{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2383554914",
  "communityStandardTitle": [
    "NM_000484.4(APP):c.2032G= (p.Asp678=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/63750064",
        "rs": 63750064
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "C",
          "end": 25897605,
          "referenceAllele": "C",
          "start": 25897604
        }
      ],
      "hgvs": [
        "NC_000021.9:g.25897605C=",
        "CM000683.2:g.25897605C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "C",
          "end": 27269917,
          "referenceAllele": "C",
          "start": 27269916
        }
      ],
      "hgvs": [
        "NC_000021.8:g.27269917C=",
        "CM000683.1:g.27269917C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000045"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "C",
          "end": 26191788,
          "referenceAllele": "C",
          "start": 26191787
        }
      ],
      "hgvs": [
        "NC_000021.7:g.26191788C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000021"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 278216,
          "referenceAllele": "G",
          "start": 278215
        }
      ],
      "hgvs": [
        "NG_007376.1:g.278216G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000553"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 278524,
          "referenceAllele": "G",
          "start": 278523
        }
      ],
      "hgvs": [
        "NG_007376.2:g.278524G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673480"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1999,
          "referenceAllele": "G",
          "start": 1998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000707132.1:n.1999G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913340"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 429,
          "referenceAllele": "G",
          "start": 428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000707133.1:n.429G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913341"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 698,
          "referenceAllele": "G",
          "start": 697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000707134.1:n.698G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913342"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2182,
          "referenceAllele": "G",
          "start": 2181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000346798.8:c.2032G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000284981.4:p.Asp678="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748321",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000346798.8:c.2032G="
          },
          "RefSeq": {
            "hgvs": "NM_000484.4:c.2032G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000284981.4:p.Asp678="
          },
          "RefSeq": {
            "hgvs": "NP_000475.1:p.Asp678="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2066,
          "referenceAllele": "G",
          "start": 2065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000346798.7:c.2032G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000284981.4:p.Asp678="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262297"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1954,
          "referenceAllele": "G",
          "start": 1953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000348990.9:c.1807G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345463.5:p.Asp603="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262536"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1766,
          "referenceAllele": "G",
          "start": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000354192.7:c.1639G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346129.3:p.Asp547="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263039"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2142,
          "referenceAllele": "G",
          "start": 2141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000357903.7:c.1975G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350578.3:p.Asp659="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264273"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2025,
          "referenceAllele": "G",
          "start": 2024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000358918.7:c.1978G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351796.3:p.Asp660="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264621"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1894,
          "referenceAllele": "G",
          "start": 1893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000359726.7:c.1702G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352760.4:p.Asp568="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264885"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1898,
          "referenceAllele": "G",
          "start": 1897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000439274.6:c.1864G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398879.2:p.Asp622="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295350"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2226,
          "referenceAllele": "G",
          "start": 2225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000440126.7:c.1960G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387483.2:p.Asp654="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295743"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 379,
          "referenceAllele": "G",
          "start": 378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000464867.1:n.379G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308592"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2832621207",
      "coordinates": [
        {
          "allele": "G",
          "end": 2232,
          "referenceAllele": "G",
          "start": 2231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_000484.3:c.2032G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000475.1:p.Asp678="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006538"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2156,
          "referenceAllele": "G",
          "start": 2155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136016.3:c.1960G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001129488.1:p.Asp654="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012562"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1839,
          "referenceAllele": "G",
          "start": 1838
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136129.2:c.1639G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001129601.1:p.Asp547="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012610"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2064,
          "referenceAllele": "G",
          "start": 2063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136130.2:c.1864G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001129602.1:p.Asp622="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012611"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1894,
          "referenceAllele": "G",
          "start": 1893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136131.2:c.1702G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001129603.1:p.Asp568="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012612"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2178,
          "referenceAllele": "G",
          "start": 2177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204301.1:c.1978G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001191230.1:p.Asp660="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017606"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2121,
          "referenceAllele": "G",
          "start": 2120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204302.1:c.1921G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001191231.1:p.Asp641="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017607"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1953,
          "referenceAllele": "G",
          "start": 1952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204303.1:c.1753G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001191232.1:p.Asp585="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017608"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2175,
          "referenceAllele": "G",
          "start": 2174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201413.2:c.1975G="
      ],
      "proteinEffect": {
        "hgvs": "NP_958816.1:p.Asp659="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2007,
          "referenceAllele": "G",
          "start": 2006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201414.2:c.1807G="
      ],
      "proteinEffect": {
        "hgvs": "NP_958817.1:p.Asp603="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045010"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2832621207",
      "coordinates": [
        {
          "allele": "G",
          "end": 2182,
          "referenceAllele": "G",
          "start": 2181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_000484.4:c.2032G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000475.1:p.Asp678="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662458",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000346798.8:c.2032G="
          },
          "RefSeq": {
            "hgvs": "NM_000484.4:c.2032G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000284981.4:p.Asp678="
          },
          "RefSeq": {
            "hgvs": "NP_000475.1:p.Asp678="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1789,
          "referenceAllele": "G",
          "start": 1788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136129.3:c.1639G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001129601.1:p.Asp547="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677401"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2014,
          "referenceAllele": "G",
          "start": 2013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136130.3:c.1864G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001129602.1:p.Asp622="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677402"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2128,
          "referenceAllele": "G",
          "start": 2127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204301.2:c.1978G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001191230.1:p.Asp660="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679828"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2071,
          "referenceAllele": "G",
          "start": 2070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204302.2:c.1921G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001191231.1:p.Asp641="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679829"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1903,
          "referenceAllele": "G",
          "start": 1902
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204303.2:c.1753G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001191232.1:p.Asp585="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679830"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2125,
          "referenceAllele": "G",
          "start": 2124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201413.3:c.1975G="
      ],
      "proteinEffect": {
        "hgvs": "NP_958816.1:p.Asp659="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701541"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1957,
          "referenceAllele": "G",
          "start": 1956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201414.3:c.1807G="
      ],
      "proteinEffect": {
        "hgvs": "NP_958817.1:p.Asp603="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701542"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1894,
          "referenceAllele": "G",
          "start": 1893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136131.3:c.1702G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001129603.1:p.Asp568="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712494"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2014,
          "referenceAllele": "G",
          "start": 2013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001385253.1:c.1864G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001372182.1:p.Asp622="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723592"
    }
  ],
  "type": "nucleotide"
}