{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16618100",
  "communityStandardTitle": [
    "NM_001182.5(ALDH7A1):c.901_902del (p.Asn301CysfsTer6)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=406607[alleleid]",
        "alleleId": 406607,
        "preferredName": "NM_001182.5(ALDH7A1):c.901_902del (p.Asn301fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/420017",
        "RCV": [
          "RCV000483865",
          "RCV001216446"
        ],
        "variationId": 420017
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.125896786_125896787del?assembly=hg19",
        "id": "chr5:g.125896786_125896787del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.126561094_126561095del?assembly=hg38",
        "id": "chr5:g.126561094_126561095del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064794240",
        "rs": 1064794240
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-125896785-ATT-A?dataset=gnomad_r2_1",
        "id": "5-125896785-ATT-A",
        "variant": "5:125896785 ATT / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-126561093-ATT-A?dataset=gnomad_r4",
        "id": "5-126561093-ATT-A",
        "variant": "5:126561093 ATT / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "",
          "end": 126561095,
          "referenceAllele": "TT",
          "start": 126561093
        }
      ],
      "hgvs": [
        "NC_000005.10:g.126561094_126561095del",
        "CM000667.2:g.126561094_126561095del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "",
          "end": 125896787,
          "referenceAllele": "TT",
          "start": 125896785
        }
      ],
      "hgvs": [
        "NC_000005.9:g.125896786_125896787del",
        "CM000667.1:g.125896786_125896787del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "",
          "end": 125924686,
          "referenceAllele": "TT",
          "start": 125924684
        }
      ],
      "hgvs": [
        "NC_000005.8:g.125924685_125924686del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 39297,
          "referenceAllele": "AA",
          "start": 39295
        }
      ],
      "hgvs": [
        "NG_008600.2:g.39296_39297del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001122"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 39297,
          "referenceAllele": "AA",
          "start": 39295
        }
      ],
      "hgvs": [
        "NG_008600.3:g.39296_39297del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706086"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 923,
          "referenceAllele": "AA",
          "start": 921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000409134.8:c.901_902del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387123.3:p.Asn301CysfsTer6",
        "hgvsWellDefined": "ENSP00000387123.3:p.[Asn301_Asp310delinsCysHisTyrCys;Ser312_Cys330del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754267",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409134.8:c.901_902del"
          },
          "RefSeq": {
            "hgvs": "NM_001182.5:c.901_902del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000387123.3:p.Asn301CysfsTer6"
          },
          "RefSeq": {
            "hgvs": "NP_001173.2:p.Asn301CysfsTer6"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1139,
          "referenceAllele": "AA",
          "start": 1137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000458249.6:c.*810_*811del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403929.1:n.*810_*811del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756631"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1329,
          "referenceAllele": "AA",
          "start": 1327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000497231.7:n.1328_1329del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757859"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 491,
          "referenceAllele": "AA",
          "start": 489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000503281.6:c.490_491del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757969"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 450,
          "referenceAllele": "AA",
          "start": 448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000509459.6:c.449_450del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758181"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 900,
          "referenceAllele": "AA",
          "start": 898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000635851.1:c.899_900del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762683"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 797,
          "referenceAllele": "AA",
          "start": 795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636062.1:n.796_797del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762845"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1096,
          "referenceAllele": "AA",
          "start": 1094
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636225.1:c.*845_*846del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490797.1:n.*845_*846del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762965"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 620,
          "referenceAllele": "AA",
          "start": 618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636286.1:n.619_620del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763010"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 389,
          "referenceAllele": "AA",
          "start": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636482.1:n.388_389del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763148"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 803,
          "referenceAllele": "AA",
          "start": 801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636743.1:c.781_782del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489725.1:p.Asn261CysfsTer6",
        "hgvsWellDefined": "ENSP00000489725.1:p.[Asn261_Asp270delinsCysHisTyrCys;Ser272_Cys290del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763348"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1109,
          "referenceAllele": "AA",
          "start": 1107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636808.1:c.*710_*711del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490833.1:n.*710_*711del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763396"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1062,
          "referenceAllele": "AA",
          "start": 1060
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636872.1:c.1061_1062del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490919.1:n.1061_1062del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763447"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 968,
          "referenceAllele": "AA",
          "start": 966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636879.1:c.946_947del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490811.1:p.Asn316CysfsTer6",
        "hgvsWellDefined": "ENSP00000490811.1:p.[Asn316_Asp325delinsCysHisTyrCys;Ser327_Cys345del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763452"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 728,
          "referenceAllele": "AA",
          "start": 726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636886.1:c.700_701del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490371.1:p.Asn234CysfsTer6",
        "hgvsWellDefined": "ENSP00000490371.1:p.[Asn234_Asp243delinsCysHisTyrCys;Ser245_Cys263del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763458"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 973,
          "referenceAllele": "AA",
          "start": 971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000637206.1:c.901_902del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489895.1:p.Asn301CysfsTer5",
