RCV000612640",
          "RCV003905189"
        ],
        "variationId": 136416
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-32973554-T-A",
        "id": "9-32973554-T-A",
        "variant": "9:32973554 T / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.32973554T>A?assembly=hg19",
        "id": "chr9:g.32973554T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.32973556T>A?assembly=hg38",
        "id": "chr9:g.32973556T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/141493373",
        "rs": 141493373
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-32973554-T-A?dataset=gnomad_r2_1",
        "id": "9-32973554-T-A",
        "variant": "9:32973554 T / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-32973556-T-A?dataset=gnomad_r3",
        "id": "9-32973556-T-A",
        "variant": "9:32973556 T / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-32973556-T-A?dataset=gnomad_r4",
        "id": "9-32973556-T-A",
        "variant": "9:32973556 T / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 32973556,
          "referenceAllele": "T",
          "start": 32973555
        }
      ],
      "hgvs": [
        "NC_000009.12:g.32973556T>A",
        "CM000671.2:g.32973556T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 32973554,
          "referenceAllele": "T",
          "start": 32973553
        }
      ],
      "hgvs": [
        "NC_000009.11:g.32973554T>A",
        "CM000671.1:g.32973554T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 32963554,
          "referenceAllele": "T",
          "start": 32963553
        }
      ],
      "hgvs": [
        "NC_000009.10:g.32963554T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 33073,
          "referenceAllele": "A",
          "start": 33072
        }
      ],
      "hgvs": [
        "NG_012821.1:g.33073A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002554"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 56576,
          "referenceAllele": "A",
          "start": 56575
        }
      ],
      "hgvs": [
        "NG_012821.2:g.56576A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706112"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 893,
          "referenceAllele": "A",
          "start": 892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000309615.8:c.809A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000311547.4:p.Gln270Leu",
        "hgvsWellDefined": "ENSP00000311547.4:p.Gln270Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745558"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1037,
          "referenceAllele": "A",
          "start": 1036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000379817.7:c.971A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369145.2:p.Gln324Leu",
        "hgvsWellDefined": "ENSP00000369145.2:p.Gln324Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752285",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000379817.7:c.971A>T"
          },
          "RefSeq": {
            "hgvs": "NM_001195248.2:c.971A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369145.2:p.Gln324Leu"
          },
          "RefSeq": {
            "hgvs": "NP_001182177.2:p.Gln324Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1135,
          "referenceAllele": "A",
          "start": 1134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000379819.6:c.971A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369147.2:p.Gln324Leu",
        "hgvsWellDefined": "ENSP00000369147.2:p.Gln324Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752287"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1073,
          "referenceAllele": "A",
          "start": 1072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000379825.7:c.*128A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369153.3:n.*128A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752288"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 800,
          "referenceAllele": "A",
          "start": 799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000397172.8:c.755A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380357.4:p.Gln252Leu",
        "hgvsWellDefined": "ENSP00000380357.4:p.Gln252Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753615"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 909,
          "referenceAllele": "A",
          "start": 908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000436040.7:c.809A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400806.4:p.Gln270Leu",
        "hgvsWellDefined": "ENSP00000400806.4:p.Gln270Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755594"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 846,
          "referenceAllele": "A",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000460940.6:c.*589A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418311.1:n.*589A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756700"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1165,
          "referenceAllele": "A",
          "start": 1164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000463596.6:c.971A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419846.1:p.Gln324Leu",
        "hgvsWellDefined": "ENSP00000419846.1:p.Gln324Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756774"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 978,
          "referenceAllele": "A",
          "start": 977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000465003.6:c.*701A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419430.2:n.*701A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756820"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1019,
          "referenceAllele": "A",
          "start": 1018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000467331.6:c.*816A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418733.1:n.*816A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756899"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1078,
          "referenceAllele": "A",
          "start": 1077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000468275.6:c.*128A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420263.2:n.*128A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756925"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1026,
          "referenceAllele": "A",
          "start": 1025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000472896.6:c.*765A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417804.2:n.*765A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757080"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 638,
          "referenceAllele": "A",
          "start": 637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000474658.7:c.*414A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417750.3:n.*414A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757125"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 888,
          "referenceAllele": "A",
          "start": 887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000476858.6:c.809A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419042.2:p.Gln270Leu",
        "hgvsWellDefined": "ENSP00000419042.2:p.Gln270Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757207"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 920,
          "referenceAllele": "A",
          "start": 919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000477119.2:c.854A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417649.2:p.Gln285Leu",
