{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10247905",
  "communityStandardTitle": [
    "NM_000026.4(ADSL):c.1090G>A (p.Val364Met)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1034437",
        "active": true,
        "id": "COSM1034437"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1034438",
        "active": true,
        "id": "COSM1034438"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1410840[alleleid]",
        "alleleId": 1410840,
        "preferredName": "NM_000026.4(ADSL):c.1090G>A (p.Val364Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1474309",
        "RCV": [
          "RCV001971171"
        ],
        "variationId": 1474309
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/22-40759064-G-A",
        "id": "22-40759064-G-A",
        "variant": "22:40759064 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.40759064G>A?assembly=hg19",
        "id": "chr22:g.40759064G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.40363060G>A?assembly=hg38",
        "id": "chr22:g.40363060G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/370851726",
        "rs": 370851726
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-40759064-G-A?dataset=gnomad_r2_1",
        "id": "22-40759064-G-A",
        "variant": "22:40759064 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-40363060-G-A?dataset=gnomad_r3",
        "id": "22-40363060-G-A",
        "variant": "22:40363060 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-40363060-G-A?dataset=gnomad_r4",
        "id": "22-40363060-G-A",
        "variant": "22:40363060 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 40363060,
          "referenceAllele": "G",
          "start": 40363059
        }
      ],
      "hgvs": [
        "NC_000022.11:g.40363060G>A",
        "CM000684.2:g.40363060G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 40759064,
          "referenceAllele": "G",
          "start": 40759063
        }
      ],
      "hgvs": [
        "NC_000022.10:g.40759064G>A",
        "CM000684.1:g.40759064G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 39089010,
          "referenceAllele": "G",
          "start": 39089009
        }
      ],
      "hgvs": [
        "NC_000022.9:g.39089010G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 21561,
          "referenceAllele": "G",
          "start": 21560
        }
      ],
      "hgvs": [
        "NG_007993.1:g.21561G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000760"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 21561,
          "referenceAllele": "G",
          "start": 21560
        }
      ],
      "hgvs": [
        "NG_007993.2:g.21561G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616087"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1351,
          "referenceAllele": "G",
          "start": 1350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000480775.3:c.*484G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485462.2:n.*484G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757347"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 994,
          "referenceAllele": "G",
          "start": 993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000623287.4:c.*515G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485437.1:n.*515G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762400"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 890,
          "endIntronDirection": "-",
          "endIntronOffset": 1215,
          "referenceAllele": "G",
          "start": 890,
          "startIntronDirection": "-",
          "startIntronOffset": 1216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000623632.4:c.793-1216G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485288.2:n.793-1216G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762411"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1191,
          "referenceAllele": "G",
          "start": 1190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000625194.4:c.1132G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485289.2:p.Val378Met",
        "hgvsWellDefined": "ENSP00000485289.2:p.Val378Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762458"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1120,
          "referenceAllele": "G",
          "start": 1119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000636265.1:c.1090G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490909.1:p.Val364Met",
        "hgvsWellDefined": "ENSP00000490909.1:p.Val364Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762996"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1112,
          "referenceAllele": "G",
          "start": 1111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000636433.1:n.1112G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763110"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1135,
          "referenceAllele": "G",
          "start": 1134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000636714.1:c.1090G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490946.1:p.Val364Met",
        "hgvsWellDefined": "ENSP00000490946.1:p.Val364Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763329"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1149,
          "referenceAllele": "G",
          "start": 1148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000637666.2:c.1090G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489696.2:p.Val364Met",
        "hgvsWellDefined": "ENSP00000489696.2:p.Val364Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764026"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1125,
          "referenceAllele": "G",
          "start": 1124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000637669.1:c.1090G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489728.1:p.Val364Met",
        "hgvsWellDefined": "ENSP00000489728.1:p.Val364Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764029"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1245,
          "referenceAllele": "G",
          "start": 1244
        }
      ],
      "hgvs": [
        "ENST00000639722.1:c.*786G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492828.1:n.*786G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765151"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2604,
          "referenceAllele": "G",
          "start": 2603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000674592.1:n.2604G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774537"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4157,
          "referenceAllele": "G",
          "start": 4156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000675622.1:n.4157G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775415"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1179,
          "referenceAllele": "G",
          "start": 1178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000679609.1:c.*700G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506592.1:n.*700G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779237"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1775,
          "referenceAllele": "G",
          "start": 1774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000679656.1:n.1775G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779283"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1104,
          "referenceAllele": "G",
          "start": 1103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000679723.1:c.1045G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505155.1:p.Val349Met",
        "hgvsWellDefined": "ENSP00000505155.1:p.Val349Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779350"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1398,
          "referenceAllele": "G",
          "start": 1397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000679845.1:n.1398G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779467"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1486,
          "referenceAllele": "G",
          "start": 1485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000679904.1:n.1486G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779526"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1181,
