{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA038949",
  "communityStandardTitle": [
    "NM_000038.6(APC):c.4395T>A (p.Ser1465Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=212427[alleleid]",
        "alleleId": 212427,
        "preferredName": "NM_000038.6(APC):c.4395T>A (p.Ser1465Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/216164",
        "RCV": [
          "RCV000198718",
          "RCV000236990",
          "RCV000446409",
          "RCV000766728",
          "RCV003534469",
          "RCV003996975"
        ],
        "variationId": 216164
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-112175686-T-A",
        "id": "5-112175686-T-A",
        "variant": "5:112175686 T / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.112175686T>A?assembly=hg19",
        "id": "chr5:g.112175686T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.112839989T>A?assembly=hg38",
        "id": "chr5:g.112839989T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/779898882",
        "rs": 779898882
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-112175686-T-A?dataset=gnomad_r2_1",
        "id": "5-112175686-T-A",
        "variant": "5:112175686 T / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-112839989-T-A?dataset=gnomad_r3",
        "id": "5-112839989-T-A",
        "variant": "5:112839989 T / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-112839989-T-A?dataset=gnomad_r4",
        "id": "5-112839989-T-A",
        "variant": "5:112839989 T / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 112839989,
          "referenceAllele": "T",
          "start": 112839988
        }
      ],
      "hgvs": [
        "NC_000005.10:g.112839989T>A",
        "CM000667.2:g.112839989T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 112175686,
          "referenceAllele": "T",
          "start": 112175685
        }
      ],
      "hgvs": [
        "NC_000005.9:g.112175686T>A",
        "CM000667.1:g.112175686T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 112203585,
          "referenceAllele": "T",
          "start": 112203584
        }
      ],
      "hgvs": [
        "NC_000005.8:g.112203585T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 152469,
          "referenceAllele": "T",
          "start": 152468
        }
      ],
      "hgvs": [
        "NG_008481.4:g.152469T>A",
        "LRG_130:g.152469T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001117"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4505,
          "referenceAllele": "T",
          "start": 4504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000504915.3:c.4449T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473355.2:p.Ser1483Arg",
        "hgvsWellDefined": "ENSP00000473355.2:p.Ser1483Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914183"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4775,
          "referenceAllele": "T",
          "start": 4774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000505350.2:c.*4401T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481752.1:n.*4401T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914185"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4537,
          "referenceAllele": "T",
          "start": 4536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000507379.6:c.4341T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423224.2:p.Ser1447Arg",
        "hgvsWellDefined": "ENSP00000423224.2:p.Ser1447Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914189"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4545,
          "referenceAllele": "T",
          "start": 4544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000509732.6:c.4395T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426541.2:p.Ser1465Arg",
        "hgvsWellDefined": "ENSP00000426541.2:p.Ser1465Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914195"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4746,
          "referenceAllele": "T",
          "start": 4745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000512211.7:c.4395T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423828.3:p.Ser1465Arg",
        "hgvsWellDefined": "ENSP00000423828.3:p.Ser1465Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914202"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4454,
          "referenceAllele": "T",
          "start": 4453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000257430.9:c.4395T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257430.4:p.Ser1465Arg",
        "hgvsWellDefined": "ENSP00000257430.4:p.Ser1465Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741831",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000257430.9:c.4395T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000038.6:c.4395T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000257430.4:p.Ser1465Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000029.2:p.Ser1465Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4451,
          "referenceAllele": "T",
          "start": 4450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000257430.8:c.4395T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257430.4:p.Ser1465Arg",
        "hgvsWellDefined": "ENSP00000257430.4:p.Ser1465Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247400"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4552,
          "referenceAllele": "T",
          "start": 4551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000508376.6:c.4395T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427089.2:p.Ser1465Arg",
        "hgvsWellDefined": "ENSP00000427089.2:p.Ser1465Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247198"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4640,
          "referenceAllele": "T",
          "start": 4639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000508624.5:c.*3717T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424265.1:n.*3717T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339602"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 230,
          "endIntronDirection": "+",
          "endIntronOffset": 11017,
          "referenceAllele": "T",
          "start": 230,
          "startIntronDirection": "+",
          "startIntronOffset": 11016
        }
      ],
      "hgvs": [
        "ENST00000520401.1:c.230+11017T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS347453"
    },
    {
      "@id": "http://reg.genome.network/allele/PA338140",
      "coordinates": [
        {
          "allele": "A",
          "end": 4480,
          "referenceAllele": "T",
          "start": 4479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_000038.5:c.4395T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000029.2:p.Ser1465Arg",
        "hgvsWellDefined": "NP_000029.2:p.Ser1465Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006103"
