{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA409805501",
  "communityStandardTitle": [
    "NM_000484.4(APP):c.2173A>T (p.Lys725Ter)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.27264072T>A?assembly=hg19",
        "id": "chr21:g.27264072T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.25891760T>A?assembly=hg38",
        "id": "chr21:g.25891760T>A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "A",
          "end": 25891760,
          "referenceAllele": "T",
          "start": 25891759
        }
      ],
      "hgvs": [
        "NC_000021.9:g.25891760T>A",
        "CM000683.2:g.25891760T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "A",
          "end": 27264072,
          "referenceAllele": "T",
          "start": 27264071
        }
      ],
      "hgvs": [
        "NC_000021.8:g.27264072T>A",
        "CM000683.1:g.27264072T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000045"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "A",
          "end": 26185943,
          "referenceAllele": "T",
          "start": 26185942
        }
      ],
      "hgvs": [
        "NC_000021.7:g.26185943T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000021"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 284061,
          "referenceAllele": "A",
          "start": 284060
        }
      ],
      "hgvs": [
        "NG_007376.1:g.284061A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000553"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 284369,
          "referenceAllele": "A",
          "start": 284368
        }
      ],
      "hgvs": [
        "NG_007376.2:g.284369A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673480"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2140,
          "referenceAllele": "A",
          "start": 2139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000707132.1:n.2140A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913340"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 570,
          "referenceAllele": "A",
          "start": 569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000707133.1:n.570A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913341"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 839,
          "referenceAllele": "A",
          "start": 838
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000707134.1:n.839A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913342"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2323,
          "referenceAllele": "A",
          "start": 2322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000346798.8:c.2173A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000284981.4:p.Lys725Ter",
        "hgvsWellDefined": "ENSP00000284981.4:p.Lys726_Asn770delinsGlnTyrThrSerIleHisHisGlyValValGluValAspAlaAlaValThrProGluGluArgHisLeuSerLysMetGlnGlnAsnGlyTyrGluAsnProThrTyrLysPhePheGluGlnMetGlnAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748321",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000346798.8:c.2173A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000484.4:c.2173A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000284981.4:p.Lys725Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000475.1:p.Lys725Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2207,
          "referenceAllele": "A",
          "start": 2206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000346798.7:c.2173A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000284981.4:p.Lys725Ter",
        "hgvsWellDefined": "ENSP00000284981.4:p.Lys726_Asn770delinsGlnTyrThrSerIleHisHisGlyValValGluValAspAlaAlaValThrProGluGluArgHisLeuSerLysMetGlnGlnAsnGlyTyrGluAsnProThrTyrLysPhePheGluGlnMetGlnAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262297"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2095,
          "referenceAllele": "A",
          "start": 2094
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000348990.9:c.1948A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345463.5:p.Lys650Ter",
        "hgvsWellDefined": "ENSP00000345463.5:p.Lys651_Asn695delinsGlnTyrThrSerIleHisHisGlyValValGluValAspAlaAlaValThrProGluGluArgHisLeuSerLysMetGlnGlnAsnGlyTyrGluAsnProThrTyrLysPhePheGluGlnMetGlnAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262536"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1907,
          "referenceAllele": "A",
          "start": 1906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000354192.7:c.1780A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346129.3:p.Lys594Ter",