          "referenceAllele": "G",
          "start": 1180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000680378.1:c.1177G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505556.1:p.Val393Met",
        "hgvsWellDefined": "ENSP00000505556.1:p.Val393Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779996"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1320,
          "referenceAllele": "G",
          "start": 1319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000680444.1:c.*453G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505298.1:n.*453G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780061"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1149,
          "referenceAllele": "G",
          "start": 1148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000680978.1:c.1090G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505244.1:p.Val364Met",
        "hgvsWellDefined": "ENSP00000505244.1:p.Val364Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780592"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 553,
          "referenceAllele": "G",
          "start": 552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000681003.1:n.553G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780617"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2494,
          "referenceAllele": "G",
          "start": 2493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000681159.1:n.2494G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780771"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1163,
          "referenceAllele": "G",
          "start": 1162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000216194.11:c.1132G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000216194.8:p.Val378Met",
        "hgvsWellDefined": "ENSP00000216194.8:p.Val378Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247967"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1146,
          "referenceAllele": "G",
          "start": 1145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000342312.9:c.1090G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341429.6:p.Val364Met",
        "hgvsWellDefined": "ENSP00000341429.6:p.Val364Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261527"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1149,
          "referenceAllele": "G",
          "start": 1148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000623063.3:c.1090G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485525.1:p.Val364Met",
        "hgvsWellDefined": "ENSP00000485525.1:p.Val364Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405987",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000623063.3:c.1090G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000026.4:c.1090G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000485525.1:p.Val364Met"
          },
          "RefSeq": {
            "hgvs": "NP_000017.1:p.Val364Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 719,
          "referenceAllele": "G",
          "start": 718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000625194.3:c.719G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS406535"
    },
    {
      "@id": "http://reg.genome.network/allele/PA091284",
      "coordinates": [
        {
          "allele": "A",
          "end": 1149,
          "referenceAllele": "G",
          "start": 1148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NM_000026.2:c.1090G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000017.1:p.Val364Met",
        "hgvsWellDefined": "NP_000017.1:p.Val364Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006091"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825590081",
      "coordinates": [
        {
          "allele": "A",
          "end": 1149,
          "referenceAllele": "G",
          "start": 1148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NM_001123378.1:c.1090G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001116850.1:p.Val364Met",
        "hgvsWellDefined": "NP_001116850.1:p.Val364Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011454"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1149,
          "referenceAllele": "G",
          "start": 1148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_011529976.1:c.1090G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528278.1:p.Val364Met",
        "hgvsWellDefined": "XP_011528278.1:p.Val364Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097035"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1149,
          "referenceAllele": "G",
          "start": 1148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_011529977.1:c.1090G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528279.1:p.Val364Met",
        "hgvsWellDefined": "XP_011528279.1:p.Val364Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097036"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1149,
          "referenceAllele": "G",
          "start": 1148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_011529978.1:c.1090G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528280.1:p.Val364Met",
        "hgvsWellDefined": "XP_011528280.1:p.Val364Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097037"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1149,
          "referenceAllele": "G",
          "start": 1148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_011529979.1:c.1090G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528281.1:p.Val364Met",
        "hgvsWellDefined": "XP_011528281.1:p.Val364Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097038"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1149,
          "referenceAllele": "G",
          "start": 1148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_011529980.1:c.1090G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528282.1:p.Val364Met",
        "hgvsWellDefined": "XP_011528282.1:p.Val364Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097039"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1006,
          "referenceAllele": "G",
          "start": 1005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_011529981.1:c.625G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528283.1:p.Val209Met",
        "hgvsWellDefined": "XP_011528283.1:p.Val209Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097040"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 689,
          "referenceAllele": "G",
          "start": 688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_011529982.1:c.259G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528284.1:p.Val87Met",
        "hgvsWellDefined": "XP_011528284.1:p.Val87Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097041"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1180,
          "referenceAllele": "G",
          "start": 1179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XR_937824.1:n.1180G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS132626"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1180,
          "referenceAllele": "G",
          "start": 1179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XR_937825.1:n.1180G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS132627"
    },
    {
      "@id": "http://reg.genome.network/allele/PA091284",
      "coordinates": [
        {
          "allele": "A",
          "end": 1149,
          "referenceAllele": "G",
          "start": 1148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NM_000026.3:c.1090G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000017.1:p.Val364Met",
        "hgvsWellDefined": "NP_000017.1:p.Val364Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510737"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825590081",
      "coordinates": [
        {
          "allele": "A",
          "end": 1149,
          "referenceAllele": "G",
          "start": 1148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NM_001123378.2:c.1090G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001116850.1:p.Val364Met",