    },
    {
      "@id": "http://reg.genome.network/allele/PA338141",
      "coordinates": [
        {
          "allele": "A",
          "end": 4588,
          "referenceAllele": "T",
          "start": 4587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127510.2:c.4395T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120982.1:p.Ser1465Arg",
        "hgvsWellDefined": "NP_001120982.1:p.Ser1465Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011634"
    },
    {
      "@id": "http://reg.genome.network/allele/PA338139",
      "coordinates": [
        {
          "allele": "A",
          "end": 4554,
          "referenceAllele": "T",
          "start": 4553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127511.2:c.4341T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120983.2:p.Ser1447Arg",
        "hgvsWellDefined": "NP_001120983.2:p.Ser1447Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011635"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827944137",
      "coordinates": [
        {
          "allele": "A",
          "end": 4791,
          "referenceAllele": "T",
          "start": 4790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354895.1:c.4395T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341824.1:p.Ser1465Arg",
        "hgvsWellDefined": "NP_001341824.1:p.Ser1465Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522733"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916040250",
      "coordinates": [
        {
          "allele": "A",
          "end": 4534,
          "referenceAllele": "T",
          "start": 4533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354896.1:c.4449T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341825.1:p.Ser1483Arg",
        "hgvsWellDefined": "NP_001341825.1:p.Ser1483Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522734"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827958823",
      "coordinates": [
        {
          "allele": "A",
          "end": 4638,
          "referenceAllele": "T",
          "start": 4637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354897.1:c.4425T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341826.1:p.Ser1475Arg",
        "hgvsWellDefined": "NP_001341826.1:p.Ser1475Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522735"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827967962",
      "coordinates": [
        {
          "allele": "A",
          "end": 4435,
          "referenceAllele": "T",
          "start": 4434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354898.1:c.4320T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341827.1:p.Ser1440Arg",
        "hgvsWellDefined": "NP_001341827.1:p.Ser1440Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522736"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827977134",
      "coordinates": [
        {
          "allele": "A",
          "end": 4396,
          "referenceAllele": "T",
          "start": 4395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354899.1:c.4311T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341828.1:p.Ser1437Arg",
        "hgvsWellDefined": "NP_001341828.1:p.Ser1437Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522737"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827986213",
      "coordinates": [
        {
          "allele": "A",
          "end": 4381,
          "referenceAllele": "T",
          "start": 4380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354900.1:c.4272T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341829.1:p.Ser1424Arg",
        "hgvsWellDefined": "NP_001341829.1:p.Ser1424Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522738"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827995277",
      "coordinates": [
        {
          "allele": "A",
          "end": 4327,
          "referenceAllele": "T",
          "start": 4326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354901.1:c.4218T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341830.1:p.Ser1406Arg",
        "hgvsWellDefined": "NP_001341830.1:p.Ser1406Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522739"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828008871",
      "coordinates": [
        {
          "allele": "A",
          "end": 4335,
          "referenceAllele": "T",
          "start": 4334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354902.1:c.4122T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341831.1:p.Ser1374Arg",
        "hgvsWellDefined": "NP_001341831.1:p.Ser1374Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522740"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828021813",
      "coordinates": [
        {
          "allele": "A",
          "end": 4177,
          "referenceAllele": "T",
          "start": 4176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354903.1:c.4092T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341832.1:p.Ser1364Arg",
        "hgvsWellDefined": "NP_001341832.1:p.Ser1364Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522741"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828040325",
      "coordinates": [
        {
          "allele": "A",
          "end": 4132,
          "referenceAllele": "T",
          "start": 4131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354904.1:c.4017T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341833.1:p.Ser1339Arg",
        "hgvsWellDefined": "NP_001341833.1:p.Ser1339Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522742"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828006320",
      "coordinates": [
        {
          "allele": "A",
          "end": 4024,
          "referenceAllele": "T",
          "start": 4023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354905.1:c.3915T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341834.1:p.Ser1305Arg",
        "hgvsWellDefined": "NP_001341834.1:p.Ser1305Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522743"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828021716",
      "coordinates": [
        {
          "allele": "A",
          "end": 4666,
          "referenceAllele": "T",
          "start": 4665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354906.1:c.3546T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341835.1:p.Ser1182Arg",
        "hgvsWellDefined": "NP_001341835.1:p.Ser1182Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522744"
    },
    {
      "@id": "http://reg.genome.network/allele/PA338140",
      "coordinates": [
        {
          "allele": "A",
          "end": 4454,
          "referenceAllele": "T",
          "start": 4453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_000038.6:c.4395T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000029.2:p.Ser1465Arg",
