{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3389735",
  "communityStandardTitle": [
    "NM_001182.5(ALDH7A1):c.529G>C (p.Ala177Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=259806[alleleid]",
        "alleleId": 259806,
        "preferredName": "NM_001182.5(ALDH7A1):c.529G>C (p.Ala177Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/265032",
        "RCV": [
          "RCV000255047",
          "RCV001785540",
          "RCV002282091",
          "RCV002347969"
        ],
        "variationId": 265032
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-125912892-C-G",
        "id": "5-125912892-C-G",
        "variant": "5:125912892 C / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.125912892C>G?assembly=hg19",
        "id": "chr5:g.125912892C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.126577200C>G?assembly=hg38",
        "id": "chr5:g.126577200C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/140102105",
        "rs": 140102105
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-125912892-C-G?dataset=gnomad_r2_1",
        "id": "5-125912892-C-G",
        "variant": "5:125912892 C / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-126577200-C-G?dataset=gnomad_r3",
        "id": "5-126577200-C-G",
        "variant": "5:126577200 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-126577200-C-G?dataset=gnomad_r4",
        "id": "5-126577200-C-G",
        "variant": "5:126577200 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 126577200,
          "referenceAllele": "C",
          "start": 126577199
        }
      ],
      "hgvs": [
        "NC_000005.10:g.126577200C>G",
        "CM000667.2:g.126577200C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 125912892,
          "referenceAllele": "C",
          "start": 125912891
        }
      ],
      "hgvs": [
        "NC_000005.9:g.125912892C>G",
        "CM000667.1:g.125912892C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 125940791,
          "referenceAllele": "C",
          "start": 125940790
        }
      ],
      "hgvs": [
        "NC_000005.8:g.125940791C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 23191,
          "referenceAllele": "G",
          "start": 23190
        }
      ],
      "hgvs": [
        "NG_008600.2:g.23191G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001122"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 23191,
          "referenceAllele": "G",
          "start": 23190
        }
      ],
      "hgvs": [
        "NG_008600.3:g.23191G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706086"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 550,
          "referenceAllele": "G",
          "start": 549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000409134.8:c.529G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387123.3:p.Ala177Pro",
        "hgvsWellDefined": "ENSP00000387123.3:p.Ala177Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754267",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409134.8:c.529G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001182.5:c.529G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000387123.3:p.Ala177Pro"
          },
          "RefSeq": {
            "hgvs": "NP_001173.2:p.Ala177Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 405,
          "referenceAllele": "G",
          "start": 404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000412186.2:c.405G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414536.2:p.Met135Ile",
        "hgvsWellDefined": "ENSP00000414536.2:p.Met135Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754489"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 549,
          "referenceAllele": "G",
          "start": 548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000413020.6:c.529G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000487936.1:p.Ala177Pro",
        "hgvsWellDefined": "ENSP00000487936.1:p.Ala177Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754518"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 766,
          "referenceAllele": "G",
          "start": 765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000458249.6:c.*438G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403929.1:n.*438G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756631"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 118,
          "referenceAllele": "G",
          "start": 117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000503281.6:c.118G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757969"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 490,
          "referenceAllele": "G",
          "start": 489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000509270.2:c.463G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449318.2:p.Ala155Pro",
        "hgvsWellDefined": "ENSP00000449318.2:p.Ala155Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758173"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 77,
          "referenceAllele": "G",
          "start": 76
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000509459.6:c.77G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758181"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1251,
          "referenceAllele": "G",
          "start": 1250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000511266.6:n.1251G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758238"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 527,
          "referenceAllele": "G",
          "start": 526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000635851.1:c.527G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762683"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 424,
          "referenceAllele": "G",
          "start": 423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636062.1:n.424G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762845"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 588,
          "referenceAllele": "G",
          "start": 587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636225.1:c.*338G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490797.1:n.*338G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762965"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 247,
          "referenceAllele": "G",
          "start": 246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636286.1:n.247G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763010"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 430,
          "referenceAllele": "G",
          "start": 429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636743.1:c.409G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489725.1:p.Ala137Pro",
        "hgvsWellDefined": "ENSP00000489725.1:p.Ala137Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763348"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 736,
          "referenceAllele": "G",
          "start": 735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636808.1:c.*338G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490833.1:n.*338G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763396"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 689,
          "referenceAllele": "G",
          "start": 688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636872.1:c.689G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490919.1:n.689G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763447"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 595,
          "referenceAllele": "G",
          "start": 594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636879.1:c.574G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490811.1:p.Ala192Pro",
        "hgvsWellDefined": "ENSP00000490811.1:p.Ala192Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763452"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 355,
          "referenceAllele": "G",
          "start": 354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636886.1:c.328G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490371.1:p.Ala110Pro",
        "hgvsWellDefined": "ENSP00000490371.1:p.Ala110Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763458"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 600,
          "referenceAllele": "G",
          "start": 599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000637206.1:c.529G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489895.1:p.Ala177Pro",
        "hgvsWellDefined": "ENSP00000489895.1:p.Ala177Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763692"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 550,
          "referenceAllele": "G",
