{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3389347",
  "communityStandardTitle": [
    "NM_001182.5(ALDH7A1):c.1566-1G>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=360865[alleleid]",
        "alleleId": 360865,
        "preferredName": "NM_001182.5(ALDH7A1):c.1566-1G>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/374140",
        "RCV": [
          "RCV000414868",
          "RCV000523518",
          "RCV000558837",
          "RCV003902460",
          "RCV003993949"
        ],
        "variationId": 374140
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-125880712-C-A",
        "id": "5-125880712-C-A",
        "variant": "5:125880712 C / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.125880712C>A?assembly=hg19",
        "id": "chr5:g.125880712C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.126545020C>A?assembly=hg38",
        "id": "chr5:g.126545020C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/140845195",
        "rs": 140845195
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-125880712-C-A?dataset=gnomad_r2_1",
        "id": "5-125880712-C-A",
        "variant": "5:125880712 C / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-126545020-C-A?dataset=gnomad_r3",
        "id": "5-126545020-C-A",
        "variant": "5:126545020 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-126545020-C-A?dataset=gnomad_r4",
        "id": "5-126545020-C-A",
        "variant": "5:126545020 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 126545020,
          "referenceAllele": "C",
          "start": 126545019
        }
      ],
      "hgvs": [
        "NC_000005.10:g.126545020C>A",
        "CM000667.2:g.126545020C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 125880712,
          "referenceAllele": "C",
          "start": 125880711
        }
      ],
      "hgvs": [
        "NC_000005.9:g.125880712C>A",
        "CM000667.1:g.125880712C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 125908611,
          "referenceAllele": "C",
          "start": 125908610
        }
      ],
      "hgvs": [
        "NC_000005.8:g.125908611C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 55371,
          "referenceAllele": "G",
          "start": 55370
        }
      ],
      "hgvs": [
        "NG_008600.2:g.55371G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001122"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 55371,
          "referenceAllele": "G",
          "start": 55370
        }
      ],
      "hgvs": [
        "NG_008600.3:g.55371G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706086"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1586,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1586,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000409134.8:c.1566-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387123.3:n.1566-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754267",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409134.8:c.1566-1G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001182.5:c.1566-1G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000387123.3:n.1566-1G>T"
          },
          "RefSeq": {
            "hgvs": "NP_001173.2:n.1566-1G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1802,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1802,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000458249.6:c.*1475-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403929.1:n.*1475-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756631"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 312,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 312,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000485852.7:n.313-1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757518"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1992,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1992,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000497231.7:n.1993-1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757859"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1563,
          "endIntronDirection": "+",
          "endIntronOffset": 1304,
          "referenceAllele": "G",
          "start": 1563,
          "startIntronDirection": "+",
          "startIntronOffset": 1303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000635851.1:c.1563+1304G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762683"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1330,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1330,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636286.1:n.1331-1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763010"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1099,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1099,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636482.1:n.1100-1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763148"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1466,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1466,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636743.1:c.1446-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489725.1:n.1446-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763348"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1772,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1772,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636808.1:c.*1375-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490833.1:n.*1375-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763396"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1725,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1725,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636872.1:c.1726-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490919.1:n.1726-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763447"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1631,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1631,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636879.1:c.1611-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490811.1:n.1611-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763452"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1391,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1391,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636886.1:c.1365-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490371.1:n.1365-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763458"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1456,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1456,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000637206.1:c.1386-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489895.1:n.1386-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763692"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1577,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1577,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000637272.1:c.1557-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489686.1:n.1557-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763744"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1021,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1021,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000637292.1:c.1022-1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763760"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1586,
          "endIntronDirection": "+",
          "endIntronOffset": 1304,
          "referenceAllele": "G",
          "start": 1586,
          "startIntronDirection": "+",
          "startIntronOffset": 1303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000637782.1:c.1565+1304G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490024.1:n.1565+1304G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764103"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1674,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1674,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000638008.1:c.*1410-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490400.1:n.*1410-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764271"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1511,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1511,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000638010.1:n.1512-1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764273"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1785,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1785,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000409134.7:c.1566-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387123.3:n.1566-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281287"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1565,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1565,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000447989.6:c.1455-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414132.2:n.1455-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299515"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 312,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 312,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000485852.6:n.313-1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324788"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1775,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1775,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000497231.6:n.1776-1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333511"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1511,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1511,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000553117.5:c.1374-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448593.1:n.1374-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369644"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1757,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1757,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001182.4:c.1566-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001173.2:n.1566-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015905"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1757,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1757,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001201377.1:c.1482-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001188306.1:n.1482-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017329"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1565,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1565,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001202404.1:c.1455-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189333.1:n.1455-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017389"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1748,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1748,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "XM_011543417.1:c.1161-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541719.1:n.1161-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110339"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1748,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1748,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "XM_011543417.2:c.1161-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541719.1:n.1161-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555214"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1586,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1586,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001182.5:c.1566-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001173.2:n.1566-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663920",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409134.8:c.1566-1G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001182.5:c.1566-1G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000387123.3:n.1566-1G>T"
          },
          "RefSeq": {
            "hgvs": "NP_001173.2:n.1566-1G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1586,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1586,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001201377.2:c.1482-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001188306.1:n.1482-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679672"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1394,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1394,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001202404.2:c.1374-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189333.2:n.1374-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679696"
    }
  ],
  "type": "nucleotide"
}