{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA341097",
  "communityStandardTitle": [
    "NM_000047.3(ARSL):c.1743G>A (p.Trp581Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=26568[alleleid]",
        "alleleId": 26568,
        "preferredName": "NM_000047.3(ARSL):c.1743G>A (p.Trp581Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/11529",
        "RCV": [
          "RCV000012285",
          "RCV000485780",
          "RCV001196991",
          "RCV002512981"
        ],
        "variationId": 11529
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-2852900-C-T",
        "id": "X-2852900-C-T",
        "variant": "X:2852900 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.2852900C>T?assembly=hg19",
        "id": "chrX:g.2852900C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.2934859C>T?assembly=hg38",
        "id": "chrX:g.2934859C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80338714",
        "rs": 80338714
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-2852900-C-T?dataset=gnomad_r2_1",
        "id": "X-2852900-C-T",
        "variant": "X:2852900 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-2934859-C-T?dataset=gnomad_r3",
        "id": "X-2934859-C-T",
        "variant": "X:2934859 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-2934859-C-T?dataset=gnomad_r4",
        "id": "X-2934859-C-T",
        "variant": "X:2934859 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 2934859,
          "referenceAllele": "C",
          "start": 2934858
        }
      ],
      "hgvs": [
        "NC_000023.11:g.2934859C>T",
        "CM000685.2:g.2934859C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 2852900,
          "referenceAllele": "C",
          "start": 2852899
        }
      ],
      "hgvs": [
        "NC_000023.10:g.2852900C>T",
        "CM000685.1:g.2852900C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 2862900,
          "referenceAllele": "C",
          "start": 2862899
        }
      ],
      "hgvs": [
        "NC_000023.9:g.2862900C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 34412,
          "referenceAllele": "G",
          "start": 34411
        }
      ],
      "hgvs": [
        "NG_007091.1:g.34412G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000471"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1916,
          "referenceAllele": "G",
          "start": 1915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000719",
      "geneNCBI_id": 415,
      "geneSymbol": "ARSL",
      "hgvs": [
        "ENST00000540563.6:c.1743G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438198.2:p.Trp581Ter",
        "hgvsWellDefined": "ENSP00000438198.2:p.Trp581_Gln589delinsCysLeuArgGluAspAspProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825910"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2076,
          "referenceAllele": "G",
          "start": 2075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000719",
      "geneNCBI_id": 415,
      "geneSymbol": "ARSL",
      "hgvs": [
        "ENST00000681963.1:c.1818G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507760.1:p.Trp606Ter",
        "hgvsWellDefined": "ENSP00000507760.1:p.Trp606_Gln614delinsCysLeuArgGluAspAspProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826963"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1697,
          "referenceAllele": "G",
          "start": 1696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000719",
      "geneNCBI_id": 415,
      "geneSymbol": "ARSL",
      "hgvs": [
        "ENST00000682184.1:c.1620G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507043.1:p.Trp540Ter",
        "hgvsWellDefined": "ENSP00000507043.1:p.Trp540_Gln548delinsCysLeuArgGluAspAspProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827181"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1267,
          "referenceAllele": "G",
          "start": 1266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000719",
      "geneNCBI_id": 415,
      "geneSymbol": "ARSL",
      "hgvs": [
        "ENST00000682364.1:c.1182G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507604.1:p.Trp394Ter",
        "hgvsWellDefined": "ENSP00000507604.1:p.Trp394_Gln402delinsCysLeuArgGluAspAspProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827356"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1523,
          "referenceAllele": "G",
          "start": 1522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000719",
      "geneNCBI_id": 415,
      "geneSymbol": "ARSL",
      "hgvs": [
        "ENST00000683191.1:n.1523G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828173"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2162,
          "referenceAllele": "G",
          "start": 2161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000719",
      "geneNCBI_id": 415,
      "geneSymbol": "ARSL",
      "hgvs": [
        "ENST00000683290.1:c.1818G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508156.1:p.Trp606Ter",
        "hgvsWellDefined": "ENSP00000508156.1:p.Trp606_Gln614delinsCysLeuArgGluAspAspProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828271"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1816,
          "referenceAllele": "G",
          "start": 1815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000719",
      "geneNCBI_id": 415,
      "geneSymbol": "ARSL",
      "hgvs": [
        "ENST00000683677.1:c.1731G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506786.1:p.Trp577Ter",
