{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10247865",
  "communityStandardTitle": [
    "NM_000026.4(ADSL):c.886C>T (p.Arg296Trp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=446420[alleleid]",
        "alleleId": 446420,
        "preferredName": "NM_000026.4(ADSL):c.886C>T (p.Arg296Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/450065",
        "RCV": [
          "RCV000521643",
          "RCV001350739",
          "RCV002527600",
          "RCV001814999"
        ],
        "variationId": 450065
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/22-40757515-C-T",
        "id": "22-40757515-C-T",
        "variant": "22:40757515 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.40757515C>T?assembly=hg19",
        "id": "chr22:g.40757515C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.40361511C>T?assembly=hg38",
        "id": "chr22:g.40361511C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/536254357",
        "rs": 536254357
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-40757515-C-T?dataset=gnomad_r2_1",
        "id": "22-40757515-C-T",
        "variant": "22:40757515 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-40361511-C-T?dataset=gnomad_r3",
        "id": "22-40361511-C-T",
        "variant": "22:40361511 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-40361511-C-T?dataset=gnomad_r4",
        "id": "22-40361511-C-T",
        "variant": "22:40361511 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 40361511,
          "referenceAllele": "C",
          "start": 40361510
        }
      ],
      "hgvs": [
        "NC_000022.11:g.40361511C>T",
        "CM000684.2:g.40361511C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 40757515,
          "referenceAllele": "C",
          "start": 40757514
        }
      ],
      "hgvs": [
        "NC_000022.10:g.40757515C>T",
        "CM000684.1:g.40757515C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 39087461,
          "referenceAllele": "C",
          "start": 39087460
        }
      ],
      "hgvs": [
        "NC_000022.9:g.39087461C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 20012,
          "referenceAllele": "C",
          "start": 20011
        }
      ],
      "hgvs": [
        "NG_007993.1:g.20012C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000760"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 20012,
          "referenceAllele": "C",
          "start": 20011
        }
      ],
      "hgvs": [
        "NG_007993.2:g.20012C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616087"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1116,
          "referenceAllele": "C",
          "start": 1115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000480775.3:c.*249C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485462.2:n.*249C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757347"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 790,
          "referenceAllele": "C",
          "start": 789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000623287.4:c.*311C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485437.1:n.*311C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762400"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 890,
          "endIntronDirection": "+",
          "endIntronOffset": 1019,
          "referenceAllele": "C",
          "start": 890,
          "startIntronDirection": "+",
          "startIntronOffset": 1018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000623632.4:c.792+1019C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485288.2:n.792+1019C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762411"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 945,
          "referenceAllele": "C",
          "start": 944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000625194.4:c.886C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485289.2:p.Arg296Trp",
        "hgvsWellDefined": "ENSP00000485289.2:p.Arg296Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762458"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 916,
          "referenceAllele": "C",
          "start": 915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000636265.1:c.886C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490909.1:p.Arg296Trp",
        "hgvsWellDefined": "ENSP00000490909.1:p.Arg296Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762996"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 908,
          "referenceAllele": "C",
          "start": 907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000636433.1:n.908C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763110"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 931,
          "referenceAllele": "C",
          "start": 930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000636714.1:c.886C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490946.1:p.Arg296Trp",
        "hgvsWellDefined": "ENSP00000490946.1:p.Arg296Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763329"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 945,
          "referenceAllele": "C",
          "start": 944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000637666.2:c.886C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489696.2:p.Arg296Trp",
        "hgvsWellDefined": "ENSP00000489696.2:p.Arg296Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764026"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 921,
          "referenceAllele": "C",
          "start": 920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000637669.1:c.886C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489728.1:p.Arg296Trp",
        "hgvsWellDefined": "ENSP00000489728.1:p.Arg296Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764029"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1041,
          "referenceAllele": "C",
          "start": 1040
        }
      ],
      "hgvs": [
        "ENST00000639722.1:c.*582C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492828.1:n.*582C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765151"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1055,
          "referenceAllele": "C",
          "start": 1054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000674592.1:n.1055C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774537"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3953,
          "referenceAllele": "C",
          "start": 3952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000675622.1:n.3953C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775415"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 975,
          "referenceAllele": "C",
          "start": 974
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000679609.1:c.*496C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506592.1:n.*496C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779237"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1571,
          "referenceAllele": "C",
          "start": 1570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000679656.1:n.1571C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779283"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 900,
          "referenceAllele": "C",
          "start": 899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000679723.1:c.841C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505155.1:p.Arg281Trp",
        "hgvsWellDefined": "ENSP00000505155.1:p.Arg281Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779350"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1194,
          "referenceAllele": "C",
          "start": 1193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000679845.1:n.1194C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779467"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1282,
          "referenceAllele": "C",
          "start": 1281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000679904.1:n.1282C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779526"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 977,
          "referenceAllele": "C",
          "start": 976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000680378.1:c.973C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505556.1:p.Arg325Trp",
        "hgvsWellDefined": "ENSP00000505556.1:p.Arg325Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779996"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1116,
