{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10247981",
  "communityStandardTitle": [
    "NM_000026.4(ADSL):c.1342T>C (p.Ser448Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=237095[alleleid]",
        "alleleId": 237095,
        "preferredName": "NM_000026.4(ADSL):c.1342T>C (p.Ser448Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/235410",
        "RCV": [
          "RCV000224729",
          "RCV000526230",
          "RCV002516223"
        ],
        "variationId": 235410
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/22-40761034-T-C",
        "id": "22-40761034-T-C",
        "variant": "22:40761034 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.40761034T>C?assembly=hg19",
        "id": "chr22:g.40761034T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.40365030T>C?assembly=hg38",
        "id": "chr22:g.40365030T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/771121666",
        "rs": 771121666
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-40761034-T-C?dataset=gnomad_r2_1",
        "id": "22-40761034-T-C",
        "variant": "22:40761034 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-40365030-T-C?dataset=gnomad_r3",
        "id": "22-40365030-T-C",
        "variant": "22:40365030 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-40365030-T-C?dataset=gnomad_r4",
        "id": "22-40365030-T-C",
        "variant": "22:40365030 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "C",
          "end": 40365030,
          "referenceAllele": "T",
          "start": 40365029
        }
      ],
      "hgvs": [
        "NC_000022.11:g.40365030T>C",
        "CM000684.2:g.40365030T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "C",
          "end": 40761034,
          "referenceAllele": "T",
          "start": 40761033
        }
      ],
      "hgvs": [
        "NC_000022.10:g.40761034T>C",
        "CM000684.1:g.40761034T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "C",
          "end": 39090980,
          "referenceAllele": "T",
          "start": 39090979
        }
      ],
      "hgvs": [
        "NC_000022.9:g.39090980T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 23531,
          "referenceAllele": "T",
          "start": 23530
        }
      ],
      "hgvs": [
        "NG_007993.1:g.23531T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000760"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 23531,
          "referenceAllele": "T",
          "start": 23530
        }
      ],
      "hgvs": [
        "NG_007993.2:g.23531T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616087"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1603,
          "referenceAllele": "T",
          "start": 1602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000480775.3:c.*736T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485462.2:n.*736T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757347"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1246,
          "referenceAllele": "T",
          "start": 1245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000623287.4:c.*767T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485437.1:n.*767T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762400"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1131,
          "referenceAllele": "T",
          "start": 1130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000623632.4:c.1033T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485288.2:p.Ser345Pro",
        "hgvsWellDefined": "ENSP00000485288.2:p.Ser345Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762411"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1443,
          "referenceAllele": "T",
          "start": 1442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000625194.4:c.1384T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485289.2:p.Ser462Pro",
        "hgvsWellDefined": "ENSP00000485289.2:p.Ser462Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762458"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1364,
          "referenceAllele": "T",
          "start": 1363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000636433.1:n.1364T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763110"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1387,
          "referenceAllele": "T",
          "start": 1386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000636714.1:c.1342T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490946.1:p.Ser448Pro",
        "hgvsWellDefined": "ENSP00000490946.1:p.Ser448Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763329"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1250,
          "endIntronDirection": "+",
          "endIntronOffset": 665,
          "referenceAllele": "T",
          "start": 1250,
          "startIntronDirection": "+",
          "startIntronOffset": 664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000637666.2:c.1191+665T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489696.2:n.1191+665T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764026"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1377,
          "referenceAllele": "T",
          "start": 1376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000637669.1:c.1342T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489728.1:p.Ser448Pro",
        "hgvsWellDefined": "ENSP00000489728.1:p.Ser448Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764029"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1497,
          "referenceAllele": "T",
          "start": 1496
        }
      ],
      "hgvs": [
        "ENST00000639722.1:c.*1038T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492828.1:n.*1038T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765151"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2856,
          "referenceAllele": "T",
          "start": 2855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000674592.1:n.2856T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774537"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4409,
          "referenceAllele": "T",
          "start": 4408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000675622.1:n.4409T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775415"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1431,
          "referenceAllele": "T",
          "start": 1430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000679609.1:c.*952T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506592.1:n.*952T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779237"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2027,
          "referenceAllele": "T",
          "start": 2026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000679656.1:n.2027T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779283"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1356,
          "referenceAllele": "T",
          "start": 1355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000679723.1:c.1297T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505155.1:p.Ser433Pro",
        "hgvsWellDefined": "ENSP00000505155.1:p.Ser433Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779350"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1650,
          "referenceAllele": "T",
          "start": 1649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000679845.1:n.1650T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779467"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1738,
          "referenceAllele": "T",
          "start": 1737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000679904.1:n.1738T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779526"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1433,
          "referenceAllele": "T",
          "start": 1432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000680378.1:c.1429T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505556.1:p.Ser477Pro",
        "hgvsWellDefined": "ENSP00000505556.1:p.Ser477Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779996"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1572,
          "referenceAllele": "T",
          "start": 1571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000680444.1:c.*705T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505298.1:n.*705T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780061"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1401,
          "referenceAllele": "T",