        "hgvsWellDefined": "ENSP00000506786.1:p.Trp577_Gln585delinsCysLeuArgGluAspAspProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828648"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1296,
          "referenceAllele": "G",
          "start": 1295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000719",
      "geneNCBI_id": 415,
      "geneSymbol": "ARSL",
      "hgvs": [
        "ENST00000684077.1:c.1296G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506767.1:p.Trp432Ter",
        "hgvsWellDefined": "ENSP00000506767.1:p.Trp432_Gln440delinsCysLeuArgGluAspAspProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829036"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1746,
          "referenceAllele": "G",
          "start": 1745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000719",
      "geneNCBI_id": 415,
      "geneSymbol": "ARSL",
      "hgvs": [
        "ENST00000684117.1:c.1581G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508337.1:p.Trp527Ter",
        "hgvsWellDefined": "ENSP00000508337.1:p.Trp527_Gln535delinsCysLeuArgGluAspAspProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829076"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1864,
          "referenceAllele": "G",
          "start": 1863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000719",
      "geneNCBI_id": 415,
      "geneSymbol": "ARSL",
      "hgvs": [
        "ENST00000684364.1:c.1731G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507304.1:p.Trp577Ter",
        "hgvsWellDefined": "ENSP00000507304.1:p.Trp577_Gln585delinsCysLeuArgGluAspAspProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829319"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1290,
          "referenceAllele": "G",
          "start": 1289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000719",
      "geneNCBI_id": 415,
      "geneSymbol": "ARSL",
      "hgvs": [
        "ENST00000684738.1:c.1182G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507481.1:p.Trp394Ter",
        "hgvsWellDefined": "ENSP00000507481.1:p.Trp394_Gln402delinsCysLeuArgGluAspAspProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829689"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1881,
          "referenceAllele": "G",
          "start": 1880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000719",
      "geneNCBI_id": 415,
      "geneSymbol": "ARSL",
      "hgvs": [
        "ENST00000381134.9:c.1743G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370526.3:p.Trp581Ter",
        "hgvsWellDefined": "ENSP00000370526.3:p.Trp581_Gln589delinsCysLeuArgGluAspAspProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752492",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000381134.9:c.1743G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000047.3:c.1743G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000370526.3:p.Trp581Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000038.2:p.Trp581Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2110,
          "referenceAllele": "G",
          "start": 2109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000719",
      "geneNCBI_id": 415,
      "geneSymbol": "ARSL",
      "hgvs": [
        "ENST00000545496.6:c.1818G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441417.1:p.Trp606Ter",
        "hgvsWellDefined": "ENSP00000441417.1:p.Trp606_Gln614delinsCysLeuArgGluAspAspProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759803"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2146,
          "referenceAllele": "G",
          "start": 2145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000719",
      "geneNCBI_id": 415,
      "geneSymbol": "ARSL",
      "hgvs": [
        "ENST00000672027.1:c.1818G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500220.1:p.Trp606Ter",
        "hgvsWellDefined": "ENSP00000500220.1:p.Trp606_Gln614delinsCysLeuArgGluAspAspProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773245"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2087,
          "referenceAllele": "G",
          "start": 2086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000719",
      "geneNCBI_id": 415,
      "geneSymbol": "ARSL",
      "hgvs": [
        "ENST00000672097.1:c.1740G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500727.1:p.Trp580Ter",
        "hgvsWellDefined": "ENSP00000500727.1:p.Trp580_Gln588delinsCysLeuArgGluAspAspProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773269"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1698,
          "referenceAllele": "G",
          "start": 1697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000719",
      "geneNCBI_id": 415,
      "geneSymbol": "ARSL",
      "hgvs": [
        "ENST00000672761.1:c.1581G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500108.1:p.Trp527Ter",
        "hgvsWellDefined": "ENSP00000500108.1:p.Trp527_Gln535delinsCysLeuArgGluAspAspProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773482"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1846,
          "referenceAllele": "G",
          "start": 1845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000719",
      "geneNCBI_id": 415,
      "geneSymbol": "ARSL",
      "hgvs": [
        "ENST00000673032.1:c.1581G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500778.1:p.Trp527Ter",
        "hgvsWellDefined": "ENSP00000500778.1:p.Trp527_Gln535delinsCysLeuArgGluAspAspProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773575"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1810,
          "referenceAllele": "G",
          "start": 1809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000719",
      "geneNCBI_id": 415,
      "geneSymbol": "ARSL",
