{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10247835",
  "communityStandardTitle": [
    "NM_000026.4(ADSL):c.802G>A (p.Asp268Asn)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1065043[alleleid]",
        "alleleId": 1065043,
        "preferredName": "NM_000026.4(ADSL):c.802G>A (p.Asp268Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1070511",
        "RCV": [
          "RCV001382689"
        ],
        "variationId": 1070511
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/22-40757286-G-A",
        "id": "22-40757286-G-A",
        "variant": "22:40757286 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.40757286G>A?assembly=hg19",
        "id": "chr22:g.40757286G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.40361282G>A?assembly=hg38",
        "id": "chr22:g.40361282G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/746501563",
        "rs": 746501563
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-40757286-G-A?dataset=gnomad_r2_1",
        "id": "22-40757286-G-A",
        "variant": "22:40757286 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-40361282-G-A?dataset=gnomad_r3",
        "id": "22-40361282-G-A",
        "variant": "22:40361282 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-40361282-G-A?dataset=gnomad_r4",
        "id": "22-40361282-G-A",
        "variant": "22:40361282 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 40361282,
          "referenceAllele": "G",
          "start": 40361281
        }
      ],
      "hgvs": [
        "NC_000022.11:g.40361282G>A",
        "CM000684.2:g.40361282G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 40757286,
          "referenceAllele": "G",
          "start": 40757285
        }
      ],
      "hgvs": [
        "NC_000022.10:g.40757286G>A",
        "CM000684.1:g.40757286G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 39087232,
          "referenceAllele": "G",
          "start": 39087231
        }
      ],
      "hgvs": [
        "NC_000022.9:g.39087232G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 19783,
          "referenceAllele": "G",
          "start": 19782
        }
      ],
      "hgvs": [
        "NG_007993.1:g.19783G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000760"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 19783,
          "referenceAllele": "G",
          "start": 19782
        }
      ],
      "hgvs": [
        "NG_007993.2:g.19783G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616087"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1032,
          "referenceAllele": "G",
          "start": 1031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000480775.3:c.*165G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485462.2:n.*165G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757347"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 706,
          "referenceAllele": "G",
          "start": 705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000623287.4:c.*227G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485437.1:n.*227G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762400"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 890,
          "endIntronDirection": "+",
          "endIntronOffset": 790,
          "referenceAllele": "G",
          "start": 890,
          "startIntronDirection": "+",
          "startIntronOffset": 789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000623632.4:c.792+790G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485288.2:n.792+790G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762411"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 861,
          "referenceAllele": "G",
          "start": 860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000625194.4:c.802G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485289.2:p.Asp268Asn",
        "hgvsWellDefined": "ENSP00000485289.2:p.Asp268Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762458"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 832,
          "referenceAllele": "G",
          "start": 831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000636265.1:c.802G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490909.1:p.Asp268Asn",
        "hgvsWellDefined": "ENSP00000490909.1:p.Asp268Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762996"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 824,
          "referenceAllele": "G",
          "start": 823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000636433.1:n.824G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763110"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 847,
          "referenceAllele": "G",
          "start": 846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000636714.1:c.802G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490946.1:p.Asp268Asn",
        "hgvsWellDefined": "ENSP00000490946.1:p.Asp268Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763329"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 861,
          "referenceAllele": "G",
          "start": 860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000637666.2:c.802G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489696.2:p.Asp268Asn",
        "hgvsWellDefined": "ENSP00000489696.2:p.Asp268Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764026"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 837,
          "referenceAllele": "G",
          "start": 836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000637669.1:c.802G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489728.1:p.Asp268Asn",
        "hgvsWellDefined": "ENSP00000489728.1:p.Asp268Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764029"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 957,
          "referenceAllele": "G",
          "start": 956
        }
      ],
      "hgvs": [
        "ENST00000639722.1:c.*498G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492828.1:n.*498G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765151"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 826,
          "referenceAllele": "G",
          "start": 825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000674592.1:n.826G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774537"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3869,
          "referenceAllele": "G",
          "start": 3868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000675622.1:n.3869G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775415"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 891,
          "referenceAllele": "G",
          "start": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000679609.1:c.*412G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506592.1:n.*412G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779237"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1487,
          "referenceAllele": "G",
          "start": 1486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000679656.1:n.1487G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779283"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 816,
          "referenceAllele": "G",
          "start": 815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000679723.1:c.757G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505155.1:p.Asp253Asn",
        "hgvsWellDefined": "ENSP00000505155.1:p.Asp253Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779350"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1110,
          "referenceAllele": "G",
          "start": 1109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000679845.1:n.1110G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779467"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1198,
          "referenceAllele": "G",
          "start": 1197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000679904.1:n.1198G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779526"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 893,
          "referenceAllele": "G",
          "start": 892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000680378.1:c.889G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505556.1:p.Asp297Asn",
        "hgvsWellDefined": "ENSP00000505556.1:p.Asp297Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779996"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1032,
          "referenceAllele": "G",