          "referenceAllele": "C",
          "start": 1115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000680444.1:c.*249C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505298.1:n.*249C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780061"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 945,
          "referenceAllele": "C",
          "start": 944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000680978.1:c.886C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505244.1:p.Arg296Trp",
        "hgvsWellDefined": "ENSP00000505244.1:p.Arg296Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780592"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 318,
          "referenceAllele": "C",
          "start": 317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000681003.1:n.318C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780617"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 945,
          "referenceAllele": "C",
          "start": 944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000681159.1:n.945C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780771"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 959,
          "referenceAllele": "C",
          "start": 958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000216194.11:c.928C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000216194.8:p.Arg310Trp",
        "hgvsWellDefined": "ENSP00000216194.8:p.Arg310Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247967"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 942,
          "referenceAllele": "C",
          "start": 941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000342312.9:c.886C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341429.6:p.Arg296Trp",
        "hgvsWellDefined": "ENSP00000341429.6:p.Arg296Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261527"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 485,
          "referenceAllele": "C",
          "start": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000480775.2:c.485C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS320844"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 945,
          "referenceAllele": "C",
          "start": 944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000623063.3:c.886C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485525.1:p.Arg296Trp",
        "hgvsWellDefined": "ENSP00000485525.1:p.Arg296Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405987",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000623063.3:c.886C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000026.4:c.886C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000485525.1:p.Arg296Trp"
          },
          "RefSeq": {
            "hgvs": "NP_000017.1:p.Arg296Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 790,
          "referenceAllele": "C",
          "start": 789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000623287.3:c.*311C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485437.1:n.*311C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406041"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 657,
          "referenceAllele": "C",
          "start": 656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000623978.3:c.346C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485477.1:p.Arg116Trp",
        "hgvsWellDefined": "ENSP00000485477.1:p.Arg116Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406222"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 473,
          "referenceAllele": "C",
          "start": 472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000625194.3:c.473C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS406535"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658665443",
      "coordinates": [
        {
          "allele": "T",
          "end": 945,
          "referenceAllele": "C",
          "start": 944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NM_000026.2:c.886C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000017.1:p.Arg296Trp",
        "hgvsWellDefined": "NP_000017.1:p.Arg296Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006091"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825589998",
      "coordinates": [
        {
          "allele": "T",
          "end": 945,
          "referenceAllele": "C",
          "start": 944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NM_001123378.1:c.886C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001116850.1:p.Arg296Trp",
        "hgvsWellDefined": "NP_001116850.1:p.Arg296Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011454"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 945,
          "referenceAllele": "C",
          "start": 944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_011529976.1:c.886C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528278.1:p.Arg296Trp",
        "hgvsWellDefined": "XP_011528278.1:p.Arg296Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097035"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 945,
          "referenceAllele": "C",
          "start": 944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_011529977.1:c.886C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528279.1:p.Arg296Trp",
        "hgvsWellDefined": "XP_011528279.1:p.Arg296Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097036"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 945,
          "referenceAllele": "C",
          "start": 944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_011529978.1:c.886C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528280.1:p.Arg296Trp",
        "hgvsWellDefined": "XP_011528280.1:p.Arg296Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097037"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 945,
          "referenceAllele": "C",
          "start": 944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_011529979.1:c.886C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528281.1:p.Arg296Trp",
        "hgvsWellDefined": "XP_011528281.1:p.Arg296Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097038"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 945,
          "referenceAllele": "C",
          "start": 944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_011529980.1:c.886C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528282.1:p.Arg296Trp",
        "hgvsWellDefined": "XP_011528282.1:p.Arg296Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097039"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 802,
          "referenceAllele": "C",
          "start": 801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_011529981.1:c.421C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528283.1:p.Arg141Trp",
        "hgvsWellDefined": "XP_011528283.1:p.Arg141Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097040"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 485,
          "referenceAllele": "C",
          "start": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_011529982.1:c.55C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528284.1:p.Arg19Trp",
        "hgvsWellDefined": "XP_011528284.1:p.Arg19Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097041"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 945,
          "referenceAllele": "C",
          "start": 944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XR_937824.1:n.945C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS132626"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 945,
          "referenceAllele": "C",
          "start": 944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XR_937825.1:n.945C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS132627"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1130,
          "referenceAllele": "C",
          "start": 1129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XR_937826.1:n.1130C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS132628"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658665443",
      "coordinates": [
        {
          "allele": "T",
          "end": 945,
          "referenceAllele": "C",
          "start": 944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NM_000026.3:c.886C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000017.1:p.Arg296Trp",
        "hgvsWellDefined": "NP_000017.1:p.Arg296Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510737"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825589998",