        "hgvsWellDefined": "NP_001116850.1:p.Val364Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511387"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826972345",
      "coordinates": [
        {
          "allele": "A",
          "end": 1094,
          "referenceAllele": "G",
          "start": 1093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NM_001317923.1:c.898G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001304852.1:p.Val300Met",
        "hgvsWellDefined": "NP_001304852.1:p.Val300Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512598"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573209053",
      "coordinates": [
        {
          "allele": "A",
          "end": 1149,
          "referenceAllele": "G",
          "start": 1148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NM_001363840.1:c.1090G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350769.1:p.Val364Met",
        "hgvsWellDefined": "NP_001350769.1:p.Val364Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523595"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1180,
          "referenceAllele": "G",
          "start": 1179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NR_134256.1:n.1180G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS527496"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1147,
          "referenceAllele": "G",
          "start": 1146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_011529977.3:c.1090G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528279.1:p.Val364Met",
        "hgvsWellDefined": "XP_011528279.1:p.Val364Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549749"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1147,
          "referenceAllele": "G",
          "start": 1146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_011529980.3:c.1090G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528282.1:p.Val364Met",
        "hgvsWellDefined": "XP_011528282.1:p.Val364Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549750"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1086,
          "referenceAllele": "G",
          "start": 1085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_017028636.1:c.1045G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884125.1:p.Val349Met",
        "hgvsWellDefined": "XP_016884125.1:p.Val349Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578329"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1069,
          "referenceAllele": "G",
          "start": 1068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_017028637.1:c.1045G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884126.1:p.Val349Met",
        "hgvsWellDefined": "XP_016884126.1:p.Val349Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578330"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1006,
          "referenceAllele": "G",
          "start": 1005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_017028638.1:c.625G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884127.1:p.Val209Met",
        "hgvsWellDefined": "XP_016884127.1:p.Val209Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578331"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 990,
          "referenceAllele": "G",
          "start": 989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_017028639.2:c.625G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884128.1:p.Val209Met",
        "hgvsWellDefined": "XP_016884128.1:p.Val209Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578332"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 689,
          "referenceAllele": "G",
          "start": 688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_017028640.1:c.259G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884129.1:p.Val87Met",
        "hgvsWellDefined": "XP_016884129.1:p.Val87Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578333"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1086,
          "referenceAllele": "G",
          "start": 1085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_024452166.1:c.1045G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307934.1:p.Val349Met",
        "hgvsWellDefined": "XP_024307934.1:p.Val349Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585664"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1332,
          "referenceAllele": "G",
          "start": 1331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XR_001755176.2:n.1332G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS601039"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1117,
          "referenceAllele": "G",
          "start": 1116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XR_002958670.1:n.1117G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604795"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1363,
          "referenceAllele": "G",
          "start": 1362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XR_002958671.1:n.1363G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604796"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1178,
          "referenceAllele": "G",
          "start": 1177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XR_937825.3:n.1178G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS611738"
    },
    {
      "@id": "http://reg.genome.network/allele/PA091284",
      "coordinates": [
        {
          "allele": "A",
          "end": 1149,
          "referenceAllele": "G",
          "start": 1148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NM_000026.4:c.1090G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000017.1:p.Val364Met",
        "hgvsWellDefined": "NP_000017.1:p.Val364Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662289",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000623063.3:c.1090G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000026.4:c.1090G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000485525.1:p.Val364Met"
          },
          "RefSeq": {
            "hgvs": "NP_000017.1:p.Val364Met"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573209053",
      "coordinates": [
        {
          "allele": "A",
          "end": 1149,
          "referenceAllele": "G",
          "start": 1148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NM_001363840.2:c.1090G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350769.1:p.Val364Met",
        "hgvsWellDefined": "NP_001350769.1:p.Val364Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690783"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825590081",
      "coordinates": [
        {
          "allele": "A",
          "end": 1149,
          "referenceAllele": "G",
          "start": 1148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NM_001123378.3:c.1090G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001116850.1:p.Val364Met",
        "hgvsWellDefined": "NP_001116850.1:p.Val364Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712166"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826972345",
      "coordinates": [
        {
          "allele": "A",
          "end": 1094,
          "referenceAllele": "G",
          "start": 1093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NM_001317923.2:c.898G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001304852.1:p.Val300Met",
        "hgvsWellDefined": "NP_001304852.1:p.Val300Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717463"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573209053",
      "coordinates": [
        {
          "allele": "A",
          "end": 1149,
          "referenceAllele": "G",
          "start": 1148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NM_001363840.3:c.1090G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350769.1:p.Val364Met",
        "hgvsWellDefined": "NP_001350769.1:p.Val364Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720801"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1180,
          "referenceAllele": "G",
          "start": 1179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NR_134256.2:n.1180G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730851"
    }
  ],
  "type": "nucleotide"
}