          "start": 1031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000680444.1:c.*165G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505298.1:n.*165G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780061"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 861,
          "referenceAllele": "G",
          "start": 860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000680978.1:c.802G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505244.1:p.Asp268Asn",
        "hgvsWellDefined": "ENSP00000505244.1:p.Asp268Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780592"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 234,
          "referenceAllele": "G",
          "start": 233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000681003.1:n.234G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780617"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 861,
          "referenceAllele": "G",
          "start": 860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000681159.1:n.861G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780771"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 875,
          "referenceAllele": "G",
          "start": 874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000216194.11:c.844G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000216194.8:p.Asp282Asn",
        "hgvsWellDefined": "ENSP00000216194.8:p.Asp282Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247967"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 858,
          "referenceAllele": "G",
          "start": 857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000342312.9:c.802G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341429.6:p.Asp268Asn",
        "hgvsWellDefined": "ENSP00000341429.6:p.Asp268Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261527"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 401,
          "referenceAllele": "G",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000480775.2:c.401G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS320844"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 861,
          "referenceAllele": "G",
          "start": 860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000623063.3:c.802G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485525.1:p.Asp268Asn",
        "hgvsWellDefined": "ENSP00000485525.1:p.Asp268Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405987",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000623063.3:c.802G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000026.4:c.802G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000485525.1:p.Asp268Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000017.1:p.Asp268Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 706,
          "referenceAllele": "G",
          "start": 705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000623287.3:c.*227G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485437.1:n.*227G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406041"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 816,
          "referenceAllele": "G",
          "start": 815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000623632.3:c.757G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485288.1:p.Asp253Asn",
        "hgvsWellDefined": "ENSP00000485288.1:p.Asp253Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406133"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 573,
          "referenceAllele": "G",
          "start": 572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000623978.3:c.262G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485477.1:p.Asp88Asn",
        "hgvsWellDefined": "ENSP00000485477.1:p.Asp88Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406222"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 389,
          "referenceAllele": "G",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000625194.3:c.389G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS406535"
    },
    {
      "@id": "http://reg.genome.network/allele/PA091269",
      "coordinates": [
        {
          "allele": "A",
          "end": 861,
          "referenceAllele": "G",
          "start": 860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NM_000026.2:c.802G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000017.1:p.Asp268Asn",
        "hgvsWellDefined": "NP_000017.1:p.Asp268Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006091"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825589948",
      "coordinates": [
        {
          "allele": "A",
          "end": 861,
          "referenceAllele": "G",
          "start": 860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NM_001123378.1:c.802G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001116850.1:p.Asp268Asn",
        "hgvsWellDefined": "NP_001116850.1:p.Asp268Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011454"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 861,
          "referenceAllele": "G",
          "start": 860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_011529976.1:c.802G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528278.1:p.Asp268Asn",
        "hgvsWellDefined": "XP_011528278.1:p.Asp268Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097035"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 861,
          "referenceAllele": "G",
          "start": 860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_011529977.1:c.802G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528279.1:p.Asp268Asn",
        "hgvsWellDefined": "XP_011528279.1:p.Asp268Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097036"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 861,
          "referenceAllele": "G",
          "start": 860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_011529978.1:c.802G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528280.1:p.Asp268Asn",
        "hgvsWellDefined": "XP_011528280.1:p.Asp268Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097037"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 861,
          "referenceAllele": "G",
          "start": 860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_011529979.1:c.802G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528281.1:p.Asp268Asn",
        "hgvsWellDefined": "XP_011528281.1:p.Asp268Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097038"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 861,
          "referenceAllele": "G",
          "start": 860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_011529980.1:c.802G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528282.1:p.Asp268Asn",
        "hgvsWellDefined": "XP_011528282.1:p.Asp268Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097039"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 718,
          "referenceAllele": "G",
          "start": 717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_011529981.1:c.337G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528283.1:p.Asp113Asn",
        "hgvsWellDefined": "XP_011528283.1:p.Asp113Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097040"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 401,
          "referenceAllele": "G",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_011529982.1:c.-30G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528284.1:n.-30G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097041"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 861,
          "referenceAllele": "G",
          "start": 860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XR_937824.1:n.861G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS132626"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 861,
          "referenceAllele": "G",
          "start": 860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XR_937825.1:n.861G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS132627"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1046,
          "referenceAllele": "G",
          "start": 1045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XR_937826.1:n.1046G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS132628"
    },
    {
      "@id": "http://reg.genome.network/allele/PA091269",
      "coordinates": [
        {
          "allele": "A",
          "end": 861,
          "referenceAllele": "G",
          "start": 860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NM_000026.3:c.802G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000017.1:p.Asp268Asn",