          "start": 1400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000680978.1:c.1342T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505244.1:p.Ser448Pro",
        "hgvsWellDefined": "ENSP00000505244.1:p.Ser448Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780592"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 805,
          "referenceAllele": "T",
          "start": 804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000681003.1:n.805T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780617"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2746,
          "referenceAllele": "T",
          "start": 2745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000681159.1:n.2746T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780771"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1415,
          "referenceAllele": "T",
          "start": 1414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000216194.11:c.1384T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000216194.8:p.Ser462Pro",
        "hgvsWellDefined": "ENSP00000216194.8:p.Ser462Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247967"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1247,
          "endIntronDirection": "+",
          "endIntronOffset": 665,
          "referenceAllele": "T",
          "start": 1247,
          "startIntronDirection": "+",
          "startIntronOffset": 664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000342312.9:c.1191+665T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341429.6:n.1191+665T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261527"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 69,
          "referenceAllele": "T",
          "start": 68
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000423176.6:c.69T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS287631"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1401,
          "referenceAllele": "T",
          "start": 1400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000623063.3:c.1342T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485525.1:p.Ser448Pro",
        "hgvsWellDefined": "ENSP00000485525.1:p.Ser448Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405987",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000623063.3:c.1342T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000026.4:c.1342T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000485525.1:p.Ser448Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000017.1:p.Ser448Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 473,
          "referenceAllele": "T",
          "start": 472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000623387.1:n.473T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS406063"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 73,
          "referenceAllele": "T",
          "start": 72
        }
      ],
      "hgvs": [
        "ENST00000623869.3:c.73T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485211.1:p.Ser25Pro",
        "hgvsWellDefined": "ENSP00000485211.1:p.Ser25Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406187"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 69,
          "referenceAllele": "T",
          "start": 68
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000624027.1:c.69T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS406230"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 971,
          "referenceAllele": "T",
          "start": 970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000625194.3:c.971T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS406535"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645431098",
      "coordinates": [
        {
          "allele": "C",
          "end": 1401,
          "referenceAllele": "T",
          "start": 1400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NM_000026.2:c.1342T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000017.1:p.Ser448Pro",
        "hgvsWellDefined": "NP_000017.1:p.Ser448Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006091"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1250,
          "endIntronDirection": "+",
          "endIntronOffset": 665,
          "referenceAllele": "T",
          "start": 1250,
          "startIntronDirection": "+",
          "startIntronOffset": 664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NM_001123378.1:c.1191+665T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001116850.1:n.1191+665T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011454"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1401,
          "referenceAllele": "T",
          "start": 1400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_011529976.1:c.1342T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528278.1:p.Ser448Pro",
        "hgvsWellDefined": "XP_011528278.1:p.Ser448Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097035"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1401,
          "referenceAllele": "T",
          "start": 1400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_011529977.1:c.1342T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528279.1:p.Ser448Pro",
        "hgvsWellDefined": "XP_011528279.1:p.Ser448Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097036"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1250,
          "endIntronDirection": "+",
          "endIntronOffset": 665,
          "referenceAllele": "T",
          "start": 1250,
          "startIntronDirection": "+",
          "startIntronOffset": 664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_011529978.1:c.1191+665T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528280.1:n.1191+665T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097037"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1401,
          "referenceAllele": "T",
          "start": 1400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_011529979.1:c.1342T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528281.1:p.Ser448Pro",
        "hgvsWellDefined": "XP_011528281.1:p.Ser448Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097038"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1250,
          "endIntronDirection": "+",
          "endIntronOffset": 665,
          "referenceAllele": "T",
          "start": 1250,
          "startIntronDirection": "+",
          "startIntronOffset": 664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_011529980.1:c.1191+665T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528282.1:n.1191+665T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097039"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1258,
          "referenceAllele": "T",
          "start": 1257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_011529981.1:c.877T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528283.1:p.Ser293Pro",
        "hgvsWellDefined": "XP_011528283.1:p.Ser293Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097040"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 941,
          "referenceAllele": "T",
          "start": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_011529982.1:c.511T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528284.1:p.Ser171Pro",
        "hgvsWellDefined": "XP_011528284.1:p.Ser171Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097041"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1432,
          "referenceAllele": "T",
          "start": 1431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XR_937824.1:n.1432T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS132626"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1281,
          "endIntronDirection": "+",
          "endIntronOffset": 665,
          "referenceAllele": "T",
          "start": 1281,
          "startIntronDirection": "+",
          "startIntronOffset": 664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XR_937825.1:n.1281+665T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS132627"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645431098",
      "coordinates": [
        {
          "allele": "C",
          "end": 1401,
          "referenceAllele": "T",
          "start": 1400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NM_000026.3:c.1342T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000017.1:p.Ser448Pro",
        "hgvsWellDefined": "NP_000017.1:p.Ser448Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510737"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1250,
          "endIntronDirection": "+",
