{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA127816",
  "communityStandardTitle": [
    "NM_000484.4(APP):c.2149G>C (p.Val717Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=33144[alleleid]",
        "alleleId": 33144,
        "preferredName": "NM_000484.4(APP):c.2149G>C (p.Val717Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/18105",
        "RCV": [
          "RCV000518713",
          "RCV000019733"
        ],
        "variationId": 18105
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.27264096C>G?assembly=hg19",
        "id": "chr21:g.27264096C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.25891784C>G?assembly=hg38",
        "id": "chr21:g.25891784C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/63750264",
        "rs": 63750264
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "G",
          "end": 25891784,
          "referenceAllele": "C",
          "start": 25891783
        }
      ],
      "hgvs": [
        "NC_000021.9:g.25891784C>G",
        "CM000683.2:g.25891784C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "G",
          "end": 27264096,
          "referenceAllele": "C",
          "start": 27264095
        }
      ],
      "hgvs": [
        "NC_000021.8:g.27264096C>G",
        "CM000683.1:g.27264096C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000045"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "G",
          "end": 26185967,
          "referenceAllele": "C",
          "start": 26185966
        }
      ],
      "hgvs": [
        "NC_000021.7:g.26185967C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000021"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 284037,
          "referenceAllele": "G",
          "start": 284036
        }
      ],
      "hgvs": [
        "NG_007376.1:g.284037G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000553"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 284345,
          "referenceAllele": "G",
          "start": 284344
        }
      ],
      "hgvs": [
        "NG_007376.2:g.284345G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673480"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2116,
          "referenceAllele": "G",
          "start": 2115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000707132.1:n.2116G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913340"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 546,
          "referenceAllele": "G",
          "start": 545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000707133.1:n.546G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913341"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 815,
          "referenceAllele": "G",
          "start": 814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000707134.1:n.815G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913342"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2299,
          "referenceAllele": "G",
          "start": 2298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000346798.8:c.2149G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000284981.4:p.Val717Leu",
        "hgvsWellDefined": "ENSP00000284981.4:p.Val717Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748321",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000346798.8:c.2149G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000484.4:c.2149G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000284981.4:p.Val717Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000475.1:p.Val717Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2183,
          "referenceAllele": "G",
          "start": 2182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000346798.7:c.2149G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000284981.4:p.Val717Leu",
        "hgvsWellDefined": "ENSP00000284981.4:p.Val717Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262297"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2071,
          "referenceAllele": "G",
          "start": 2070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000348990.9:c.1924G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345463.5:p.Val642Leu",
        "hgvsWellDefined": "ENSP00000345463.5:p.Val642Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262536"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1883,
          "referenceAllele": "G",
          "start": 1882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000354192.7:c.1756G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346129.3:p.Val586Leu",
        "hgvsWellDefined": "ENSP00000346129.3:p.Val586Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263039"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2259,
          "referenceAllele": "G",
          "start": 2258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000357903.7:c.2092G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350578.3:p.Val698Leu",
        "hgvsWellDefined": "ENSP00000350578.3:p.Val698Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264273"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2142,
          "referenceAllele": "G",
          "start": 2141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000358918.7:c.2095G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351796.3:p.Val699Leu",
        "hgvsWellDefined": "ENSP00000351796.3:p.Val699Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264621"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2011,
          "referenceAllele": "G",
          "start": 2010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000359726.7:c.1819G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352760.4:p.Val607Leu",
        "hgvsWellDefined": "ENSP00000352760.4:p.Val607Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264885"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2015,
          "referenceAllele": "G",
          "start": 2014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000439274.6:c.1981G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398879.2:p.Val661Leu",
        "hgvsWellDefined": "ENSP00000398879.2:p.Val661Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295350"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2343,
          "referenceAllele": "G",
          "start": 2342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000440126.7:c.2077G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387483.2:p.Val693Leu",
        "hgvsWellDefined": "ENSP00000387483.2:p.Val693Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295743"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 496,
          "referenceAllele": "G",
          "start": 495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000464867.1:n.496G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308592"
    },
    {
      "@id": "http://reg.genome.network/allele/PA113635",
      "coordinates": [
        {
          "allele": "C",
          "end": 2349,
          "referenceAllele": "G",
          "start": 2348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_000484.3:c.2149G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000475.1:p.Val717Leu",
        "hgvsWellDefined": "NP_000475.1:p.Val717Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006538"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825808593",
      "coordinates": [
        {
          "allele": "C",
          "end": 2273,
          "referenceAllele": "G",
          "start": 2272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136016.3:c.2077G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129488.1:p.Val693Leu",
        "hgvsWellDefined": "NP_001129488.1:p.Val693Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012562"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825817998",
      "coordinates": [
        {
          "allele": "C",
          "end": 1956,
          "referenceAllele": "G",
          "start": 1955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136129.2:c.1756G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129601.1:p.Val586Leu",