        "hgvsWellDefined": "ENSP00000417649.2:p.Gln285Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757216"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1123,
          "referenceAllele": "A",
          "start": 1122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000479656.6:c.*816A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420071.1:n.*816A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757310"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 915,
          "referenceAllele": "A",
          "start": 914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000482687.6:c.*589A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419289.2:n.*589A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757416"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1115,
          "referenceAllele": "A",
          "start": 1114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000483148.6:c.*598A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419723.1:n.*598A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757431"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 912,
          "referenceAllele": "A",
          "start": 911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000485479.6:c.*692A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418144.1:n.*692A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757507"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1004,
          "referenceAllele": "A",
          "start": 1003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000495360.6:c.*714A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419623.2:n.*714A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757802"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1000,
          "referenceAllele": "A",
          "start": 999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000671774.1:n.1000A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773167"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 640,
          "referenceAllele": "A",
          "start": 639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000671912.1:c.*165A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500871.1:n.*165A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773209"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 941,
          "referenceAllele": "A",
          "start": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000672152.1:n.941A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773291"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 622,
          "referenceAllele": "A",
          "start": 621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000672244.1:c.*165A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499875.1:n.*165A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773316"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1168,
          "referenceAllele": "A",
          "start": 1167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000672281.1:n.1168A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773330"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1232,
          "referenceAllele": "A",
          "start": 1231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000672286.1:n.1232A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773334"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 900,
          "referenceAllele": "A",
          "start": 899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000672438.1:c.707A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499997.1:p.Gln236Leu",
        "hgvsWellDefined": "ENSP00000499997.1:p.Gln236Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773385"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1163,
          "referenceAllele": "A",
          "start": 1162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000672476.1:n.1163A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773394"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2315,
          "referenceAllele": "A",
          "start": 2314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000672493.1:n.2315A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773399"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 640,
          "endIntronDirection": "+",
          "endIntronOffset": 12415,
          "referenceAllele": "A",
          "start": 640,
          "startIntronDirection": "+",
          "startIntronOffset": 12414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000672519.1:c.*388+12415A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500320.1:n.*388+12415A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773406"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1681,
          "referenceAllele": "A",
          "start": 1680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000672535.1:c.*1506A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499872.1:n.*1506A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773408"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1048,
          "referenceAllele": "A",
          "start": 1047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000672615.1:n.1048A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773435"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 897,
          "referenceAllele": "A",
          "start": 896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000672846.1:c.*701A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500396.1:n.*701A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773511"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 821,
          "referenceAllele": "A",
          "start": 820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000673171.1:n.821A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773603"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1541,
          "referenceAllele": "A",
          "start": 1540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000673181.1:n.1541A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773606"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1053,
          "referenceAllele": "A",
          "start": 1052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000673211.1:n.1053A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773615"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1095,
          "referenceAllele": "A",
          "start": 1094
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000673248.1:c.707A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500601.1:p.Gln236Leu",
        "hgvsWellDefined": "ENSP00000500601.1:p.Gln236Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773633"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1249,
          "referenceAllele": "A",
          "start": 1248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000673333.1:n.1249A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773652"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 884,
          "referenceAllele": "A",
          "start": 883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000673360.1:c.*414A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500360.1:n.*414A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773658"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1097,
          "referenceAllele": "A",
          "start": 1096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000673416.1:c.707A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500738.1:p.Gln236Leu",
