{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA005150",
  "communityStandardTitle": [
    "NM_000038.6(APC):c.1441G>A (p.Val481Met)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=136470[alleleid]",
        "alleleId": 136470,
        "preferredName": "NM_000038.6(APC):c.1441G>A (p.Val481Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/132722",
        "RCV": [
          "RCV000119171",
          "RCV000585957",
          "RCV000164862",
          "RCV002469015",
          "RCV003650375",
          "RCV003997301"
        ],
        "variationId": 132722
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-112162837-G-A",
        "id": "5-112162837-G-A",
        "variant": "5:112162837 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.112162837G>A?assembly=hg19",
        "id": "chr5:g.112162837G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.112827140G>A?assembly=hg38",
        "id": "chr5:g.112827140G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587780542",
        "rs": 587780542
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-112162837-G-A?dataset=gnomad_r2_1",
        "id": "5-112162837-G-A",
        "variant": "5:112162837 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-112827140-G-A?dataset=gnomad_r3",
        "id": "5-112827140-G-A",
        "variant": "5:112827140 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-112827140-G-A?dataset=gnomad_r4",
        "id": "5-112827140-G-A",
        "variant": "5:112827140 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 112827140,
          "referenceAllele": "G",
          "start": 112827139
        }
      ],
      "hgvs": [
        "NC_000005.10:g.112827140G>A",
        "CM000667.2:g.112827140G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 112162837,
          "referenceAllele": "G",
          "start": 112162836
        }
      ],
      "hgvs": [
        "NC_000005.9:g.112162837G>A",
        "CM000667.1:g.112162837G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 112190736,
          "referenceAllele": "G",
          "start": 112190735
        }
      ],
      "hgvs": [
        "NC_000005.8:g.112190736G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 139620,
          "referenceAllele": "G",
          "start": 139619
        }
      ],
      "hgvs": [
        "NG_008481.4:g.139620G>A",
        "LRG_130:g.139620G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001117"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1408,
          "endIntronDirection": "+",
          "endIntronOffset": 5149,
          "referenceAllele": "G",
          "start": 1408,
          "startIntronDirection": "+",
          "startIntronOffset": 5148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000502371.3:c.1408+5149G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484935.2:n.1408+5149G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914176"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1551,
          "referenceAllele": "G",
          "start": 1550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000504915.3:c.1495G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473355.2:p.Val499Met",
        "hgvsWellDefined": "ENSP00000473355.2:p.Val499Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914183"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1497,
          "referenceAllele": "G",
          "start": 1496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000505084.2:n.1497G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS914184"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1821,
          "referenceAllele": "G",
          "start": 1820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000505350.2:c.*1447G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481752.1:n.*1447G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914185"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1583,
          "referenceAllele": "G",
          "start": 1582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000507379.6:c.1387G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423224.2:p.Val463Met",
        "hgvsWellDefined": "ENSP00000423224.2:p.Val463Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914189"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1591,
          "referenceAllele": "G",
          "start": 1590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000509732.6:c.1441G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426541.2:p.Val481Met",
        "hgvsWellDefined": "ENSP00000426541.2:p.Val481Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914195"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1792,
          "referenceAllele": "G",
          "start": 1791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000512211.7:c.1441G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423828.3:p.Val481Met",
        "hgvsWellDefined": "ENSP00000423828.3:p.Val481Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914202"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1500,
          "referenceAllele": "G",
          "start": 1499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000257430.9:c.1441G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257430.4:p.Val481Met",
        "hgvsWellDefined": "ENSP00000257430.4:p.Val481Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741831",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000257430.9:c.1441G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000038.6:c.1441G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000257430.4:p.Val481Met"
          },
          "RefSeq": {
            "hgvs": "NP_000029.2:p.Val481Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1497,
          "referenceAllele": "G",
          "start": 1496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000257430.8:c.1441G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257430.4:p.Val481Met",
        "hgvsWellDefined": "ENSP00000257430.4:p.Val481Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247400"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 96,
          "endIntronDirection": "+",
          "endIntronOffset": 5149,
          "referenceAllele": "G",
          "start": 96,
          "startIntronDirection": "+",
          "startIntronOffset": 5148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000502371.2:c.96+5149G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334951"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 130,
          "referenceAllele": "G",
          "start": 129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000504915.2:c.130G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473355.1:p.Val44Met",
        "hgvsWellDefined": "ENSP00000473355.1:p.Val44Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246638"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1583,
          "referenceAllele": "G",
          "start": 1582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000507379.5:c.1387G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423224.1:p.Val463Met",
        "hgvsWellDefined": "ENSP00000423224.1:p.Val463Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247315"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1598,
          "referenceAllele": "G",
          "start": 1597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000508376.6:c.1441G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427089.2:p.Val481Met",