        "hgvsWellDefined": "NP_000029.2:p.Ser1465Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662295",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000257430.9:c.4395T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000038.6:c.4395T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000257430.4:p.Ser1465Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000029.2:p.Ser1465Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA338141",
      "coordinates": [
        {
          "allele": "A",
          "end": 4562,
          "referenceAllele": "T",
          "start": 4561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127510.3:c.4395T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120982.1:p.Ser1465Arg",
        "hgvsWellDefined": "NP_001120982.1:p.Ser1465Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676902"
    },
    {
      "@id": "http://reg.genome.network/allele/PA338139",
      "coordinates": [
        {
          "allele": "A",
          "end": 4561,
          "referenceAllele": "T",
          "start": 4560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127511.3:c.4341T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120983.2:p.Ser1447Arg",
        "hgvsWellDefined": "NP_001120983.2:p.Ser1447Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676903"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827944137",
      "coordinates": [
        {
          "allele": "A",
          "end": 4798,
          "referenceAllele": "T",
          "start": 4797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354895.2:c.4395T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341824.1:p.Ser1465Arg",
        "hgvsWellDefined": "NP_001341824.1:p.Ser1465Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690347"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916040250",
      "coordinates": [
        {
          "allele": "A",
          "end": 4508,
          "referenceAllele": "T",
          "start": 4507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354896.2:c.4449T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341825.1:p.Ser1483Arg",
        "hgvsWellDefined": "NP_001341825.1:p.Ser1483Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690348"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827958823",
      "coordinates": [
        {
          "allele": "A",
          "end": 4645,
          "referenceAllele": "T",
          "start": 4644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354897.2:c.4425T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341826.1:p.Ser1475Arg",
        "hgvsWellDefined": "NP_001341826.1:p.Ser1475Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690349"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827967962",
      "coordinates": [
        {
          "allele": "A",
          "end": 4409,
          "referenceAllele": "T",
          "start": 4408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354898.2:c.4320T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341827.1:p.Ser1440Arg",
        "hgvsWellDefined": "NP_001341827.1:p.Ser1440Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690350"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827977134",
      "coordinates": [
        {
          "allele": "A",
          "end": 4370,
          "referenceAllele": "T",
          "start": 4369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354899.2:c.4311T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341828.1:p.Ser1437Arg",
        "hgvsWellDefined": "NP_001341828.1:p.Ser1437Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690351"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827986213",
      "coordinates": [
        {
          "allele": "A",
          "end": 4355,
          "referenceAllele": "T",
          "start": 4354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354900.2:c.4272T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341829.1:p.Ser1424Arg",
        "hgvsWellDefined": "NP_001341829.1:p.Ser1424Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690352"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827995277",
      "coordinates": [
        {
          "allele": "A",
          "end": 4301,
          "referenceAllele": "T",
          "start": 4300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354901.2:c.4218T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341830.1:p.Ser1406Arg",
        "hgvsWellDefined": "NP_001341830.1:p.Ser1406Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690353"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828008871",
      "coordinates": [
        {
          "allele": "A",
          "end": 4342,
          "referenceAllele": "T",
          "start": 4341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354902.2:c.4122T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341831.1:p.Ser1374Arg",
        "hgvsWellDefined": "NP_001341831.1:p.Ser1374Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690354"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828021813",
      "coordinates": [
        {
          "allele": "A",
          "end": 4151,
          "referenceAllele": "T",
          "start": 4150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354903.2:c.4092T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341832.1:p.Ser1364Arg",
        "hgvsWellDefined": "NP_001341832.1:p.Ser1364Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690355"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828040325",
      "coordinates": [
        {
          "allele": "A",
          "end": 4106,
          "referenceAllele": "T",
          "start": 4105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354904.2:c.4017T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341833.1:p.Ser1339Arg",
        "hgvsWellDefined": "NP_001341833.1:p.Ser1339Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690356"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828006320",
      "coordinates": [
        {
          "allele": "A",
          "end": 3998,
          "referenceAllele": "T",
          "start": 3997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354905.2:c.3915T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341834.1:p.Ser1305Arg",
        "hgvsWellDefined": "NP_001341834.1:p.Ser1305Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690357"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828021716",
      "coordinates": [
        {
          "allele": "A",
          "end": 4640,
          "referenceAllele": "T",
          "start": 4639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354906.2:c.3546T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341835.1:p.Ser1182Arg",
        "hgvsWellDefined": "NP_001341835.1:p.Ser1182Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690358"
    }
  ],
  "type": "nucleotide"
}