        "hgvsWellDefined": "ENSP00000500738.1:p.Gln236Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773672"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1168,
          "referenceAllele": "A",
          "start": 1167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000673485.1:n.1168A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773700"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1182,
          "referenceAllele": "A",
          "start": 1181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000673487.1:c.*701A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500943.1:n.*701A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773701"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 499,
          "referenceAllele": "A",
          "start": 498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000673598.1:c.449A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499991.1:p.Gln150Leu",
        "hgvsWellDefined": "ENSP00000499991.1:p.Gln150Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773730"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 910,
          "referenceAllele": "A",
          "start": 909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000309615.7:c.809A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000311547.4:p.Gln270Leu",
        "hgvsWellDefined": "ENSP00000311547.4:p.Gln270Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256233"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 961,
          "referenceAllele": "A",
          "start": 960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000379813.7:c.953A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369141.4:p.Gln318Leu",
        "hgvsWellDefined": "ENSP00000369141.4:p.Gln318Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272655"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1168,
          "referenceAllele": "A",
          "start": 1167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000379817.6:c.971A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369145.2:p.Gln324Leu",
        "hgvsWellDefined": "ENSP00000369145.2:p.Gln324Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272657"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1013,
          "referenceAllele": "A",
          "start": 1012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000379819.5:c.1013A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369147.1:p.Gln338Leu",
        "hgvsWellDefined": "ENSP00000369147.1:p.Gln338Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272659"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1073,
          "referenceAllele": "A",
          "start": 1072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000379825.6:c.*128A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369153.2:n.*128A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272661"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 800,
          "referenceAllele": "A",
          "start": 799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000397172.7:c.797A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380357.3:p.Gln266Leu",
        "hgvsWellDefined": "ENSP00000380357.3:p.Gln266Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277661"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1219,
          "referenceAllele": "A",
          "start": 1218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000436040.6:c.971A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400806.3:p.Gln324Leu",
        "hgvsWellDefined": "ENSP00000400806.3:p.Gln324Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS293787"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 936,
          "referenceAllele": "A",
          "start": 935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000460940.5:c.*589A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418311.1:n.*589A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305574"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1165,
          "referenceAllele": "A",
          "start": 1164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000463596.5:c.971A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419846.1:p.Gln324Leu",
        "hgvsWellDefined": "ENSP00000419846.1:p.Gln324Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS307597"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1053,
          "referenceAllele": "A",
          "start": 1052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000465003.5:c.*598A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419430.1:n.*598A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS308697"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1163,
          "referenceAllele": "A",
          "start": 1162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000467331.5:c.*816A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418733.1:n.*816A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS310490"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1064,
          "referenceAllele": "A",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000468275.5:c.971A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420263.1:p.Gln324Leu",
        "hgvsWellDefined": "ENSP00000420263.1:p.Gln324Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS311225"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 821,
          "referenceAllele": "A",
          "start": 820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000472896.5:c.*474A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417804.1:n.*474A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS314767"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 638,
          "referenceAllele": "A",
          "start": 637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000474658.6:c.638A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316120"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 888,
          "referenceAllele": "A",
          "start": 887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000476858.5:c.851A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419042.1:p.Gln284Leu",
        "hgvsWellDefined": "ENSP00000419042.1:p.Gln284Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS317807"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1088,
          "referenceAllele": "A",
          "start": 1087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000479656.5:c.*816A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420071.1:n.*816A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS319980"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 941,
          "referenceAllele": "A",
          "start": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000482687.5:c.*165A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419289.1:n.*165A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS322322"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 826,
          "referenceAllele": "A",
          "start": 825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000483148.5:c.*371A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419723.1:n.*371A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS322686"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1048,
          "referenceAllele": "A",
          "start": 1047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000485479.5:c.*701A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418144.1:n.*701A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS324495"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1159,