        "hgvsWellDefined": "ENSP00000346129.3:p.Lys595_Asn639delinsGlnTyrThrSerIleHisHisGlyValValGluValAspAlaAlaValThrProGluGluArgHisLeuSerLysMetGlnGlnAsnGlyTyrGluAsnProThrTyrLysPhePheGluGlnMetGlnAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263039"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2283,
          "referenceAllele": "A",
          "start": 2282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000357903.7:c.2116A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350578.3:p.Lys706Ter",
        "hgvsWellDefined": "ENSP00000350578.3:p.Lys707_Asn751delinsGlnTyrThrSerIleHisHisGlyValValGluValAspAlaAlaValThrProGluGluArgHisLeuSerLysMetGlnGlnAsnGlyTyrGluAsnProThrTyrLysPhePheGluGlnMetGlnAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264273"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2166,
          "referenceAllele": "A",
          "start": 2165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000358918.7:c.2119A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351796.3:p.Lys707Ter",
        "hgvsWellDefined": "ENSP00000351796.3:p.Lys708_Asn752delinsGlnTyrThrSerIleHisHisGlyValValGluValAspAlaAlaValThrProGluGluArgHisLeuSerLysMetGlnGlnAsnGlyTyrGluAsnProThrTyrLysPhePheGluGlnMetGlnAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264621"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2035,
          "referenceAllele": "A",
          "start": 2034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000359726.7:c.1843A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352760.4:p.Lys615Ter",
        "hgvsWellDefined": "ENSP00000352760.4:p.Lys616_Asn660delinsGlnTyrThrSerIleHisHisGlyValValGluValAspAlaAlaValThrProGluGluArgHisLeuSerLysMetGlnGlnAsnGlyTyrGluAsnProThrTyrLysPhePheGluGlnMetGlnAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264885"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2039,
          "referenceAllele": "A",
          "start": 2038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000439274.6:c.2005A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398879.2:p.Lys669Ter",
        "hgvsWellDefined": "ENSP00000398879.2:p.Lys670_Asn714delinsGlnTyrThrSerIleHisHisGlyValValGluValAspAlaAlaValThrProGluGluArgHisLeuSerLysMetGlnGlnAsnGlyTyrGluAsnProThrTyrLysPhePheGluGlnMetGlnAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295350"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2367,
          "referenceAllele": "A",
          "start": 2366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000440126.7:c.2101A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387483.2:p.Lys701Ter",
        "hgvsWellDefined": "ENSP00000387483.2:p.Lys702_Asn746delinsGlnTyrThrSerIleHisHisGlyValValGluValAspAlaAlaValThrProGluGluArgHisLeuSerLysMetGlnGlnAsnGlyTyrGluAsnProThrTyrLysPhePheGluGlnMetGlnAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295743"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 520,
          "referenceAllele": "A",
          "start": 519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000464867.1:n.520A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308592"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2373,
          "referenceAllele": "A",
          "start": 2372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_000484.3:c.2173A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000475.1:p.Lys725Ter",
        "hgvsWellDefined": "NP_000475.1:p.Lys726_Asn770delinsGlnTyrThrSerIleHisHisGlyValValGluValAspAlaAlaValThrProGluGluArgHisLeuSerLysMetGlnGlnAsnGlyTyrGluAsnProThrTyrLysPhePheGluGlnMetGlnAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006538"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2297,
          "referenceAllele": "A",
          "start": 2296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136016.3:c.2101A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129488.1:p.Lys701Ter",
        "hgvsWellDefined": "NP_001129488.1:p.Lys702_Asn746delinsGlnTyrThrSerIleHisHisGlyValValGluValAspAlaAlaValThrProGluGluArgHisLeuSerLysMetGlnGlnAsnGlyTyrGluAsnProThrTyrLysPhePheGluGlnMetGlnAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012562"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1980,
          "referenceAllele": "A",
          "start": 1979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136129.2:c.1780A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129601.1:p.Lys594Ter",