          "endIntronOffset": 665,
          "referenceAllele": "T",
          "start": 1250,
          "startIntronDirection": "+",
          "startIntronOffset": 664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NM_001123378.2:c.1191+665T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001116850.1:n.1191+665T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511387"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826972404",
      "coordinates": [
        {
          "allele": "C",
          "end": 1346,
          "referenceAllele": "T",
          "start": 1345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NM_001317923.1:c.1150T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001304852.1:p.Ser384Pro",
        "hgvsWellDefined": "NP_001304852.1:p.Ser384Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512598"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916044530",
      "coordinates": [
        {
          "allele": "C",
          "end": 1401,
          "referenceAllele": "T",
          "start": 1400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NM_001363840.1:c.1342T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350769.1:p.Ser448Pro",
        "hgvsWellDefined": "NP_001350769.1:p.Ser448Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523595"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1432,
          "referenceAllele": "T",
          "start": 1431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NR_134256.1:n.1432T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS527496"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1399,
          "referenceAllele": "T",
          "start": 1398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_011529977.3:c.1342T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528279.1:p.Ser448Pro",
        "hgvsWellDefined": "XP_011528279.1:p.Ser448Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549749"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1248,
          "endIntronDirection": "+",
          "endIntronOffset": 665,
          "referenceAllele": "T",
          "start": 1248,
          "startIntronDirection": "+",
          "startIntronOffset": 664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_011529980.3:c.1191+665T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528282.1:n.1191+665T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549750"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1338,
          "referenceAllele": "T",
          "start": 1337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_017028636.1:c.1297T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884125.1:p.Ser433Pro",
        "hgvsWellDefined": "XP_016884125.1:p.Ser433Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578329"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1321,
          "referenceAllele": "T",
          "start": 1320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_017028637.1:c.1297T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884126.1:p.Ser433Pro",
        "hgvsWellDefined": "XP_016884126.1:p.Ser433Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578330"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1258,
          "referenceAllele": "T",
          "start": 1257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_017028638.1:c.877T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884127.1:p.Ser293Pro",
        "hgvsWellDefined": "XP_016884127.1:p.Ser293Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578331"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1242,
          "referenceAllele": "T",
          "start": 1241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_017028639.2:c.877T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884128.1:p.Ser293Pro",
        "hgvsWellDefined": "XP_016884128.1:p.Ser293Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578332"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 941,
          "referenceAllele": "T",
          "start": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_017028640.1:c.511T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884129.1:p.Ser171Pro",
        "hgvsWellDefined": "XP_016884129.1:p.Ser171Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578333"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1187,
          "endIntronDirection": "+",
          "endIntronOffset": 665,
          "referenceAllele": "T",
          "start": 1187,
          "startIntronDirection": "+",
          "startIntronOffset": 664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_024452166.1:c.1146+665T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307934.1:n.1146+665T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585664"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1584,
          "referenceAllele": "T",
          "start": 1583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XR_001755176.2:n.1584T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS601039"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1369,
          "referenceAllele": "T",
          "start": 1368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XR_002958670.1:n.1369T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604795"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1279,
          "endIntronDirection": "+",
          "endIntronOffset": 665,
          "referenceAllele": "T",
          "start": 1279,
          "startIntronDirection": "+",
          "startIntronOffset": 664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XR_937825.3:n.1279+665T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS611738"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645431098",
      "coordinates": [
        {
          "allele": "C",
          "end": 1401,
          "referenceAllele": "T",
          "start": 1400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NM_000026.4:c.1342T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000017.1:p.Ser448Pro",
        "hgvsWellDefined": "NP_000017.1:p.Ser448Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662289",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000623063.3:c.1342T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000026.4:c.1342T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000485525.1:p.Ser448Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000017.1:p.Ser448Pro"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916044530",
      "coordinates": [
        {
          "allele": "C",
          "end": 1401,
          "referenceAllele": "T",
          "start": 1400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NM_001363840.2:c.1342T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350769.1:p.Ser448Pro",
        "hgvsWellDefined": "NP_001350769.1:p.Ser448Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690783"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1250,
          "endIntronDirection": "+",
          "endIntronOffset": 665,
          "referenceAllele": "T",
          "start": 1250,
          "startIntronDirection": "+",
          "startIntronOffset": 664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NM_001123378.3:c.1191+665T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001116850.1:n.1191+665T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712166"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826972404",
      "coordinates": [
        {
          "allele": "C",
          "end": 1346,
          "referenceAllele": "T",
          "start": 1345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NM_001317923.2:c.1150T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001304852.1:p.Ser384Pro",
        "hgvsWellDefined": "NP_001304852.1:p.Ser384Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717463"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916044530",
      "coordinates": [
        {
          "allele": "C",
          "end": 1401,
          "referenceAllele": "T",
          "start": 1400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NM_001363840.3:c.1342T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350769.1:p.Ser448Pro",
        "hgvsWellDefined": "NP_001350769.1:p.Ser448Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720801"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1432,
          "referenceAllele": "T",
          "start": 1431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NR_134256.2:n.1432T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730851"
    }
  ],
  "type": "nucleotide"
}