{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA126915148",
  "communityStandardTitle": [
    "NM_001182.5(ALDH7A1):c.494G>T (p.Gly165Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=829876[alleleid]",
        "alleleId": 829876,
        "preferredName": "NM_001182.5(ALDH7A1):c.494G>T (p.Gly165Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/847168",
        "RCV": [
          "RCV001050658",
          "RCV001268456"
        ],
        "variationId": 847168
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.125918566C>A?assembly=hg19",
        "id": "chr5:g.125918566C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.126582874C>A?assembly=hg38",
        "id": "chr5:g.126582874C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/375491094",
        "rs": 375491094
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-125918566-C-A?dataset=gnomad_r2_1",
        "id": "5-125918566-C-A",
        "variant": "5:125918566 C / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-126582874-C-A?dataset=gnomad_r3",
        "id": "5-126582874-C-A",
        "variant": "5:126582874 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-126582874-C-A?dataset=gnomad_r4",
        "id": "5-126582874-C-A",
        "variant": "5:126582874 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 126582874,
          "referenceAllele": "C",
          "start": 126582873
        }
      ],
      "hgvs": [
        "NC_000005.10:g.126582874C>A",
        "CM000667.2:g.126582874C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 125918566,
          "referenceAllele": "C",
          "start": 125918565
        }
      ],
      "hgvs": [
        "NC_000005.9:g.125918566C>A",
        "CM000667.1:g.125918566C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 125946465,
          "referenceAllele": "C",
          "start": 125946464
        }
      ],
      "hgvs": [
        "NC_000005.8:g.125946465C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 17517,
          "referenceAllele": "G",
          "start": 17516
        }
      ],
      "hgvs": [
        "NG_008600.2:g.17517G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001122"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 17517,
          "referenceAllele": "G",
          "start": 17516
        }
      ],
      "hgvs": [
        "NG_008600.3:g.17517G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706086"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 515,
          "referenceAllele": "G",
          "start": 514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000409134.8:c.494G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387123.3:p.Gly165Val",
        "hgvsWellDefined": "ENSP00000387123.3:p.Gly165Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754267",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409134.8:c.494G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001182.5:c.494G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000387123.3:p.Gly165Val"
          },
          "RefSeq": {
            "hgvs": "NP_001173.2:p.Gly165Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 393,
          "endIntronDirection": "+",
          "endIntronOffset": 1058,
          "referenceAllele": "G",
          "start": 393,
          "startIntronDirection": "+",
          "startIntronOffset": 1057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000412186.2:c.393+1058G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414536.2:n.393+1058G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754489"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 514,
          "referenceAllele": "G",
          "start": 513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000413020.6:c.494G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000487936.1:p.Gly165Val",
        "hgvsWellDefined": "ENSP00000487936.1:p.Gly165Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754518"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 731,
          "referenceAllele": "G",
          "start": 730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000458249.6:c.*403G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403929.1:n.*403G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756631"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 106,
          "endIntronDirection": "-",
          "endIntronOffset": 5662,
          "referenceAllele": "G",
          "start": 106,
          "startIntronDirection": "-",
          "startIntronOffset": 5663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000503281.6:c.107-5663G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757969"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 455,
          "referenceAllele": "G",
          "start": 454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000509270.2:c.428G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449318.2:p.Gly143Val",
        "hgvsWellDefined": "ENSP00000449318.2:p.Gly143Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758173"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 65,
          "endIntronDirection": "-",
          "endIntronOffset": 5662,
          "referenceAllele": "G",
          "start": 65,
          "startIntronDirection": "-",
          "startIntronOffset": 5663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000509459.6:c.66-5663G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758181"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1216,
          "referenceAllele": "G",
          "start": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000511266.6:n.1216G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758238"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 492,
          "referenceAllele": "G",
          "start": 491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000635851.1:c.492G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762683"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 389,
          "referenceAllele": "G",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636062.1:n.389G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762845"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 373,
          "referenceAllele": "G",
          "start": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636190.1:n.373G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762939"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 553,
          "referenceAllele": "G",
          "start": 552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636225.1:c.*303G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490797.1:n.*303G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762965"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 212,
          "referenceAllele": "G",
          "start": 211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636286.1:n.212G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763010"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 395,
          "referenceAllele": "G",
          "start": 394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636743.1:c.374G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489725.1:p.Gly125Val",
        "hgvsWellDefined": "ENSP00000489725.1:p.Gly125Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763348"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 701,
          "referenceAllele": "G",
          "start": 700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636808.1:c.*303G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490833.1:n.*303G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763396"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 654,
          "referenceAllele": "G",
          "start": 653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636872.1:c.654G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490919.1:n.654G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763447"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 515,
          "referenceAllele": "G",
          "start": 514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636879.1:c.494G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490811.1:p.Gly165Val",
        "hgvsWellDefined": "ENSP00000490811.1:p.Gly165Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763452"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 320,
          "referenceAllele": "G",
          "start": 319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636886.1:c.293G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490371.1:p.Gly98Val",
        "hgvsWellDefined": "ENSP00000490371.1:p.Gly98Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763458"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 108,
          "referenceAllele": "G",
          "start": 107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000637070.1:n.108G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763588"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 565,
          "referenceAllele": "G",
          "start": 564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000637206.1:c.494G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489895.1:p.Gly165Val",