      "coordinates": [
        {
          "allele": "T",
          "end": 945,
          "referenceAllele": "C",
          "start": 944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NM_001123378.2:c.886C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001116850.1:p.Arg296Trp",
        "hgvsWellDefined": "NP_001116850.1:p.Arg296Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511387"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826972293",
      "coordinates": [
        {
          "allele": "T",
          "end": 890,
          "referenceAllele": "C",
          "start": 889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NM_001317923.1:c.694C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001304852.1:p.Arg232Trp",
        "hgvsWellDefined": "NP_001304852.1:p.Arg232Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512598"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916044486",
      "coordinates": [
        {
          "allele": "T",
          "end": 945,
          "referenceAllele": "C",
          "start": 944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NM_001363840.1:c.886C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350769.1:p.Arg296Trp",
        "hgvsWellDefined": "NP_001350769.1:p.Arg296Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523595"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 945,
          "referenceAllele": "C",
          "start": 944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NR_134256.1:n.945C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS527496"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 943,
          "referenceAllele": "C",
          "start": 942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_011529977.3:c.886C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528279.1:p.Arg296Trp",
        "hgvsWellDefined": "XP_011528279.1:p.Arg296Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549749"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 943,
          "referenceAllele": "C",
          "start": 942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_011529980.3:c.886C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528282.1:p.Arg296Trp",
        "hgvsWellDefined": "XP_011528282.1:p.Arg296Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549750"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 882,
          "referenceAllele": "C",
          "start": 881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_017028636.1:c.841C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884125.1:p.Arg281Trp",
        "hgvsWellDefined": "XP_016884125.1:p.Arg281Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578329"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 865,
          "referenceAllele": "C",
          "start": 864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_017028637.1:c.841C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884126.1:p.Arg281Trp",
        "hgvsWellDefined": "XP_016884126.1:p.Arg281Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578330"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 802,
          "referenceAllele": "C",
          "start": 801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_017028638.1:c.421C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884127.1:p.Arg141Trp",
        "hgvsWellDefined": "XP_016884127.1:p.Arg141Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578331"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 786,
          "referenceAllele": "C",
          "start": 785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_017028639.2:c.421C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884128.1:p.Arg141Trp",
        "hgvsWellDefined": "XP_016884128.1:p.Arg141Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578332"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 485,
          "referenceAllele": "C",
          "start": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_017028640.1:c.55C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884129.1:p.Arg19Trp",
        "hgvsWellDefined": "XP_016884129.1:p.Arg19Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578333"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 882,
          "referenceAllele": "C",
          "start": 881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_024452166.1:c.841C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307934.1:p.Arg281Trp",
        "hgvsWellDefined": "XP_024307934.1:p.Arg281Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585664"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1128,
          "referenceAllele": "C",
          "start": 1127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XR_001755176.2:n.1128C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS601039"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 882,
          "referenceAllele": "C",
          "start": 881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XR_002958670.1:n.882C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604795"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1128,
          "referenceAllele": "C",
          "start": 1127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XR_002958671.1:n.1128C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604796"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 943,
          "referenceAllele": "C",
          "start": 942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XR_937825.3:n.943C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS611738"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658665443",
      "coordinates": [
        {
          "allele": "T",
          "end": 945,
          "referenceAllele": "C",
          "start": 944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NM_000026.4:c.886C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000017.1:p.Arg296Trp",
        "hgvsWellDefined": "NP_000017.1:p.Arg296Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662289",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000623063.3:c.886C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000026.4:c.886C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000485525.1:p.Arg296Trp"
          },
          "RefSeq": {
            "hgvs": "NP_000017.1:p.Arg296Trp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916044486",
      "coordinates": [
        {
          "allele": "T",
          "end": 945,
          "referenceAllele": "C",
          "start": 944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NM_001363840.2:c.886C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350769.1:p.Arg296Trp",
        "hgvsWellDefined": "NP_001350769.1:p.Arg296Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690783"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825589998",
      "coordinates": [
        {
          "allele": "T",
          "end": 945,
          "referenceAllele": "C",
          "start": 944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NM_001123378.3:c.886C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001116850.1:p.Arg296Trp",
        "hgvsWellDefined": "NP_001116850.1:p.Arg296Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712166"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826972293",
      "coordinates": [
        {
          "allele": "T",
          "end": 890,
          "referenceAllele": "C",
          "start": 889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NM_001317923.2:c.694C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001304852.1:p.Arg232Trp",
        "hgvsWellDefined": "NP_001304852.1:p.Arg232Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717463"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916044486",
      "coordinates": [
        {
          "allele": "T",
          "end": 945,
          "referenceAllele": "C",
          "start": 944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NM_001363840.3:c.886C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350769.1:p.Arg296Trp",
        "hgvsWellDefined": "NP_001350769.1:p.Arg296Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720801"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 945,
          "referenceAllele": "C",
          "start": 944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NR_134256.2:n.945C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730851"
    }
  ],
  "type": "nucleotide"
}