          "referenceAllele": "A",
          "start": 1158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000494649.5:c.*816A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417634.1:n.*816A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS331527"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1164,
          "referenceAllele": "A",
          "start": 1163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "ENST00000495360.5:c.*701A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419623.1:n.*701A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS332074"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913201766",
      "coordinates": [
        {
          "allele": "T",
          "end": 1050,
          "referenceAllele": "A",
          "start": 1049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NM_001195248.1:c.1013A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182177.1:p.Gln338Leu",
        "hgvsWellDefined": "NP_001182177.1:p.Gln338Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016564"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826200007",
      "coordinates": [
        {
          "allele": "T",
          "end": 1219,
          "referenceAllele": "A",
          "start": 1218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NM_001195249.1:c.971A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182178.1:p.Gln324Leu",
        "hgvsWellDefined": "NP_001182178.1:p.Gln324Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016565"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 888,
          "referenceAllele": "A",
          "start": 887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NM_001195250.1:c.851A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182179.1:p.Gln284Leu",
        "hgvsWellDefined": "NP_001182179.1:p.Gln284Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016566"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1192,
          "referenceAllele": "A",
          "start": 1191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NM_001195251.1:c.*128A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182180.1:n.*128A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016567"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 834,
          "referenceAllele": "A",
          "start": 833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NM_001195252.1:c.797A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182181.1:p.Gln266Leu",
        "hgvsWellDefined": "NP_001182181.1:p.Gln266Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016568"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826200446",
      "coordinates": [
        {
          "allele": "T",
          "end": 910,
          "referenceAllele": "A",
          "start": 909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NM_001195254.1:c.809A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182183.1:p.Gln270Leu",
        "hgvsWellDefined": "NP_001182183.1:p.Gln270Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016569"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1086,
          "referenceAllele": "A",
          "start": 1085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NM_175069.2:c.*128A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_778239.1:n.*128A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043162"
    },
    {
      "@id": "http://reg.genome.network/allele/PA289506",
      "coordinates": [
        {
          "allele": "T",
          "end": 1156,
          "referenceAllele": "A",
          "start": 1155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NM_175073.2:c.971A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_778243.1:p.Gln324Leu",
        "hgvsWellDefined": "NP_778243.1:p.Gln324Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043163"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1045,
          "referenceAllele": "A",
          "start": 1044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NR_036576.1:n.1045A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS049798"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 935,
          "referenceAllele": "A",
          "start": 934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NR_036577.1:n.935A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS049799"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1067,
          "referenceAllele": "A",
          "start": 1066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NR_036578.1:n.1067A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS049800"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1214,
          "referenceAllele": "A",
          "start": 1213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NR_036579.1:n.1214A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS049801"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1058,
          "referenceAllele": "A",
          "start": 1057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "XM_006716791.2:c.971A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716854.1:p.Gln324Leu",
        "hgvsWellDefined": "XP_006716854.1:p.Gln324Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071843"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1076,
          "referenceAllele": "A",
          "start": 1075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "XM_006716792.2:c.707A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716855.1:p.Gln236Leu",
        "hgvsWellDefined": "XP_006716855.1:p.Gln236Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071844"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1058,
          "referenceAllele": "A",
          "start": 1057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "XM_011517936.1:c.707A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516238.1:p.Gln236Leu",
        "hgvsWellDefined": "XP_011516238.1:p.Gln236Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085118"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1067,
          "referenceAllele": "A",
          "start": 1066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "XM_011517937.1:c.707A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516239.1:p.Gln236Leu",
        "hgvsWellDefined": "XP_011516239.1:p.Gln236Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085119"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1034,
          "referenceAllele": "A",
          "start": 1033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "XM_011517938.1:c.707A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516240.1:p.Gln236Leu",
        "hgvsWellDefined": "XP_011516240.1:p.Gln236Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085120"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1003,
          "referenceAllele": "A",
          "start": 1002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "XM_011517939.1:c.707A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516241.1:p.Gln236Leu",
        "hgvsWellDefined": "XP_011516241.1:p.Gln236Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085121"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 823,
          "referenceAllele": "A",
          "start": 822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "XR_428423.2:n.823A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118052"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1422,