        "hgvsWellDefined": "NP_000017.1:p.Asp268Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510737"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825589948",
      "coordinates": [
        {
          "allele": "A",
          "end": 861,
          "referenceAllele": "G",
          "start": 860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NM_001123378.2:c.802G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001116850.1:p.Asp268Asn",
        "hgvsWellDefined": "NP_001116850.1:p.Asp268Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511387"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826972262",
      "coordinates": [
        {
          "allele": "A",
          "end": 806,
          "referenceAllele": "G",
          "start": 805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NM_001317923.1:c.610G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001304852.1:p.Asp204Asn",
        "hgvsWellDefined": "NP_001304852.1:p.Asp204Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512598"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499253066",
      "coordinates": [
        {
          "allele": "A",
          "end": 861,
          "referenceAllele": "G",
          "start": 860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NM_001363840.1:c.802G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350769.1:p.Asp268Asn",
        "hgvsWellDefined": "NP_001350769.1:p.Asp268Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523595"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 861,
          "referenceAllele": "G",
          "start": 860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NR_134256.1:n.861G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS527496"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 859,
          "referenceAllele": "G",
          "start": 858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_011529977.3:c.802G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528279.1:p.Asp268Asn",
        "hgvsWellDefined": "XP_011528279.1:p.Asp268Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549749"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 859,
          "referenceAllele": "G",
          "start": 858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_011529980.3:c.802G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528282.1:p.Asp268Asn",
        "hgvsWellDefined": "XP_011528282.1:p.Asp268Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549750"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 798,
          "referenceAllele": "G",
          "start": 797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_017028636.1:c.757G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884125.1:p.Asp253Asn",
        "hgvsWellDefined": "XP_016884125.1:p.Asp253Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578329"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 781,
          "referenceAllele": "G",
          "start": 780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_017028637.1:c.757G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884126.1:p.Asp253Asn",
        "hgvsWellDefined": "XP_016884126.1:p.Asp253Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578330"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 718,
          "referenceAllele": "G",
          "start": 717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_017028638.1:c.337G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884127.1:p.Asp113Asn",
        "hgvsWellDefined": "XP_016884127.1:p.Asp113Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578331"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 702,
          "referenceAllele": "G",
          "start": 701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_017028639.2:c.337G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884128.1:p.Asp113Asn",
        "hgvsWellDefined": "XP_016884128.1:p.Asp113Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578332"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 401,
          "referenceAllele": "G",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_017028640.1:c.-30G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884129.1:n.-30G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578333"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 798,
          "referenceAllele": "G",
          "start": 797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_024452166.1:c.757G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307934.1:p.Asp253Asn",
        "hgvsWellDefined": "XP_024307934.1:p.Asp253Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585664"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1044,
          "referenceAllele": "G",
          "start": 1043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XR_001755176.2:n.1044G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS601039"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 798,
          "referenceAllele": "G",
          "start": 797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XR_002958670.1:n.798G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604795"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1044,
          "referenceAllele": "G",
          "start": 1043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XR_002958671.1:n.1044G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604796"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 859,
          "referenceAllele": "G",
          "start": 858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XR_937825.3:n.859G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS611738"
    },
    {
      "@id": "http://reg.genome.network/allele/PA091269",
      "coordinates": [
        {
          "allele": "A",
          "end": 861,
          "referenceAllele": "G",
          "start": 860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NM_000026.4:c.802G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000017.1:p.Asp268Asn",
        "hgvsWellDefined": "NP_000017.1:p.Asp268Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662289",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000623063.3:c.802G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000026.4:c.802G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000485525.1:p.Asp268Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000017.1:p.Asp268Asn"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499253066",
      "coordinates": [
        {
          "allele": "A",
          "end": 861,
          "referenceAllele": "G",
          "start": 860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NM_001363840.2:c.802G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350769.1:p.Asp268Asn",
        "hgvsWellDefined": "NP_001350769.1:p.Asp268Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690783"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825589948",
      "coordinates": [
        {
          "allele": "A",
          "end": 861,
          "referenceAllele": "G",
          "start": 860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NM_001123378.3:c.802G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001116850.1:p.Asp268Asn",
        "hgvsWellDefined": "NP_001116850.1:p.Asp268Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712166"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826972262",
      "coordinates": [
        {
          "allele": "A",
          "end": 806,
          "referenceAllele": "G",
          "start": 805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NM_001317923.2:c.610G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001304852.1:p.Asp204Asn",
        "hgvsWellDefined": "NP_001304852.1:p.Asp204Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717463"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499253066",
      "coordinates": [
        {
          "allele": "A",
          "end": 861,
          "referenceAllele": "G",
          "start": 860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NM_001363840.3:c.802G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350769.1:p.Asp268Asn",
        "hgvsWellDefined": "NP_001350769.1:p.Asp268Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720801"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 861,
          "referenceAllele": "G",
          "start": 860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NR_134256.2:n.861G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730851"
    }
  ],
  "type": "nucleotide"
}