      "hgvs": [
        "ENST00000381134.7:c.1743G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370526.3:p.Trp581Ter",
        "hgvsWellDefined": "ENSP00000370526.3:p.Trp581_Gln589delinsCysLeuArgGluAspAspProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273231"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1763,
          "referenceAllele": "G",
          "start": 1762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000719",
      "geneNCBI_id": 415,
      "geneSymbol": "ARSL",
      "hgvs": [
        "ENST00000540563.5:c.1608G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438198.1:p.Trp536Ter",
        "hgvsWellDefined": "ENSP00000438198.1:p.Trp536_Gln544delinsCysLeuArgGluAspAspProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362465"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2279,
          "referenceAllele": "G",
          "start": 2278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000719",
      "geneNCBI_id": 415,
      "geneSymbol": "ARSL",
      "hgvs": [
        "ENST00000545496.5:c.1818G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441417.1:p.Trp606Ter",
        "hgvsWellDefined": "ENSP00000441417.1:p.Trp606_Gln614delinsCysLeuArgGluAspAspProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365133"
    },
    {
      "@id": "http://reg.genome.network/allele/PA341098",
      "coordinates": [
        {
          "allele": "A",
          "end": 1993,
          "referenceAllele": "G",
          "start": 1992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000719",
      "geneNCBI_id": 415,
      "geneSymbol": "ARSL",
      "hgvs": [
        "NM_000047.2:c.1743G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000038.2:p.Trp581Ter",
        "hgvsWellDefined": "NP_000038.2:p.Trp581_Gln589delinsCysLeuArgGluAspAspProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006112"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826661084",
      "coordinates": [
        {
          "allele": "A",
          "end": 2279,
          "referenceAllele": "G",
          "start": 2278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000719",
      "geneNCBI_id": 415,
      "geneSymbol": "ARSL",
      "hgvs": [
        "NM_001282628.1:c.1818G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269557.1:p.Trp606Ter",
        "hgvsWellDefined": "NP_001269557.1:p.Trp606_Gln614delinsCysLeuArgGluAspAspProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022107"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1763,
          "referenceAllele": "G",
          "start": 1762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000719",
      "geneNCBI_id": 415,
      "geneSymbol": "ARSL",
      "hgvs": [
        "NM_001282631.1:c.1608G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269560.1:p.Trp536Ter",
        "hgvsWellDefined": "NP_001269560.1:p.Trp536_Gln544delinsCysLeuArgGluAspAspProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022110"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1920,
          "referenceAllele": "G",
          "start": 1919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000719",
      "geneNCBI_id": 415,
      "geneSymbol": "ARSL",
      "hgvs": [
        "XM_005274518.2:c.1770G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274575.1:p.Trp590Ter",
        "hgvsWellDefined": "XP_005274575.1:p.Trp590_Gln598delinsCysLeuArgGluAspAspProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067979"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2065,
          "referenceAllele": "G",
          "start": 2064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000719",
      "geneNCBI_id": 415,
      "geneSymbol": "ARSL",
      "hgvs": [
        "XM_005274519.3:c.1743G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274576.1:p.Trp581Ter",
        "hgvsWellDefined": "XP_005274576.1:p.Trp581_Gln589delinsCysLeuArgGluAspAspProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067980"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1857,
          "referenceAllele": "G",
          "start": 1856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000719",
      "geneNCBI_id": 415,
      "geneSymbol": "ARSL",
      "hgvs": [
        "XM_005274521.3:c.1581G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274578.1:p.Trp527Ter",
        "hgvsWellDefined": "XP_005274578.1:p.Trp527_Gln535delinsCysLeuArgGluAspAspProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067981"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1905,
          "referenceAllele": "G",
          "start": 1904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000719",
      "geneNCBI_id": 415,
      "geneSymbol": "ARSL",
      "hgvs": [
        "XM_011545519.1:c.1581G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543821.1:p.Trp527Ter",
        "hgvsWellDefined": "XP_011543821.1:p.Trp527_Gln535delinsCysLeuArgGluAspAspProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112419"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1363,
          "referenceAllele": "G",
          "start": 1362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000719",
      "geneNCBI_id": 415,
      "geneSymbol": "ARSL",
      "hgvs": [
        "XM_011545520.1:c.1257G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543822.1:p.Trp419Ter",
        "hgvsWellDefined": "XP_011543822.1:p.Trp419_Gln427delinsCysLeuArgGluAspAspProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112420"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1563,
          "referenceAllele": "G",
          "start": 1562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000719",
