{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA127804",
  "communityStandardTitle": [
    "NM_000484.4(APP):c.2080G>A (p.Asp694Asn)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=33140[alleleid]",
        "alleleId": 33140,
        "preferredName": "NM_000484.4(APP):c.2080G>A (p.Asp694Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/18101",
        "RCV": [
          "RCV000019729",
          "RCV000084564",
          "RCV000687111"
        ],
        "variationId": 18101
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.27264165C>T?assembly=hg19",
        "id": "chr21:g.27264165C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.25891853C>T?assembly=hg38",
        "id": "chr21:g.25891853C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/63749810",
        "rs": 63749810
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-25891853-C-T?dataset=gnomad_r4",
        "id": "21-25891853-C-T",
        "variant": "21:25891853 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "T",
          "end": 25891853,
          "referenceAllele": "C",
          "start": 25891852
        }
      ],
      "hgvs": [
        "NC_000021.9:g.25891853C>T",
        "CM000683.2:g.25891853C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "T",
          "end": 27264165,
          "referenceAllele": "C",
          "start": 27264164
        }
      ],
      "hgvs": [
        "NC_000021.8:g.27264165C>T",
        "CM000683.1:g.27264165C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000045"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "T",
          "end": 26186036,
          "referenceAllele": "C",
          "start": 26186035
        }
      ],
      "hgvs": [
        "NC_000021.7:g.26186036C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000021"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 283968,
          "referenceAllele": "G",
          "start": 283967
        }
      ],
      "hgvs": [
        "NG_007376.1:g.283968G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000553"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 284276,
          "referenceAllele": "G",
          "start": 284275
        }
      ],
      "hgvs": [
        "NG_007376.2:g.284276G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673480"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2047,
          "referenceAllele": "G",
          "start": 2046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000707132.1:n.2047G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913340"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 477,
          "referenceAllele": "G",
          "start": 476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000707133.1:n.477G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913341"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 746,
          "referenceAllele": "G",
          "start": 745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000707134.1:n.746G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913342"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2230,
          "referenceAllele": "G",
          "start": 2229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000346798.8:c.2080G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000284981.4:p.Asp694Asn",
        "hgvsWellDefined": "ENSP00000284981.4:p.Asp694Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748321",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000346798.8:c.2080G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000484.4:c.2080G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000284981.4:p.Asp694Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000475.1:p.Asp694Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2114,
          "referenceAllele": "G",
          "start": 2113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000346798.7:c.2080G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000284981.4:p.Asp694Asn",
        "hgvsWellDefined": "ENSP00000284981.4:p.Asp694Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262297"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2002,
          "referenceAllele": "G",
          "start": 2001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000348990.9:c.1855G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345463.5:p.Asp619Asn",
        "hgvsWellDefined": "ENSP00000345463.5:p.Asp619Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262536"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1814,
          "referenceAllele": "G",
          "start": 1813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000354192.7:c.1687G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346129.3:p.Asp563Asn",
        "hgvsWellDefined": "ENSP00000346129.3:p.Asp563Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263039"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2190,
          "referenceAllele": "G",
          "start": 2189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000357903.7:c.2023G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350578.3:p.Asp675Asn",
        "hgvsWellDefined": "ENSP00000350578.3:p.Asp675Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264273"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2073,
          "referenceAllele": "G",
          "start": 2072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000358918.7:c.2026G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351796.3:p.Asp676Asn",
        "hgvsWellDefined": "ENSP00000351796.3:p.Asp676Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264621"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1942,
          "referenceAllele": "G",
          "start": 1941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000359726.7:c.1750G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352760.4:p.Asp584Asn",
        "hgvsWellDefined": "ENSP00000352760.4:p.Asp584Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264885"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1946,
          "referenceAllele": "G",
          "start": 1945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000439274.6:c.1912G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398879.2:p.Asp638Asn",
        "hgvsWellDefined": "ENSP00000398879.2:p.Asp638Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295350"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2274,
          "referenceAllele": "G",
          "start": 2273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000440126.7:c.2008G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387483.2:p.Asp670Asn",
        "hgvsWellDefined": "ENSP00000387483.2:p.Asp670Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295743"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 427,
          "referenceAllele": "G",
          "start": 426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000464867.1:n.427G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308592"
    },
    {
      "@id": "http://reg.genome.network/allele/PA113540",
      "coordinates": [
        {
          "allele": "A",
          "end": 2280,
          "referenceAllele": "G",
          "start": 2279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_000484.3:c.2080G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000475.1:p.Asp694Asn",
        "hgvsWellDefined": "NP_000475.1:p.Asp694Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006538"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127811",
      "coordinates": [
        {
          "allele": "A",
          "end": 2204,
          "referenceAllele": "G",
          "start": 2203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136016.3:c.2008G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129488.1:p.Asp670Asn",
        "hgvsWellDefined": "NP_001129488.1:p.Asp670Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012562"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127805",
      "coordinates": [
        {
          "allele": "A",
          "end": 1887,
          "referenceAllele": "G",
          "start": 1886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136129.2:c.1687G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129601.1:p.Asp563Asn",