          "referenceAllele": "A",
          "start": 1421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "XR_929276.1:n.1422A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS125487"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1445,
          "referenceAllele": "A",
          "start": 1444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "XR_929277.1:n.1445A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS125488"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1058,
          "referenceAllele": "A",
          "start": 1057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "XM_006716791.4:c.971A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716854.1:p.Gln324Leu",
        "hgvsWellDefined": "XP_006716854.1:p.Gln324Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539251"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1071,
          "referenceAllele": "A",
          "start": 1070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "XM_006716792.3:c.707A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716855.1:p.Gln236Leu",
        "hgvsWellDefined": "XP_006716855.1:p.Gln236Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539252"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1029,
          "referenceAllele": "A",
          "start": 1028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "XM_011517938.2:c.707A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516240.1:p.Gln236Leu",
        "hgvsWellDefined": "XP_011516240.1:p.Gln236Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544725"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 967,
          "referenceAllele": "A",
          "start": 966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "XM_011517939.3:c.707A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516241.1:p.Gln236Leu",
        "hgvsWellDefined": "XP_011516241.1:p.Gln236Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544726"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 849,
          "endIntronDirection": "-",
          "endIntronOffset": 6782,
          "referenceAllele": "A",
          "start": 849,
          "startIntronDirection": "-",
          "startIntronOffset": 6783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "XM_017014831.1:c.813-6783A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870320.1:n.813-6783A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567693"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 849,
          "endIntronDirection": "-",
          "endIntronOffset": 6782,
          "referenceAllele": "A",
          "start": 849,
          "startIntronDirection": "-",
          "startIntronOffset": 6783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "XM_017014832.1:c.813-6783A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870321.1:n.813-6783A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567694"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 849,
          "endIntronDirection": "-",
          "endIntronOffset": 6782,
          "referenceAllele": "A",
          "start": 849,
          "startIntronDirection": "-",
          "startIntronOffset": 6783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "XM_017014833.2:c.813-6783A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870322.1:n.813-6783A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567695"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 849,
          "endIntronDirection": "-",
          "endIntronOffset": 6782,
          "referenceAllele": "A",
          "start": 849,
          "startIntronDirection": "-",
          "startIntronOffset": 6783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "XM_017014836.2:c.813-6783A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870325.1:n.813-6783A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567696"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1140,
          "referenceAllele": "A",
          "start": 1139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "XM_017014837.2:c.809A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870326.1:p.Gln270Leu",
        "hgvsWellDefined": "XP_016870326.1:p.Gln270Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567697"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1068,
          "referenceAllele": "A",
          "start": 1067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "XM_017014838.1:c.*128A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870327.1:n.*128A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567698"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1290,
          "referenceAllele": "A",
          "start": 1289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "XM_024447575.1:c.971A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303343.1:p.Gln324Leu",
        "hgvsWellDefined": "XP_024303343.1:p.Gln324Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581156"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1106,
          "referenceAllele": "A",
          "start": 1105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "XM_024447576.1:c.971A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303344.1:p.Gln324Leu",
        "hgvsWellDefined": "XP_024303344.1:p.Gln324Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581157"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1075,
          "referenceAllele": "A",
          "start": 1074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "XM_024447577.1:c.971A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303345.1:p.Gln324Leu",
        "hgvsWellDefined": "XP_024303345.1:p.Gln324Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581158"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 849,
          "endIntronDirection": "-",
          "endIntronOffset": 6782,
          "referenceAllele": "A",
          "start": 849,
          "startIntronDirection": "-",
          "startIntronOffset": 6783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "XM_024447578.1:c.813-6783A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303346.1:n.813-6783A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581159"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1339,
          "referenceAllele": "A",
          "start": 1338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "XM_024447579.1:c.*128A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303347.1:n.*128A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581160"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 911,
          "referenceAllele": "A",
          "start": 910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "XM_024447580.1:c.809A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303348.1:p.Gln270Leu",
        "hgvsWellDefined": "XP_024303348.1:p.Gln270Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581161"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1287,
          "referenceAllele": "A",
          "start": 1286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "XM_024447581.1:c.707A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303349.1:p.Gln236Leu",
        "hgvsWellDefined": "XP_024303349.1:p.Gln236Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581162"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1092,
          "referenceAllele": "A",
          "start": 1091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "XM_024447582.1:c.707A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303350.1:p.Gln236Leu",