        "hgvsWellDefined": "NP_001129601.1:p.Lys595_Asn639delinsGlnTyrThrSerIleHisHisGlyValValGluValAspAlaAlaValThrProGluGluArgHisLeuSerLysMetGlnGlnAsnGlyTyrGluAsnProThrTyrLysPhePheGluGlnMetGlnAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012610"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2205,
          "referenceAllele": "A",
          "start": 2204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136130.2:c.2005A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129602.1:p.Lys669Ter",
        "hgvsWellDefined": "NP_001129602.1:p.Lys670_Asn714delinsGlnTyrThrSerIleHisHisGlyValValGluValAspAlaAlaValThrProGluGluArgHisLeuSerLysMetGlnGlnAsnGlyTyrGluAsnProThrTyrLysPhePheGluGlnMetGlnAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012611"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2035,
          "referenceAllele": "A",
          "start": 2034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136131.2:c.1843A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129603.1:p.Lys615Ter",
        "hgvsWellDefined": "NP_001129603.1:p.Lys616_Asn660delinsGlnTyrThrSerIleHisHisGlyValValGluValAspAlaAlaValThrProGluGluArgHisLeuSerLysMetGlnGlnAsnGlyTyrGluAsnProThrTyrLysPhePheGluGlnMetGlnAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012612"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2319,
          "referenceAllele": "A",
          "start": 2318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204301.1:c.2119A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191230.1:p.Lys707Ter",
        "hgvsWellDefined": "NP_001191230.1:p.Lys708_Asn752delinsGlnTyrThrSerIleHisHisGlyValValGluValAspAlaAlaValThrProGluGluArgHisLeuSerLysMetGlnGlnAsnGlyTyrGluAsnProThrTyrLysPhePheGluGlnMetGlnAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017606"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2262,
          "referenceAllele": "A",
          "start": 2261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204302.1:c.2062A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191231.1:p.Lys688Ter",
        "hgvsWellDefined": "NP_001191231.1:p.Lys689_Asn733delinsGlnTyrThrSerIleHisHisGlyValValGluValAspAlaAlaValThrProGluGluArgHisLeuSerLysMetGlnGlnAsnGlyTyrGluAsnProThrTyrLysPhePheGluGlnMetGlnAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017607"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2094,
          "referenceAllele": "A",
          "start": 2093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204303.1:c.1894A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191232.1:p.Lys632Ter",
        "hgvsWellDefined": "NP_001191232.1:p.Lys633_Asn677delinsGlnTyrThrSerIleHisHisGlyValValGluValAspAlaAlaValThrProGluGluArgHisLeuSerLysMetGlnGlnAsnGlyTyrGluAsnProThrTyrLysPhePheGluGlnMetGlnAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017608"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2316,
          "referenceAllele": "A",
          "start": 2315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201413.2:c.2116A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958816.1:p.Lys706Ter",
        "hgvsWellDefined": "NP_958816.1:p.Lys707_Asn751delinsGlnTyrThrSerIleHisHisGlyValValGluValAspAlaAlaValThrProGluGluArgHisLeuSerLysMetGlnGlnAsnGlyTyrGluAsnProThrTyrLysPhePheGluGlnMetGlnAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2148,
          "referenceAllele": "A",
          "start": 2147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201414.2:c.1948A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958817.1:p.Lys650Ter",
        "hgvsWellDefined": "NP_958817.1:p.Lys651_Asn695delinsGlnTyrThrSerIleHisHisGlyValValGluValAspAlaAlaValThrProGluGluArgHisLeuSerLysMetGlnGlnAsnGlyTyrGluAsnProThrTyrLysPhePheGluGlnMetGlnAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045010"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2323,
          "referenceAllele": "A",
          "start": 2322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_000484.4:c.2173A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000475.1:p.Lys725Ter",
        "hgvsWellDefined": "NP_000475.1:p.Lys726_Asn770delinsGlnTyrThrSerIleHisHisGlyValValGluValAspAlaAlaValThrProGluGluArgHisLeuSerLysMetGlnGlnAsnGlyTyrGluAsnProThrTyrLysPhePheGluGlnMetGlnAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662458",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000346798.8:c.2173A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000484.4:c.2173A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000284981.4:p.Lys725Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000475.1:p.Lys725Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1930,
          "referenceAllele": "A",