          "start": 549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000637272.1:c.529G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489686.1:p.Ala177Pro",
        "hgvsWellDefined": "ENSP00000489686.1:p.Ala177Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763744"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 182,
          "referenceAllele": "G",
          "start": 181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000637292.1:c.182G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763760"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 550,
          "referenceAllele": "G",
          "start": 549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000637782.1:c.529G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490024.1:p.Ala177Pro",
        "hgvsWellDefined": "ENSP00000490024.1:p.Ala177Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764103"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 495,
          "referenceAllele": "G",
          "start": 494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000637964.1:c.475G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490291.1:p.Ala159Pro",
        "hgvsWellDefined": "ENSP00000490291.1:p.Ala159Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764243"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 736,
          "referenceAllele": "G",
          "start": 735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000638008.1:c.*471G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490400.1:n.*471G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764271"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 749,
          "referenceAllele": "G",
          "start": 748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000409134.7:c.529G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387123.3:p.Ala177Pro",
        "hgvsWellDefined": "ENSP00000387123.3:p.Ala177Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281287"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 549,
          "referenceAllele": "G",
          "start": 548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000413020.5:c.529G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000487936.1:p.Ala177Pro",
        "hgvsWellDefined": "ENSP00000487936.1:p.Ala177Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282872"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 56,
          "referenceAllele": "G",
          "start": 55
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000433026.5:n.56G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS292349"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 721,
          "referenceAllele": "G",
          "start": 720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000447989.6:c.610G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414132.2:p.Ala204Pro",
        "hgvsWellDefined": "ENSP00000414132.2:p.Ala204Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299515"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 689,
          "referenceAllele": "G",
          "start": 688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000458249.5:c.689G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403929.1:n.689G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304317"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 118,
          "referenceAllele": "G",
          "start": 117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000503281.5:c.118G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS335632"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 430,
          "referenceAllele": "G",
          "start": 429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000509270.1:c.409G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449318.1:p.Ala137Pro",
        "hgvsWellDefined": "ENSP00000449318.1:p.Ala137Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340068"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 77,
          "referenceAllele": "G",
          "start": 76
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000509459.5:c.77G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS340215"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 442,
          "referenceAllele": "G",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000510111.6:c.442G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447388.1:p.Ala148Pro",
        "hgvsWellDefined": "ENSP00000447388.1:p.Ala148Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340714"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 360,
          "referenceAllele": "G",
          "start": 359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000511266.5:n.360G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS341573"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 667,
          "referenceAllele": "G",
          "start": 666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000553117.5:c.529G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448593.1:p.Ala177Pro",
        "hgvsWellDefined": "ENSP00000448593.1:p.Ala177Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369644"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645492181",
      "coordinates": [
        {
          "allele": "C",
          "end": 721,
          "referenceAllele": "G",
          "start": 720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001182.4:c.529G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001173.2:p.Ala177Pro",
        "hgvsWellDefined": "NP_001173.2:p.Ala177Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015905"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826253238",
      "coordinates": [
        {
          "allele": "C",
          "end": 721,
          "referenceAllele": "G",
          "start": 720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001201377.1:c.445G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001188306.1:p.Ala149Pro",
        "hgvsWellDefined": "NP_001188306.1:p.Ala149Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017329"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 721,
          "referenceAllele": "G",
          "start": 720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001202404.1:c.610G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189333.1:p.Ala204Pro",
        "hgvsWellDefined": "NP_001189333.1:p.Ala204Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017389"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 712,
          "referenceAllele": "G",
          "start": 711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "XM_011543417.1:c.124G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541719.1:p.Ala42Pro",
        "hgvsWellDefined": "XP_011541719.1:p.Ala42Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110339"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 712,
          "referenceAllele": "G",
          "start": 711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "XM_011543417.2:c.124G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541719.1:p.Ala42Pro",
        "hgvsWellDefined": "XP_011541719.1:p.Ala42Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555214"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645492181",
      "coordinates": [
        {
          "allele": "C",
          "end": 550,
          "referenceAllele": "G",
          "start": 549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001182.5:c.529G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001173.2:p.Ala177Pro",
        "hgvsWellDefined": "NP_001173.2:p.Ala177Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663920",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409134.8:c.529G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001182.5:c.529G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000387123.3:p.Ala177Pro"
          },
          "RefSeq": {
            "hgvs": "NP_001173.2:p.Ala177Pro"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826253238",
      "coordinates": [
        {
          "allele": "C",
          "end": 550,
          "referenceAllele": "G",
          "start": 549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001201377.2:c.445G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001188306.1:p.Ala149Pro",
        "hgvsWellDefined": "NP_001188306.1:p.Ala149Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679672"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916004132",
      "coordinates": [
        {
          "allele": "C",
          "end": 550,
          "referenceAllele": "G",
          "start": 549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001202404.2:c.529G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189333.2:p.Ala177Pro",
        "hgvsWellDefined": "NP_001189333.2:p.Ala177Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679696"
    }
  ],
  "type": "nucleotide"
}