        "hgvsWellDefined": "XP_024303350.1:p.Gln236Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581163"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1481,
          "referenceAllele": "A",
          "start": 1480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "XR_001746325.2:n.1481A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594665"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1430,
          "referenceAllele": "A",
          "start": 1429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "XR_001746326.2:n.1430A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594666"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 823,
          "referenceAllele": "A",
          "start": 822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "XR_428423.3:n.823A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606552"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1422,
          "referenceAllele": "A",
          "start": 1421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "XR_929276.3:n.1422A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS609141"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1445,
          "referenceAllele": "A",
          "start": 1444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "XR_929277.3:n.1445A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS609142"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826199882",
      "coordinates": [
        {
          "allele": "T",
          "end": 1037,
          "referenceAllele": "A",
          "start": 1036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NM_001195248.2:c.971A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182177.2:p.Gln324Leu",
        "hgvsWellDefined": "NP_001182177.2:p.Gln324Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679293",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000379817.7:c.971A>T"
          },
          "RefSeq": {
            "hgvs": "NM_001195248.2:c.971A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369145.2:p.Gln324Leu"
          },
          "RefSeq": {
            "hgvs": "NP_001182177.2:p.Gln324Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826200122",
      "coordinates": [
        {
          "allele": "T",
          "end": 875,
          "referenceAllele": "A",
          "start": 874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NM_001195250.2:c.809A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182179.2:p.Gln270Leu",
        "hgvsWellDefined": "NP_001182179.2:p.Gln270Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679294"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826200332",
      "coordinates": [
        {
          "allele": "T",
          "end": 821,
          "referenceAllele": "A",
          "start": 820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NM_001195252.2:c.755A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182181.2:p.Gln252Leu",
        "hgvsWellDefined": "NP_001182181.2:p.Gln252Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679295"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828304355",
      "coordinates": [
        {
          "allele": "T",
          "end": 1096,
          "referenceAllele": "A",
          "start": 1095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NM_001368995.1:c.971A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355924.1:p.Gln324Leu",
        "hgvsWellDefined": "NP_001355924.1:p.Gln324Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691496"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828304481",
      "coordinates": [
        {
          "allele": "T",
          "end": 1073,
          "referenceAllele": "A",
          "start": 1072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NM_001368996.1:c.971A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355925.1:p.Gln324Leu",
        "hgvsWellDefined": "NP_001355925.1:p.Gln324Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691497"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828304607",
      "coordinates": [
        {
          "allele": "T",
          "end": 1292,
          "referenceAllele": "A",
          "start": 1291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NM_001368997.1:c.971A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355926.1:p.Gln324Leu",
        "hgvsWellDefined": "NP_001355926.1:p.Gln324Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691498"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828304733",
      "coordinates": [
        {
          "allele": "T",
          "end": 1088,
          "referenceAllele": "A",
          "start": 1087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NM_001368998.1:c.971A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355927.1:p.Gln324Leu",
        "hgvsWellDefined": "NP_001355927.1:p.Gln324Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691499"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1328,
          "referenceAllele": "A",
          "start": 1327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NM_001368999.1:c.*128A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355928.1:n.*128A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691500"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828304957",
      "coordinates": [
        {
          "allele": "T",
          "end": 1130,
          "referenceAllele": "A",
          "start": 1129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NM_001369000.1:c.809A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355929.1:p.Gln270Leu",
        "hgvsWellDefined": "NP_001355929.1:p.Gln270Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691501"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828305058",
      "coordinates": [
        {
          "allele": "T",
          "end": 911,
          "referenceAllele": "A",
          "start": 910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NM_001369001.1:c.809A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355930.1:p.Gln270Leu",
        "hgvsWellDefined": "NP_001355930.1:p.Gln270Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691502"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828305150",
      "coordinates": [
        {
          "allele": "T",
          "end": 1091,
          "referenceAllele": "A",
          "start": 1090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NM_001369002.1:c.707A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355931.1:p.Gln236Leu",
        "hgvsWellDefined": "NP_001355931.1:p.Gln236Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691503"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828305242",
      "coordinates": [
        {
          "allele": "T",
          "end": 1287,
          "referenceAllele": "A",
          "start": 1286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NM_001369003.1:c.707A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355932.1:p.Gln236Leu",
        "hgvsWellDefined": "NP_001355932.1:p.Gln236Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691504"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828305334",
      "coordinates": [
        {
          "allele": "T",
          "end": 990,
          "referenceAllele": "A",
          "start": 989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NM_001369004.1:c.707A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355933.1:p.Gln236Leu",