        "hgvsWellDefined": "ENSP00000489895.1:p.Gly165Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763692"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 515,
          "referenceAllele": "G",
          "start": 514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000637272.1:c.494G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489686.1:p.Gly165Val",
        "hgvsWellDefined": "ENSP00000489686.1:p.Gly165Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763744"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 147,
          "referenceAllele": "G",
          "start": 146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000637292.1:c.147G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763760"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 515,
          "referenceAllele": "G",
          "start": 514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000637782.1:c.494G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490024.1:p.Gly165Val",
        "hgvsWellDefined": "ENSP00000490024.1:p.Gly165Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764103"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 460,
          "referenceAllele": "G",
          "start": 459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000637964.1:c.440G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490291.1:p.Gly147Val",
        "hgvsWellDefined": "ENSP00000490291.1:p.Gly147Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764243"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 701,
          "referenceAllele": "G",
          "start": 700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000638008.1:c.*436G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490400.1:n.*436G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764271"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 714,
          "referenceAllele": "G",
          "start": 713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000409134.7:c.494G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387123.3:p.Gly165Val",
        "hgvsWellDefined": "ENSP00000387123.3:p.Gly165Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281287"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 514,
          "referenceAllele": "G",
          "start": 513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000413020.5:c.494G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000487936.1:p.Gly165Val",
        "hgvsWellDefined": "ENSP00000487936.1:p.Gly165Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282872"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 686,
          "referenceAllele": "G",
          "start": 685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000447989.6:c.575G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414132.2:p.Gly192Val",
        "hgvsWellDefined": "ENSP00000414132.2:p.Gly192Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299515"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 654,
          "referenceAllele": "G",
          "start": 653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000458249.5:c.654G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403929.1:n.654G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304317"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 106,
          "endIntronDirection": "-",
          "endIntronOffset": 5662,
          "referenceAllele": "G",
          "start": 106,
          "startIntronDirection": "-",
          "startIntronOffset": 5663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000503281.5:c.107-5663G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS335632"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 395,
          "referenceAllele": "G",
          "start": 394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000509270.1:c.374G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449318.1:p.Gly125Val",
        "hgvsWellDefined": "ENSP00000449318.1:p.Gly125Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340068"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 65,
          "endIntronDirection": "-",
          "endIntronOffset": 5662,
          "referenceAllele": "G",
          "start": 65,
          "startIntronDirection": "-",
          "startIntronOffset": 5663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000509459.5:c.66-5663G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS340215"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 407,
          "referenceAllele": "G",
          "start": 406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000510111.6:c.407G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447388.1:p.Gly136Val",
        "hgvsWellDefined": "ENSP00000447388.1:p.Gly136Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340714"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 348,
          "endIntronDirection": "+",
          "endIntronOffset": 1058,
          "referenceAllele": "G",
          "start": 348,
          "startIntronDirection": "+",
          "startIntronOffset": 1057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000511266.5:n.348+1058G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS341573"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 632,
          "referenceAllele": "G",
          "start": 631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000553117.5:c.494G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448593.1:p.Gly165Val",
        "hgvsWellDefined": "ENSP00000448593.1:p.Gly165Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369644"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826115304",
      "coordinates": [
        {
          "allele": "T",
          "end": 686,
          "referenceAllele": "G",
          "start": 685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001182.4:c.494G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001173.2:p.Gly165Val",
        "hgvsWellDefined": "NP_001173.2:p.Gly165Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015905"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826253230",
      "coordinates": [
        {
          "allele": "T",
          "end": 686,
          "referenceAllele": "G",
          "start": 685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001201377.1:c.410G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001188306.1:p.Gly137Val",
        "hgvsWellDefined": "NP_001188306.1:p.Gly137Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017329"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 686,
          "referenceAllele": "G",
          "start": 685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001202404.1:c.575G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189333.1:p.Gly192Val",
        "hgvsWellDefined": "NP_001189333.1:p.Gly192Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017389"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 677,
          "referenceAllele": "G",
          "start": 676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "XM_011543417.1:c.89G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541719.1:p.Gly30Val",
        "hgvsWellDefined": "XP_011541719.1:p.Gly30Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110339"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 677,
          "referenceAllele": "G",
          "start": 676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "XM_011543417.2:c.89G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541719.1:p.Gly30Val",
        "hgvsWellDefined": "XP_011541719.1:p.Gly30Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555214"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826115304",
      "coordinates": [
        {
          "allele": "T",
          "end": 515,
          "referenceAllele": "G",
          "start": 514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001182.5:c.494G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001173.2:p.Gly165Val",
        "hgvsWellDefined": "NP_001173.2:p.Gly165Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663920",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409134.8:c.494G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001182.5:c.494G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000387123.3:p.Gly165Val"
          },
          "RefSeq": {
            "hgvs": "NP_001173.2:p.Gly165Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826253230",
      "coordinates": [
        {
          "allele": "T",
          "end": 515,
          "referenceAllele": "G",
          "start": 514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001201377.2:c.410G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001188306.1:p.Gly137Val",
        "hgvsWellDefined": "NP_001188306.1:p.Gly137Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679672"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139690264",
      "coordinates": [
        {
          "allele": "T",
          "end": 515,
          "referenceAllele": "G",
          "start": 514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001202404.2:c.494G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189333.2:p.Gly165Val",
        "hgvsWellDefined": "NP_001189333.2:p.Gly165Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679696"
    }
  ],
  "type": "nucleotide"
}