{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA126887547",
  "communityStandardTitle": [
    "NM_001182.5(ALDH7A1):c.1200+6G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1232753[alleleid]",
        "alleleId": 1232753,
        "preferredName": "NM_001182.5(ALDH7A1):c.1200+6G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1241978",
        "RCV": [
          "RCV001647828",
          "RCV002539577"
        ],
        "variationId": 1241978
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.125889973C>T?assembly=hg19",
        "id": "chr5:g.125889973C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.126554281C>T?assembly=hg38",
        "id": "chr5:g.126554281C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/897504760",
        "rs": 897504760
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-126554281-C-T?dataset=gnomad_r4",
        "id": "5-126554281-C-T",
        "variant": "5:126554281 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 126554281,
          "referenceAllele": "C",
          "start": 126554280
        }
      ],
      "hgvs": [
        "NC_000005.10:g.126554281C>T",
        "CM000667.2:g.126554281C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 125889973,
          "referenceAllele": "C",
          "start": 125889972
        }
      ],
      "hgvs": [
        "NC_000005.9:g.125889973C>T",
        "CM000667.1:g.125889973C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 125917872,
          "referenceAllele": "C",
          "start": 125917871
        }
      ],
      "hgvs": [
        "NC_000005.8:g.125917872C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 46110,
          "referenceAllele": "G",
          "start": 46109
        }
      ],
      "hgvs": [
        "NG_008600.2:g.46110G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001122"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 46110,
          "referenceAllele": "G",
          "start": 46109
        }
      ],
      "hgvs": [
        "NG_008600.3:g.46110G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706086"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1221,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 1221,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000409134.8:c.1200+6G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387123.3:n.1200+6G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754267",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409134.8:c.1200+6G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001182.5:c.1200+6G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000387123.3:n.1200+6G>A"
          },
          "RefSeq": {
            "hgvs": "NP_001173.2:n.1200+6G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1437,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 1437,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000458249.6:c.*1109+6G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403929.1:n.*1109+6G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756631"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1627,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 1627,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000497231.7:n.1627+6G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757859"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 789,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 789,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000503281.6:c.789+6G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757969"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1198,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 1198,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000635851.1:c.1198+6G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762683"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1095,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 1095,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636062.1:n.1095+6G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762845"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1394,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 1394,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636225.1:c.*1144+6G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490797.1:n.*1144+6G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762965"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 918,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 918,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636286.1:n.918+6G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763010"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 687,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 687,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636482.1:n.687+6G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763148"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1101,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 1101,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636743.1:c.1080+6G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489725.1:n.1080+6G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763348"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1407,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 1407,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636808.1:c.*1009+6G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490833.1:n.*1009+6G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763396"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1360,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 1360,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636872.1:c.1360+6G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490919.1:n.1360+6G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763447"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1266,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 1266,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636879.1:c.1245+6G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490811.1:n.1245+6G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763452"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1026,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 1026,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636886.1:c.999+6G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490371.1:n.999+6G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763458"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1091,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 1091,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000637206.1:c.1020+6G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489895.1:n.1020+6G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763692"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1212,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 1212,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000637272.1:c.1191+6G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489686.1:n.1191+6G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763744"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 773,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 773,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000637292.1:c.773+6G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763760"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1221,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 1221,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000637782.1:c.1200+6G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490024.1:n.1200+6G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764103"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1309,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 1309,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000638008.1:c.*1044+6G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490400.1:n.*1044+6G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764271"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1146,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 1146,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000638010.1:n.1146+6G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764273"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1420,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 1420,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000409134.7:c.1200+6G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387123.3:n.1200+6G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281287"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1200,
          "endIntronDirection": "-",
          "endIntronOffset": 2143,
          "referenceAllele": "G",
          "start": 1200,
          "startIntronDirection": "-",
          "startIntronOffset": 2144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000447989.6:c.1090-2144G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414132.2:n.1090-2144G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299515"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1410,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 1410,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000497231.6:n.1410+6G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333511"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 789,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 789,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000503281.5:c.789+6G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS335632"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1146,
          "endIntronDirection": "-",
          "endIntronOffset": 2143,
          "referenceAllele": "G",
          "start": 1146,
          "startIntronDirection": "-",
          "startIntronOffset": 2144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000553117.5:c.1009-2144G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448593.1:n.1009-2144G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369644"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1392,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 1392,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001182.4:c.1200+6G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001173.2:n.1200+6G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015905"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1392,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 1392,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001201377.1:c.1116+6G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001188306.1:n.1116+6G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017329"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1200,
          "endIntronDirection": "-",
          "endIntronOffset": 2143,
          "referenceAllele": "G",
          "start": 1200,
          "startIntronDirection": "-",
          "startIntronOffset": 2144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001202404.1:c.1090-2144G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189333.1:n.1090-2144G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017389"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1383,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 1383,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "XM_011543417.1:c.795+6G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541719.1:n.795+6G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110339"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1383,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 1383,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "XM_011543417.2:c.795+6G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541719.1:n.795+6G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555214"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1221,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 1221,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001182.5:c.1200+6G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001173.2:n.1200+6G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663920",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409134.8:c.1200+6G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001182.5:c.1200+6G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000387123.3:n.1200+6G>A"
          },
          "RefSeq": {
            "hgvs": "NP_001173.2:n.1200+6G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1221,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 1221,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001201377.2:c.1116+6G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001188306.1:n.1116+6G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679672"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1029,
          "endIntronDirection": "-",
          "endIntronOffset": 2143,
          "referenceAllele": "G",
          "start": 1029,
          "startIntronDirection": "-",
          "startIntronOffset": 2144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001202404.2:c.1009-2144G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189333.2:n.1009-2144G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679696"
    }
  ],
  "type": "nucleotide"
}