{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA127802",
  "communityStandardTitle": [
    "NM_000484.4(APP):c.2077G>A (p.Glu693Lys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=33138[alleleid]",
        "alleleId": 33138,
        "preferredName": "NM_000484.4(APP):c.2077G>A (p.Glu693Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/18099",
        "RCV": [
          "RCV000019727",
          "RCV000084562"
        ],
        "variationId": 18099
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.27264168C>T?assembly=hg19",
        "id": "chr21:g.27264168C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.25891856C>T?assembly=hg38",
        "id": "chr21:g.25891856C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/63750579",
        "rs": 63750579
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "T",
          "end": 25891856,
          "referenceAllele": "C",
          "start": 25891855
        }
      ],
      "hgvs": [
        "NC_000021.9:g.25891856C>T",
        "CM000683.2:g.25891856C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "T",
          "end": 27264168,
          "referenceAllele": "C",
          "start": 27264167
        }
      ],
      "hgvs": [
        "NC_000021.8:g.27264168C>T",
        "CM000683.1:g.27264168C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000045"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "T",
          "end": 26186039,
          "referenceAllele": "C",
          "start": 26186038
        }
      ],
      "hgvs": [
        "NC_000021.7:g.26186039C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000021"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 283965,
          "referenceAllele": "G",
          "start": 283964
        }
      ],
      "hgvs": [
        "NG_007376.1:g.283965G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000553"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 284273,
          "referenceAllele": "G",
          "start": 284272
        }
      ],
      "hgvs": [
        "NG_007376.2:g.284273G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673480"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2044,
          "referenceAllele": "G",
          "start": 2043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000707132.1:n.2044G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913340"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 474,
          "referenceAllele": "G",
          "start": 473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000707133.1:n.474G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913341"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 743,
          "referenceAllele": "G",
          "start": 742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000707134.1:n.743G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913342"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2227,
          "referenceAllele": "G",
          "start": 2226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000346798.8:c.2077G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000284981.4:p.Glu693Lys",
        "hgvsWellDefined": "ENSP00000284981.4:p.Glu693Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748321",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000346798.8:c.2077G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000484.4:c.2077G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000284981.4:p.Glu693Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000475.1:p.Glu693Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2111,
          "referenceAllele": "G",
          "start": 2110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000346798.7:c.2077G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000284981.4:p.Glu693Lys",
        "hgvsWellDefined": "ENSP00000284981.4:p.Glu693Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262297"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1999,
          "referenceAllele": "G",
          "start": 1998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000348990.9:c.1852G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345463.5:p.Glu618Lys",
        "hgvsWellDefined": "ENSP00000345463.5:p.Glu618Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262536"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1811,
          "referenceAllele": "G",
          "start": 1810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000354192.7:c.1684G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346129.3:p.Glu562Lys",
        "hgvsWellDefined": "ENSP00000346129.3:p.Glu562Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263039"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2187,
          "referenceAllele": "G",
          "start": 2186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000357903.7:c.2020G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350578.3:p.Glu674Lys",
        "hgvsWellDefined": "ENSP00000350578.3:p.Glu674Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264273"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2070,
          "referenceAllele": "G",
          "start": 2069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000358918.7:c.2023G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351796.3:p.Glu675Lys",
        "hgvsWellDefined": "ENSP00000351796.3:p.Glu675Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264621"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1939,
          "referenceAllele": "G",
          "start": 1938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000359726.7:c.1747G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352760.4:p.Glu583Lys",
        "hgvsWellDefined": "ENSP00000352760.4:p.Glu583Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264885"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1943,
          "referenceAllele": "G",
          "start": 1942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000439274.6:c.1909G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398879.2:p.Glu637Lys",
        "hgvsWellDefined": "ENSP00000398879.2:p.Glu637Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295350"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2271,
          "referenceAllele": "G",
          "start": 2270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000440126.7:c.2005G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387483.2:p.Glu669Lys",
        "hgvsWellDefined": "ENSP00000387483.2:p.Glu669Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295743"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 424,
          "referenceAllele": "G",
          "start": 423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000464867.1:n.424G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308592"
    },
    {
      "@id": "http://reg.genome.network/allele/PA113559",
      "coordinates": [
        {
          "allele": "A",
          "end": 2277,
          "referenceAllele": "G",
          "start": 2276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_000484.3:c.2077G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000475.1:p.Glu693Lys",
        "hgvsWellDefined": "NP_000475.1:p.Glu693Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006538"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825808513",
      "coordinates": [
        {
          "allele": "A",
          "end": 2201,
          "referenceAllele": "G",
          "start": 2200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136016.3:c.2005G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129488.1:p.Glu669Lys",
        "hgvsWellDefined": "NP_001129488.1:p.Glu669Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012562"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825817950",
      "coordinates": [
        {
          "allele": "A",
          "end": 1884,
          "referenceAllele": "G",
          "start": 1883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136129.2:c.1684G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129601.1:p.Glu562Lys",