          "start": 1929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136129.3:c.1780A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129601.1:p.Lys594Ter",
        "hgvsWellDefined": "NP_001129601.1:p.Lys595_Asn639delinsGlnTyrThrSerIleHisHisGlyValValGluValAspAlaAlaValThrProGluGluArgHisLeuSerLysMetGlnGlnAsnGlyTyrGluAsnProThrTyrLysPhePheGluGlnMetGlnAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677401"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2155,
          "referenceAllele": "A",
          "start": 2154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136130.3:c.2005A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129602.1:p.Lys669Ter",
        "hgvsWellDefined": "NP_001129602.1:p.Lys670_Asn714delinsGlnTyrThrSerIleHisHisGlyValValGluValAspAlaAlaValThrProGluGluArgHisLeuSerLysMetGlnGlnAsnGlyTyrGluAsnProThrTyrLysPhePheGluGlnMetGlnAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677402"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2269,
          "referenceAllele": "A",
          "start": 2268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204301.2:c.2119A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191230.1:p.Lys707Ter",
        "hgvsWellDefined": "NP_001191230.1:p.Lys708_Asn752delinsGlnTyrThrSerIleHisHisGlyValValGluValAspAlaAlaValThrProGluGluArgHisLeuSerLysMetGlnGlnAsnGlyTyrGluAsnProThrTyrLysPhePheGluGlnMetGlnAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679828"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2212,
          "referenceAllele": "A",
          "start": 2211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204302.2:c.2062A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191231.1:p.Lys688Ter",
        "hgvsWellDefined": "NP_001191231.1:p.Lys689_Asn733delinsGlnTyrThrSerIleHisHisGlyValValGluValAspAlaAlaValThrProGluGluArgHisLeuSerLysMetGlnGlnAsnGlyTyrGluAsnProThrTyrLysPhePheGluGlnMetGlnAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679829"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2044,
          "referenceAllele": "A",
          "start": 2043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204303.2:c.1894A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191232.1:p.Lys632Ter",
        "hgvsWellDefined": "NP_001191232.1:p.Lys633_Asn677delinsGlnTyrThrSerIleHisHisGlyValValGluValAspAlaAlaValThrProGluGluArgHisLeuSerLysMetGlnGlnAsnGlyTyrGluAsnProThrTyrLysPhePheGluGlnMetGlnAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679830"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2266,
          "referenceAllele": "A",
          "start": 2265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201413.3:c.2116A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958816.1:p.Lys706Ter",
        "hgvsWellDefined": "NP_958816.1:p.Lys707_Asn751delinsGlnTyrThrSerIleHisHisGlyValValGluValAspAlaAlaValThrProGluGluArgHisLeuSerLysMetGlnGlnAsnGlyTyrGluAsnProThrTyrLysPhePheGluGlnMetGlnAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701541"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2098,
          "referenceAllele": "A",
          "start": 2097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201414.3:c.1948A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958817.1:p.Lys650Ter",
        "hgvsWellDefined": "NP_958817.1:p.Lys651_Asn695delinsGlnTyrThrSerIleHisHisGlyValValGluValAspAlaAlaValThrProGluGluArgHisLeuSerLysMetGlnGlnAsnGlyTyrGluAsnProThrTyrLysPhePheGluGlnMetGlnAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701542"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2035,
          "referenceAllele": "A",
          "start": 2034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136131.3:c.1843A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129603.1:p.Lys615Ter",
        "hgvsWellDefined": "NP_001129603.1:p.Lys616_Asn660delinsGlnTyrThrSerIleHisHisGlyValValGluValAspAlaAlaValThrProGluGluArgHisLeuSerLysMetGlnGlnAsnGlyTyrGluAsnProThrTyrLysPhePheGluGlnMetGlnAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712494"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2155,
          "referenceAllele": "A",
          "start": 2154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001385253.1:c.2005A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372182.1:p.Lys669Ter",
        "hgvsWellDefined": "NP_001372182.1:p.Lys670_Asn714delinsGlnTyrThrSerIleHisHisGlyValValGluValAspAlaAlaValThrProGluGluArgHisLeuSerLysMetGlnGlnAsnGlyTyrGluAsnProThrTyrLysPhePheGluGlnMetGlnAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723592"
    }
  ],
  "type": "nucleotide"
}