      "geneNCBI_id": 415,
      "geneSymbol": "ARSL",
      "hgvs": [
        "XM_011545521.1:c.1182G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543823.1:p.Trp394Ter",
        "hgvsWellDefined": "XP_011543823.1:p.Trp394_Gln402delinsCysLeuArgGluAspAspProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112421"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2083,
          "referenceAllele": "G",
          "start": 2082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000719",
      "geneNCBI_id": 415,
      "geneSymbol": "ARSL",
      "hgvs": [
        "XM_005274519.4:c.1743G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274576.1:p.Trp581Ter",
        "hgvsWellDefined": "XP_005274576.1:p.Trp581_Gln589delinsCysLeuArgGluAspAspProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537630"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1876,
          "referenceAllele": "G",
          "start": 1875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000719",
      "geneNCBI_id": 415,
      "geneSymbol": "ARSL",
      "hgvs": [
        "XM_005274521.4:c.1581G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274578.1:p.Trp527Ter",
        "hgvsWellDefined": "XP_005274578.1:p.Trp527_Gln535delinsCysLeuArgGluAspAspProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537631"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2210,
          "referenceAllele": "G",
          "start": 2209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000719",
      "geneNCBI_id": 415,
      "geneSymbol": "ARSL",
      "hgvs": [
        "XM_017029525.1:c.1818G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885014.1:p.Trp606Ter",
        "hgvsWellDefined": "XP_016885014.1:p.Trp606_Gln614delinsCysLeuArgGluAspAspProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579055"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1763,
          "referenceAllele": "G",
          "start": 1762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000719",
      "geneNCBI_id": 415,
      "geneSymbol": "ARSL",
      "hgvs": [
        "XM_017029526.1:c.1257G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885015.1:p.Trp419Ter",
        "hgvsWellDefined": "XP_016885015.1:p.Trp419_Gln427delinsCysLeuArgGluAspAspProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579056"
    },
    {
      "@id": "http://reg.genome.network/allele/PA341098",
      "coordinates": [
        {
          "allele": "A",
          "end": 1881,
          "referenceAllele": "G",
          "start": 1880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000719",
      "geneNCBI_id": 415,
      "geneSymbol": "ARSL",
      "hgvs": [
        "NM_000047.3:c.1743G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000038.2:p.Trp581Ter",
        "hgvsWellDefined": "NP_000038.2:p.Trp581_Gln589delinsCysLeuArgGluAspAspProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674676",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000381134.9:c.1743G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000047.3:c.1743G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000370526.3:p.Trp581Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000038.2:p.Trp581Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826661329",
      "coordinates": [
        {
          "allele": "A",
          "end": 1698,
          "referenceAllele": "G",
          "start": 1697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000719",
      "geneNCBI_id": 415,
      "geneSymbol": "ARSL",
      "hgvs": [
        "NM_001282631.2:c.1581G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269560.2:p.Trp527Ter",
        "hgvsWellDefined": "NP_001269560.2:p.Trp527_Gln535delinsCysLeuArgGluAspAspProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681842"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828310144",
      "coordinates": [
        {
          "allele": "A",
          "end": 1860,
          "referenceAllele": "G",
          "start": 1859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000719",
      "geneNCBI_id": 415,
      "geneSymbol": "ARSL",
      "hgvs": [
        "NM_001369079.1:c.1770G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356008.1:p.Trp590Ter",
        "hgvsWellDefined": "NP_001356008.1:p.Trp590_Gln598delinsCysLeuArgGluAspAspProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691530"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916047486",
      "coordinates": [
        {
          "allele": "A",
          "end": 2146,
          "referenceAllele": "G",
          "start": 2145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000719",
      "geneNCBI_id": 415,
      "geneSymbol": "ARSL",
      "hgvs": [
        "NM_001369080.1:c.1818G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356009.1:p.Trp606Ter",
        "hgvsWellDefined": "NP_001356009.1:p.Trp606_Gln614delinsCysLeuArgGluAspAspProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691531"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826661084",
      "coordinates": [
        {
          "allele": "A",
          "end": 2167,
          "referenceAllele": "G",
          "start": 2166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000719",
      "geneNCBI_id": 415,
      "geneSymbol": "ARSL",
      "hgvs": [
        "NM_001282628.2:c.1818G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269557.1:p.Trp606Ter",
        "hgvsWellDefined": "NP_001269557.1:p.Trp606_Gln614delinsCysLeuArgGluAspAspProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715880"
    }
  ],
  "type": "nucleotide"
}