        "hgvsWellDefined": "NP_001129601.1:p.Glu562Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012610"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825818447",
      "coordinates": [
        {
          "allele": "A",
          "end": 2109,
          "referenceAllele": "G",
          "start": 2108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136130.2:c.1909G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129602.1:p.Glu637Lys",
        "hgvsWellDefined": "NP_001129602.1:p.Glu637Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012611"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825818884",
      "coordinates": [
        {
          "allele": "A",
          "end": 1939,
          "referenceAllele": "G",
          "start": 1938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136131.2:c.1747G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129603.1:p.Glu583Lys",
        "hgvsWellDefined": "NP_001129603.1:p.Glu583Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012612"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826270363",
      "coordinates": [
        {
          "allele": "A",
          "end": 2223,
          "referenceAllele": "G",
          "start": 2222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204301.1:c.2023G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191230.1:p.Glu675Lys",
        "hgvsWellDefined": "NP_001191230.1:p.Glu675Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017606"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826270636",
      "coordinates": [
        {
          "allele": "A",
          "end": 2166,
          "referenceAllele": "G",
          "start": 2165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204302.1:c.1966G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191231.1:p.Glu656Lys",
        "hgvsWellDefined": "NP_001191231.1:p.Glu656Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017607"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826270894",
      "coordinates": [
        {
          "allele": "A",
          "end": 1998,
          "referenceAllele": "G",
          "start": 1997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204303.1:c.1798G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191232.1:p.Glu600Lys",
        "hgvsWellDefined": "NP_001191232.1:p.Glu600Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017608"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830508773",
      "coordinates": [
        {
          "allele": "A",
          "end": 2220,
          "referenceAllele": "G",
          "start": 2219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201413.2:c.2020G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958816.1:p.Glu674Lys",
        "hgvsWellDefined": "NP_958816.1:p.Glu674Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045009"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830508985",
      "coordinates": [
        {
          "allele": "A",
          "end": 2052,
          "referenceAllele": "G",
          "start": 2051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201414.2:c.1852G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958817.1:p.Glu618Lys",
        "hgvsWellDefined": "NP_958817.1:p.Glu618Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045010"
    },
    {
      "@id": "http://reg.genome.network/allele/PA113559",
      "coordinates": [
        {
          "allele": "A",
          "end": 2227,
          "referenceAllele": "G",
          "start": 2226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_000484.4:c.2077G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000475.1:p.Glu693Lys",
        "hgvsWellDefined": "NP_000475.1:p.Glu693Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662458",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000346798.8:c.2077G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000484.4:c.2077G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000284981.4:p.Glu693Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000475.1:p.Glu693Lys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825817950",
      "coordinates": [
        {
          "allele": "A",
          "end": 1834,
          "referenceAllele": "G",
          "start": 1833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136129.3:c.1684G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129601.1:p.Glu562Lys",
        "hgvsWellDefined": "NP_001129601.1:p.Glu562Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677401"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825818447",
      "coordinates": [
        {
          "allele": "A",
          "end": 2059,
          "referenceAllele": "G",
          "start": 2058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136130.3:c.1909G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129602.1:p.Glu637Lys",
        "hgvsWellDefined": "NP_001129602.1:p.Glu637Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677402"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826270363",
      "coordinates": [
        {
          "allele": "A",
          "end": 2173,
          "referenceAllele": "G",
          "start": 2172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204301.2:c.2023G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191230.1:p.Glu675Lys",
        "hgvsWellDefined": "NP_001191230.1:p.Glu675Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679828"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826270636",
      "coordinates": [
        {
          "allele": "A",
          "end": 2116,
          "referenceAllele": "G",
          "start": 2115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204302.2:c.1966G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191231.1:p.Glu656Lys",
        "hgvsWellDefined": "NP_001191231.1:p.Glu656Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679829"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826270894",
      "coordinates": [
        {
          "allele": "A",
          "end": 1948,
          "referenceAllele": "G",
          "start": 1947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204303.2:c.1798G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191232.1:p.Glu600Lys",
        "hgvsWellDefined": "NP_001191232.1:p.Glu600Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679830"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830508773",
      "coordinates": [
        {
          "allele": "A",
          "end": 2170,
          "referenceAllele": "G",
          "start": 2169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201413.3:c.2020G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958816.1:p.Glu674Lys",
        "hgvsWellDefined": "NP_958816.1:p.Glu674Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701541"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830508985",
      "coordinates": [
        {
          "allele": "A",
          "end": 2002,
          "referenceAllele": "G",
          "start": 2001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201414.3:c.1852G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958817.1:p.Glu618Lys",
        "hgvsWellDefined": "NP_958817.1:p.Glu618Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701542"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825818884",
      "coordinates": [
        {
          "allele": "A",
          "end": 1939,
          "referenceAllele": "G",
          "start": 1938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136131.3:c.1747G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129603.1:p.Glu583Lys",
        "hgvsWellDefined": "NP_001129603.1:p.Glu583Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712494"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828960819",
      "coordinates": [
        {
          "allele": "A",
          "end": 2059,
          "referenceAllele": "G",
          "start": 2058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001385253.1:c.1909G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372182.1:p.Glu637Lys",
        "hgvsWellDefined": "NP_001372182.1:p.Glu637Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723592"
    }
  ],
  "type": "nucleotide"
}