        "hgvsWellDefined": "NP_001355933.1:p.Gln236Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691505"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828305426",
      "coordinates": [
        {
          "allele": "T",
          "end": 1138,
          "referenceAllele": "A",
          "start": 1137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NM_001369005.1:c.707A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355934.1:p.Gln236Leu",
        "hgvsWellDefined": "NP_001355934.1:p.Gln236Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691506"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1068,
          "referenceAllele": "A",
          "start": 1067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NM_001369006.1:c.*128A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355935.1:n.*128A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691507"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828446622",
      "coordinates": [
        {
          "allele": "T",
          "end": 1032,
          "referenceAllele": "A",
          "start": 1031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NM_001370669.1:c.707A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357598.1:p.Gln236Leu",
        "hgvsWellDefined": "NP_001357598.1:p.Gln236Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692583"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828446823",
      "coordinates": [
        {
          "allele": "T",
          "end": 1083,
          "referenceAllele": "A",
          "start": 1082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NM_001370670.1:c.707A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357599.1:p.Gln236Leu",
        "hgvsWellDefined": "NP_001357599.1:p.Gln236Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692584"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828447025",
      "coordinates": [
        {
          "allele": "T",
          "end": 1266,
          "referenceAllele": "A",
          "start": 1265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NM_001370673.1:c.707A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357602.1:p.Gln236Leu",
        "hgvsWellDefined": "NP_001357602.1:p.Gln236Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692585"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1073,
          "referenceAllele": "A",
          "start": 1072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NM_175069.3:c.*128A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_778239.2:n.*128A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700713"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 810,
          "referenceAllele": "A",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NR_160920.1:n.810A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705226"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 941,
          "referenceAllele": "A",
          "start": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NR_160921.1:n.941A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705227"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1172,
          "referenceAllele": "A",
          "start": 1171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NR_160922.1:n.1172A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705228"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 976,
          "referenceAllele": "A",
          "start": 975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NR_160923.1:n.976A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705229"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 981,
          "referenceAllele": "A",
          "start": 980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NR_160924.1:n.981A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705230"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1177,
          "referenceAllele": "A",
          "start": 1176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NR_160925.1:n.1177A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705231"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 967,
          "referenceAllele": "A",
          "start": 966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NR_160926.1:n.967A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705232"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1060,
          "referenceAllele": "A",
          "start": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NR_160927.1:n.1060A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705233"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 986,
          "referenceAllele": "A",
          "start": 985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NR_160928.1:n.986A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705234"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 864,
          "referenceAllele": "A",
          "start": 863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NR_160929.1:n.864A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705235"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 917,
          "referenceAllele": "A",
          "start": 916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NR_160930.1:n.917A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705236"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1156,
          "referenceAllele": "A",
          "start": 1155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NR_160931.1:n.1156A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705237"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826200007",
      "coordinates": [
        {
          "allele": "T",
          "end": 1271,
          "referenceAllele": "A",
          "start": 1270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NM_001195249.2:c.971A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182178.1:p.Gln324Leu",
        "hgvsWellDefined": "NP_001182178.1:p.Gln324Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713796"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1179,
          "referenceAllele": "A",
          "start": 1178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NM_001195251.2:c.*128A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182180.1:n.*128A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713797"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826200446",
      "coordinates": [
        {
          "allele": "T",
          "end": 926,
          "referenceAllele": "A",
          "start": 925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NM_001195254.2:c.809A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182183.1:p.Gln270Leu",
        "hgvsWellDefined": "NP_001182183.1:p.Gln270Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713798"
    },
    {
      "@id": "http://reg.genome.network/allele/PA289506",
      "coordinates": [
        {
          "allele": "T",
          "end": 1143,
          "referenceAllele": "A",
          "start": 1142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NM_175073.3:c.971A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_778243.1:p.Gln324Leu",
        "hgvsWellDefined": "NP_778243.1:p.Gln324Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729616"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 922,
          "referenceAllele": "A",
          "start": 921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NR_036577.2:n.922A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730341"
    }
  ],
  "type": "nucleotide"
}