        "hgvsWellDefined": "NP_001129601.1:p.Asp563Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012610"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127809",
      "coordinates": [
        {
          "allele": "A",
          "end": 2112,
          "referenceAllele": "G",
          "start": 2111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136130.2:c.1912G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129602.1:p.Asp638Asn",
        "hgvsWellDefined": "NP_001129602.1:p.Asp638Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012611"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127806",
      "coordinates": [
        {
          "allele": "A",
          "end": 1942,
          "referenceAllele": "G",
          "start": 1941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136131.2:c.1750G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129603.1:p.Asp584Asn",
        "hgvsWellDefined": "NP_001129603.1:p.Asp584Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012612"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127813",
      "coordinates": [
        {
          "allele": "A",
          "end": 2226,
          "referenceAllele": "G",
          "start": 2225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204301.1:c.2026G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191230.1:p.Asp676Asn",
        "hgvsWellDefined": "NP_001191230.1:p.Asp676Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017606"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127810",
      "coordinates": [
        {
          "allele": "A",
          "end": 2169,
          "referenceAllele": "G",
          "start": 2168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204302.1:c.1969G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191231.1:p.Asp657Asn",
        "hgvsWellDefined": "NP_001191231.1:p.Asp657Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017607"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127807",
      "coordinates": [
        {
          "allele": "A",
          "end": 2001,
          "referenceAllele": "G",
          "start": 2000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204303.1:c.1801G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191232.1:p.Asp601Asn",
        "hgvsWellDefined": "NP_001191232.1:p.Asp601Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017608"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127812",
      "coordinates": [
        {
          "allele": "A",
          "end": 2223,
          "referenceAllele": "G",
          "start": 2222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201413.2:c.2023G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958816.1:p.Asp675Asn",
        "hgvsWellDefined": "NP_958816.1:p.Asp675Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045009"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127808",
      "coordinates": [
        {
          "allele": "A",
          "end": 2055,
          "referenceAllele": "G",
          "start": 2054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201414.2:c.1855G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958817.1:p.Asp619Asn",
        "hgvsWellDefined": "NP_958817.1:p.Asp619Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045010"
    },
    {
      "@id": "http://reg.genome.network/allele/PA113540",
      "coordinates": [
        {
          "allele": "A",
          "end": 2230,
          "referenceAllele": "G",
          "start": 2229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_000484.4:c.2080G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000475.1:p.Asp694Asn",
        "hgvsWellDefined": "NP_000475.1:p.Asp694Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662458",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000346798.8:c.2080G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000484.4:c.2080G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000284981.4:p.Asp694Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000475.1:p.Asp694Asn"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA127805",
      "coordinates": [
        {
          "allele": "A",
          "end": 1837,
          "referenceAllele": "G",
          "start": 1836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136129.3:c.1687G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129601.1:p.Asp563Asn",
        "hgvsWellDefined": "NP_001129601.1:p.Asp563Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677401"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127809",
      "coordinates": [
        {
          "allele": "A",
          "end": 2062,
          "referenceAllele": "G",
          "start": 2061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136130.3:c.1912G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129602.1:p.Asp638Asn",
        "hgvsWellDefined": "NP_001129602.1:p.Asp638Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677402"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127813",
      "coordinates": [
        {
          "allele": "A",
          "end": 2176,
          "referenceAllele": "G",
          "start": 2175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204301.2:c.2026G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191230.1:p.Asp676Asn",
        "hgvsWellDefined": "NP_001191230.1:p.Asp676Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679828"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127810",
      "coordinates": [
        {
          "allele": "A",
          "end": 2119,
          "referenceAllele": "G",
          "start": 2118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204302.2:c.1969G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191231.1:p.Asp657Asn",
        "hgvsWellDefined": "NP_001191231.1:p.Asp657Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679829"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127807",
      "coordinates": [
        {
          "allele": "A",
          "end": 1951,
          "referenceAllele": "G",
          "start": 1950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204303.2:c.1801G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191232.1:p.Asp601Asn",
        "hgvsWellDefined": "NP_001191232.1:p.Asp601Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679830"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127812",
      "coordinates": [
        {
          "allele": "A",
          "end": 2173,
          "referenceAllele": "G",
          "start": 2172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201413.3:c.2023G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958816.1:p.Asp675Asn",
        "hgvsWellDefined": "NP_958816.1:p.Asp675Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701541"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127808",
      "coordinates": [
        {
          "allele": "A",
          "end": 2005,
          "referenceAllele": "G",
          "start": 2004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201414.3:c.1855G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958817.1:p.Asp619Asn",
        "hgvsWellDefined": "NP_958817.1:p.Asp619Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701542"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127806",
      "coordinates": [
        {
          "allele": "A",
          "end": 1942,
          "referenceAllele": "G",
          "start": 1941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136131.3:c.1750G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129603.1:p.Asp584Asn",
        "hgvsWellDefined": "NP_001129603.1:p.Asp584Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712494"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828960825",
      "coordinates": [
        {
          "allele": "A",
          "end": 2062,
          "referenceAllele": "G",
          "start": 2061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001385253.1:c.1912G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372182.1:p.Asp638Asn",
        "hgvsWellDefined": "NP_001372182.1:p.Asp638Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723592"
    }
  ],
  "type": "nucleotide"
}