        "hgvsWellDefined": "NP_001129601.1:p.Val586Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012610"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825818498",
      "coordinates": [
        {
          "allele": "C",
          "end": 2181,
          "referenceAllele": "G",
          "start": 2180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136130.2:c.1981G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129602.1:p.Val661Leu",
        "hgvsWellDefined": "NP_001129602.1:p.Val661Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012611"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825818936",
      "coordinates": [
        {
          "allele": "C",
          "end": 2011,
          "referenceAllele": "G",
          "start": 2010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136131.2:c.1819G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129603.1:p.Val607Leu",
        "hgvsWellDefined": "NP_001129603.1:p.Val607Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012612"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826270386",
      "coordinates": [
        {
          "allele": "C",
          "end": 2295,
          "referenceAllele": "G",
          "start": 2294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204301.1:c.2095G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191230.1:p.Val699Leu",
        "hgvsWellDefined": "NP_001191230.1:p.Val699Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017606"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826270662",
      "coordinates": [
        {
          "allele": "C",
          "end": 2238,
          "referenceAllele": "G",
          "start": 2237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204302.1:c.2038G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191231.1:p.Val680Leu",
        "hgvsWellDefined": "NP_001191231.1:p.Val680Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017607"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826270920",
      "coordinates": [
        {
          "allele": "C",
          "end": 2070,
          "referenceAllele": "G",
          "start": 2069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204303.1:c.1870G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191232.1:p.Val624Leu",
        "hgvsWellDefined": "NP_001191232.1:p.Val624Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017608"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830508800",
      "coordinates": [
        {
          "allele": "C",
          "end": 2292,
          "referenceAllele": "G",
          "start": 2291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201413.2:c.2092G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_958816.1:p.Val698Leu",
        "hgvsWellDefined": "NP_958816.1:p.Val698Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045009"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830509009",
      "coordinates": [
        {
          "allele": "C",
          "end": 2124,
          "referenceAllele": "G",
          "start": 2123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201414.2:c.1924G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_958817.1:p.Val642Leu",
        "hgvsWellDefined": "NP_958817.1:p.Val642Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045010"
    },
    {
      "@id": "http://reg.genome.network/allele/PA113635",
      "coordinates": [
        {
          "allele": "C",
          "end": 2299,
          "referenceAllele": "G",
          "start": 2298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_000484.4:c.2149G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000475.1:p.Val717Leu",
        "hgvsWellDefined": "NP_000475.1:p.Val717Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662458",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000346798.8:c.2149G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000484.4:c.2149G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000284981.4:p.Val717Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000475.1:p.Val717Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825817998",
      "coordinates": [
        {
          "allele": "C",
          "end": 1906,
          "referenceAllele": "G",
          "start": 1905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136129.3:c.1756G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129601.1:p.Val586Leu",
        "hgvsWellDefined": "NP_001129601.1:p.Val586Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677401"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825818498",
      "coordinates": [
        {
          "allele": "C",
          "end": 2131,
          "referenceAllele": "G",
          "start": 2130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136130.3:c.1981G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129602.1:p.Val661Leu",
        "hgvsWellDefined": "NP_001129602.1:p.Val661Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677402"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826270386",
      "coordinates": [
        {
          "allele": "C",
          "end": 2245,
          "referenceAllele": "G",
          "start": 2244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204301.2:c.2095G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191230.1:p.Val699Leu",
        "hgvsWellDefined": "NP_001191230.1:p.Val699Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679828"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826270662",
      "coordinates": [
        {
          "allele": "C",
          "end": 2188,
          "referenceAllele": "G",
          "start": 2187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204302.2:c.2038G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191231.1:p.Val680Leu",
        "hgvsWellDefined": "NP_001191231.1:p.Val680Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679829"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826270920",
      "coordinates": [
        {
          "allele": "C",
          "end": 2020,
          "referenceAllele": "G",
          "start": 2019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204303.2:c.1870G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191232.1:p.Val624Leu",
        "hgvsWellDefined": "NP_001191232.1:p.Val624Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679830"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830508800",
      "coordinates": [
        {
          "allele": "C",
          "end": 2242,
          "referenceAllele": "G",
          "start": 2241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201413.3:c.2092G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_958816.1:p.Val698Leu",
        "hgvsWellDefined": "NP_958816.1:p.Val698Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701541"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830509009",
      "coordinates": [
        {
          "allele": "C",
          "end": 2074,
          "referenceAllele": "G",
          "start": 2073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201414.3:c.1924G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_958817.1:p.Val642Leu",
        "hgvsWellDefined": "NP_958817.1:p.Val642Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701542"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825818936",
      "coordinates": [
        {
          "allele": "C",
          "end": 2011,
          "referenceAllele": "G",
          "start": 2010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136131.3:c.1819G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129603.1:p.Val607Leu",
        "hgvsWellDefined": "NP_001129603.1:p.Val607Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712494"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828960854",
      "coordinates": [
        {
          "allele": "C",
          "end": 2131,
          "referenceAllele": "G",
          "start": 2130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001385253.1:c.1981G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372182.1:p.Val661Leu",
        "hgvsWellDefined": "NP_001372182.1:p.Val661Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723592"
    }
  ],
  "type": "nucleotide"
}