        "hgvsWellDefined": "ENSP00000427089.2:p.Val481Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247198"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1686,
          "referenceAllele": "G",
          "start": 1685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000508624.5:c.*763G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424265.1:n.*763G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339602"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1588,
          "referenceAllele": "G",
          "start": 1587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "ENST00000512211.6:c.1441G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423828.2:p.Val481Met",
        "hgvsWellDefined": "ENSP00000423828.2:p.Val481Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247286"
    },
    {
      "@id": "http://reg.genome.network/allele/PA191949",
      "coordinates": [
        {
          "allele": "A",
          "end": 1526,
          "referenceAllele": "G",
          "start": 1525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_000038.5:c.1441G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000029.2:p.Val481Met",
        "hgvsWellDefined": "NP_000029.2:p.Val481Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006103"
    },
    {
      "@id": "http://reg.genome.network/allele/PA191950",
      "coordinates": [
        {
          "allele": "A",
          "end": 1634,
          "referenceAllele": "G",
          "start": 1633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127510.2:c.1441G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120982.1:p.Val481Met",
        "hgvsWellDefined": "NP_001120982.1:p.Val481Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011634"
    },
    {
      "@id": "http://reg.genome.network/allele/PA191948",
      "coordinates": [
        {
          "allele": "A",
          "end": 1600,
          "referenceAllele": "G",
          "start": 1599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127511.2:c.1387G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120983.2:p.Val463Met",
        "hgvsWellDefined": "NP_001120983.2:p.Val463Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011635"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827940971",
      "coordinates": [
        {
          "allele": "A",
          "end": 1837,
          "referenceAllele": "G",
          "start": 1836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354895.1:c.1441G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341824.1:p.Val481Met",
        "hgvsWellDefined": "NP_001341824.1:p.Val481Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522733"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916039516",
      "coordinates": [
        {
          "allele": "A",
          "end": 1580,
          "referenceAllele": "G",
          "start": 1579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354896.1:c.1495G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341825.1:p.Val499Met",
        "hgvsWellDefined": "NP_001341825.1:p.Val499Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522734"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827955663",
      "coordinates": [
        {
          "allele": "A",
          "end": 1684,
          "referenceAllele": "G",
          "start": 1683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354897.1:c.1471G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341826.1:p.Val491Met",
        "hgvsWellDefined": "NP_001341826.1:p.Val491Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522735"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827964801",
      "coordinates": [
        {
          "allele": "A",
          "end": 1481,
          "referenceAllele": "G",
          "start": 1480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354898.1:c.1366G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341827.1:p.Val456Met",
        "hgvsWellDefined": "NP_001341827.1:p.Val456Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522736"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827973960",
      "coordinates": [
        {
          "allele": "A",
          "end": 1442,
          "referenceAllele": "G",
          "start": 1441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354899.1:c.1357G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341828.1:p.Val453Met",
        "hgvsWellDefined": "NP_001341828.1:p.Val453Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522737"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827983059",
      "coordinates": [
        {
          "allele": "A",
          "end": 1427,
          "referenceAllele": "G",
          "start": 1426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354900.1:c.1318G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341829.1:p.Val440Met",
        "hgvsWellDefined": "NP_001341829.1:p.Val440Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522738"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827992133",
      "coordinates": [
        {
          "allele": "A",
          "end": 1373,
          "referenceAllele": "G",
          "start": 1372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354901.1:c.1264G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341830.1:p.Val422Met",
        "hgvsWellDefined": "NP_001341830.1:p.Val422Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522739"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828005435",
      "coordinates": [
        {
          "allele": "A",
          "end": 1381,
          "referenceAllele": "G",
          "start": 1380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354902.1:c.1168G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341831.1:p.Val390Met",
        "hgvsWellDefined": "NP_001341831.1:p.Val390Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522740"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828015687",
      "coordinates": [
        {
          "allele": "A",
          "end": 1223,
          "referenceAllele": "G",
          "start": 1222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354903.1:c.1138G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341832.1:p.Val380Met",
        "hgvsWellDefined": "NP_001341832.1:p.Val380Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522741"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828032722",
      "coordinates": [
        {
          "allele": "A",
          "end": 1178,
          "referenceAllele": "G",
          "start": 1177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354904.1:c.1063G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341833.1:p.Val355Met",
        "hgvsWellDefined": "NP_001341833.1:p.Val355Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522742"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828052753",
      "coordinates": [
        {
          "allele": "A",
          "end": 1070,
          "referenceAllele": "G",
          "start": 1069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354905.1:c.961G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341834.1:p.Val321Met",
        "hgvsWellDefined": "NP_001341834.1:p.Val321Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522743"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828015576",
      "coordinates": [
        {
          "allele": "A",
          "end": 1712,
          "referenceAllele": "G",