        "hgvsWellDefined": "ENSP00000489895.1:p.[Asn301_Leu308delinsCysHis;Gly310_Lys330delinsCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763692"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 923,
          "referenceAllele": "AA",
          "start": 921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000637272.1:c.901_902del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489686.1:p.Asn301CysfsTer4",
        "hgvsWellDefined": "ENSP00000489686.1:p.[Asn301_Arg326del;Thr328_Ala330delinsHisTyr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763744"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 457,
          "referenceAllele": "AA",
          "start": 455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000637292.1:c.456_457del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763760"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 923,
          "referenceAllele": "AA",
          "start": 921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000637782.1:c.901_902del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490024.1:p.Asn301CysfsTer6",
        "hgvsWellDefined": "ENSP00000490024.1:p.[Asn301_Asp310delinsCysHisTyrCys;Ser312_Cys330del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764103"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 868,
          "referenceAllele": "AA",
          "start": 866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000637964.1:c.847_848del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490291.1:p.Asn283CysfsTer6",
        "hgvsWellDefined": "ENSP00000490291.1:p.[Asn283_Asp292delinsCysHisTyrCys;Ser294_Cys312del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764243"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1011,
          "referenceAllele": "AA",
          "start": 1009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000638008.1:c.*745_*746del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490400.1:n.*745_*746del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764271"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1122,
          "referenceAllele": "AA",
          "start": 1120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000409134.7:c.901_902del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387123.3:p.Asn301CysfsTer6",
        "hgvsWellDefined": "ENSP00000387123.3:p.[Asn301_Asp310delinsCysHisTyrCys;Ser312_Cys330del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281287"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1094,
          "referenceAllele": "AA",
          "start": 1092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000447989.6:c.982_983del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414132.2:p.Asn328CysfsTer6",
        "hgvsWellDefined": "ENSP00000414132.2:p.[Asn328_Asp337delinsCysHisTyrCys;Ser339_Cys357del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299515"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1112,
          "referenceAllele": "AA",
          "start": 1110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000497231.6:n.1111_1112del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333511"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 491,
          "referenceAllele": "AA",
          "start": 489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000503281.5:c.490_491del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS335632"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 450,
          "referenceAllele": "AA",
          "start": 448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000509459.5:c.449_450del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS340215"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1040,
          "referenceAllele": "AA",
          "start": 1038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000553117.5:c.901_902del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448593.1:p.Asn301CysfsTer6",
        "hgvsWellDefined": "ENSP00000448593.1:p.[Asn301_Asp310delinsCysHisTyrCys;Ser312_Cys330del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369644"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1094,
          "referenceAllele": "AA",
          "start": 1092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001182.4:c.901_902del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001173.2:p.Asn301CysfsTer6",
        "hgvsWellDefined": "NP_001173.2:p.[Asn301_Asp310delinsCysHisTyrCys;Ser312_Cys330del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015905"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1094,
          "referenceAllele": "AA",
          "start": 1092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001201377.1:c.817_818del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001188306.1:p.Asn273CysfsTer6",
        "hgvsWellDefined": "NP_001188306.1:p.[Asn273_Asp282delinsCysHisTyrCys;Ser284_Cys302del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017329"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1094,
          "referenceAllele": "AA",
          "start": 1092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001202404.1:c.982_983del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189333.1:p.Asn328CysfsTer6",
        "hgvsWellDefined": "NP_001189333.1:p.[Asn328_Asp337delinsCysHisTyrCys;Ser339_Cys357del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017389"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1085,
          "referenceAllele": "AA",
          "start": 1083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "XM_011543417.1:c.496_497del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541719.1:p.Asn166CysfsTer6",
        "hgvsWellDefined": "XP_011541719.1:p.[Asn166_Asp175delinsCysHisTyrCys;Ser177_Cys195del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110339"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1085,
          "referenceAllele": "AA",
          "start": 1083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "XM_011543417.2:c.496_497del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541719.1:p.Asn166CysfsTer6",
        "hgvsWellDefined": "XP_011541719.1:p.[Asn166_Asp175delinsCysHisTyrCys;Ser177_Cys195del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555214"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 923,
          "referenceAllele": "AA",
          "start": 921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001182.5:c.901_902del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001173.2:p.Asn301CysfsTer6",
        "hgvsWellDefined": "NP_001173.2:p.[Asn301_Asp310delinsCysHisTyrCys;Ser312_Cys330del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663920",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409134.8:c.901_902del"
          },
          "RefSeq": {
            "hgvs": "NM_001182.5:c.901_902del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000387123.3:p.Asn301CysfsTer6"
          },
          "RefSeq": {
            "hgvs": "NP_001173.2:p.Asn301CysfsTer6"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 923,
          "referenceAllele": "AA",
          "start": 921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001201377.2:c.817_818del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001188306.1:p.Asn273CysfsTer6",
        "hgvsWellDefined": "NP_001188306.1:p.[Asn273_Asp282delinsCysHisTyrCys;Ser284_Cys302del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679672"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 923,
          "referenceAllele": "AA",
          "start": 921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001202404.2:c.901_902del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189333.2:p.Asn301CysfsTer6",
        "hgvsWellDefined": "NP_001189333.2:p.[Asn301_Asp310delinsCysHisTyrCys;Ser312_Cys330del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679696"
    }
  ],
  "type": "nucleotide"
}