          "start": 1711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354906.1:c.592G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341835.1:p.Val198Met",
        "hgvsWellDefined": "NP_001341835.1:p.Val198Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522744"
    },
    {
      "@id": "http://reg.genome.network/allele/PA191949",
      "coordinates": [
        {
          "allele": "A",
          "end": 1500,
          "referenceAllele": "G",
          "start": 1499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_000038.6:c.1441G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000029.2:p.Val481Met",
        "hgvsWellDefined": "NP_000029.2:p.Val481Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662295",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000257430.9:c.1441G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000038.6:c.1441G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000257430.4:p.Val481Met"
          },
          "RefSeq": {
            "hgvs": "NP_000029.2:p.Val481Met"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA191950",
      "coordinates": [
        {
          "allele": "A",
          "end": 1608,
          "referenceAllele": "G",
          "start": 1607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127510.3:c.1441G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120982.1:p.Val481Met",
        "hgvsWellDefined": "NP_001120982.1:p.Val481Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676902"
    },
    {
      "@id": "http://reg.genome.network/allele/PA191948",
      "coordinates": [
        {
          "allele": "A",
          "end": 1607,
          "referenceAllele": "G",
          "start": 1606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001127511.3:c.1387G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120983.2:p.Val463Met",
        "hgvsWellDefined": "NP_001120983.2:p.Val463Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676903"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827940971",
      "coordinates": [
        {
          "allele": "A",
          "end": 1844,
          "referenceAllele": "G",
          "start": 1843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354895.2:c.1441G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341824.1:p.Val481Met",
        "hgvsWellDefined": "NP_001341824.1:p.Val481Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690347"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916039516",
      "coordinates": [
        {
          "allele": "A",
          "end": 1554,
          "referenceAllele": "G",
          "start": 1553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354896.2:c.1495G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341825.1:p.Val499Met",
        "hgvsWellDefined": "NP_001341825.1:p.Val499Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690348"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827955663",
      "coordinates": [
        {
          "allele": "A",
          "end": 1691,
          "referenceAllele": "G",
          "start": 1690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354897.2:c.1471G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341826.1:p.Val491Met",
        "hgvsWellDefined": "NP_001341826.1:p.Val491Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690349"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827964801",
      "coordinates": [
        {
          "allele": "A",
          "end": 1455,
          "referenceAllele": "G",
          "start": 1454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354898.2:c.1366G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341827.1:p.Val456Met",
        "hgvsWellDefined": "NP_001341827.1:p.Val456Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690350"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827973960",
      "coordinates": [
        {
          "allele": "A",
          "end": 1416,
          "referenceAllele": "G",
          "start": 1415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354899.2:c.1357G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341828.1:p.Val453Met",
        "hgvsWellDefined": "NP_001341828.1:p.Val453Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690351"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827983059",
      "coordinates": [
        {
          "allele": "A",
          "end": 1401,
          "referenceAllele": "G",
          "start": 1400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354900.2:c.1318G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341829.1:p.Val440Met",
        "hgvsWellDefined": "NP_001341829.1:p.Val440Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690352"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827992133",
      "coordinates": [
        {
          "allele": "A",
          "end": 1347,
          "referenceAllele": "G",
          "start": 1346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354901.2:c.1264G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341830.1:p.Val422Met",
        "hgvsWellDefined": "NP_001341830.1:p.Val422Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690353"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828005435",
      "coordinates": [
        {
          "allele": "A",
          "end": 1388,
          "referenceAllele": "G",
          "start": 1387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354902.2:c.1168G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341831.1:p.Val390Met",
        "hgvsWellDefined": "NP_001341831.1:p.Val390Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690354"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828015687",
      "coordinates": [
        {
          "allele": "A",
          "end": 1197,
          "referenceAllele": "G",
          "start": 1196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354903.2:c.1138G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341832.1:p.Val380Met",
        "hgvsWellDefined": "NP_001341832.1:p.Val380Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690355"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828032722",
      "coordinates": [
        {
          "allele": "A",
          "end": 1152,
          "referenceAllele": "G",
          "start": 1151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354904.2:c.1063G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341833.1:p.Val355Met",
        "hgvsWellDefined": "NP_001341833.1:p.Val355Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690356"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828052753",
      "coordinates": [
        {
          "allele": "A",
          "end": 1044,
          "referenceAllele": "G",
          "start": 1043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354905.2:c.961G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341834.1:p.Val321Met",
        "hgvsWellDefined": "NP_001341834.1:p.Val321Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690357"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828015576",
      "coordinates": [
        {
          "allele": "A",
          "end": 1686,
          "referenceAllele": "G",
          "start": 1685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NM_001354906.2:c.592G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341835.1:p.Val198Met",
        "hgvsWellDefined": "NP_001341835.1:p.Val198Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690358"
    }
  ],
  "type": "nucleotide"
}