{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4650992",
  "communityStandardTitle": [
    "NM_177924.5(ASAH1):c.183A>G (p.Arg61=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=313538[alleleid]",
        "alleleId": 313538,
        "preferredName": "NM_177924.5(ASAH1):c.183A>G (p.Arg61=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/362384",
        "RCV": [
          "RCV000407217",
          "RCV002058713"
        ],
        "variationId": 362384
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-17928842-T-C",
        "id": "8-17928842-T-C",
        "variant": "8:17928842 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.17928842T>C?assembly=hg19",
        "id": "chr8:g.17928842T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.18071333T>C?assembly=hg38",
        "id": "chr8:g.18071333T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/559209309",
        "rs": 559209309
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-17928842-T-C?dataset=gnomad_r2_1",
        "id": "8-17928842-T-C",
        "variant": "8:17928842 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-18071333-T-C?dataset=gnomad_r3",
        "id": "8-18071333-T-C",
        "variant": "8:18071333 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-18071333-T-C?dataset=gnomad_r4",
        "id": "8-18071333-T-C",
        "variant": "8:18071333 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 18071333,
          "referenceAllele": "T",
          "start": 18071332
        }
      ],
      "hgvs": [
        "NC_000008.11:g.18071333T>C",
        "CM000670.2:g.18071333T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 17928842,
          "referenceAllele": "T",
          "start": 17928841
        }
      ],
      "hgvs": [
        "NC_000008.10:g.17928842T>C",
        "CM000670.1:g.17928842T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 17973122,
          "referenceAllele": "T",
          "start": 17973121
        }
      ],
      "hgvs": [
        "NC_000008.9:g.17973122T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 18666,
          "referenceAllele": "A",
          "start": 18665
        }
      ],
      "hgvs": [
        "NG_008985.1:g.18666A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001356"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 18666,
          "referenceAllele": "A",
          "start": 18665
        }
      ],
      "hgvs": [
        "NG_008985.2:g.18666A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673514"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 428,
          "referenceAllele": "A",
          "start": 427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000381733.9:c.231A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371152.4:p.Arg77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752573"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 262,
          "referenceAllele": "A",
          "start": 261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000518087.7:c.*19A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490753.1:n.*19A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758587"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 200,
          "referenceAllele": "A",
          "start": 199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000519545.6:n.200A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758652"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 233,
          "referenceAllele": "A",
          "start": 232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000520781.6:c.183A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427751.1:p.Arg61="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758701"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 195,
          "referenceAllele": "A",
          "start": 194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000523593.6:c.*26A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490700.1:n.*26A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758815"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 225,
          "referenceAllele": "A",
          "start": 224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000635769.1:c.204A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490485.1:p.Arg68="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762630"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 256,
          "referenceAllele": "A",
          "start": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000635944.1:c.*19A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490195.1:n.*19A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762756"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 240,
          "referenceAllele": "A",
          "start": 239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000635998.1:c.183A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490506.1:p.Arg61="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762795"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 115,
          "referenceAllele": "A",
          "start": 114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636009.1:c.115A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489988.1:n.115A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762804"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 281,
          "referenceAllele": "A",
          "start": 280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636033.1:c.*19A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489617.1:n.*19A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762824"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 480,
          "referenceAllele": "A",
          "start": 479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636050.1:c.*26A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490562.1:n.*26A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762838"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 199,
          "referenceAllele": "A",
          "start": 198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636128.1:c.183A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489789.1:p.Arg61="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762892"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 266,
          "referenceAllele": "A",
          "start": 265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636160.1:c.*75A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489651.1:n.*75A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762916"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 267,
          "referenceAllele": "A",
          "start": 266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636171.1:c.183A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489761.1:p.Arg61="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762923"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 168,
          "referenceAllele": "A",
          "start": 167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636269.1:c.-13A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490738.1:n.-13A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762999"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 174,
          "endIntronDirection": "-",
          "endIntronOffset": 1460,
          "referenceAllele": "A",
          "start": 174,
          "startIntronDirection": "-",
          "startIntronOffset": 1461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636299.1:c.174-1461A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490202.1:n.174-1461A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763021"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 267,
          "referenceAllele": "A",
          "start": 266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636435.1:n.267A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763112"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 410,
          "referenceAllele": "A",
          "start": 409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636455.1:c.231A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490502.1:p.Arg77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763126"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 193,
          "endIntronDirection": "-",
          "endIntronOffset": 1454,
          "referenceAllele": "A",
          "start": 193,
          "startIntronDirection": "-",
          "startIntronOffset": 1455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636494.1:c.126-1455A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490388.1:n.126-1455A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763158"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 401,
          "referenceAllele": "A",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636537.1:c.231A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489914.1:p.Arg77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763193"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 221,
          "referenceAllele": "A",
          "start": 220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636577.1:c.183A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490027.1:p.Arg61="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763220"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 392,
          "referenceAllele": "A",
          "start": 391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636691.1:c.-13A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490725.1:n.-13A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763311"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 209,
          "endIntronDirection": "-",
          "endIntronOffset": 4034,
          "referenceAllele": "A",
          "start": 209,
          "startIntronDirection": "-",
          "startIntronOffset": 4035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636701.1:c.126-4035A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489800.1:n.126-4035A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763318"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 216,
          "endIntronDirection": "-",
          "endIntronOffset": 1454,
          "referenceAllele": "A",
          "start": 216,
          "startIntronDirection": "-",
          "startIntronOffset": 1455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636715.1:c.174-1455A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490876.1:n.174-1455A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763330"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 133,
          "endIntronDirection": "-",
          "endIntronOffset": 1454,
          "referenceAllele": "A",
          "start": 133,
          "startIntronDirection": "-",
          "startIntronOffset": 1455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636815.1:c.134-1455A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763402"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 182,
          "referenceAllele": "A",
          "start": 181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636823.1:c.-13A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490798.1:n.-13A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763408"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 359,
          "referenceAllele": "A",
          "start": 358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636828.1:n.359A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763412"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 285,
          "referenceAllele": "A",
          "start": 284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636920.1:c.*19A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490437.1:n.*19A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763477"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 225,
          "referenceAllele": "A",
          "start": 224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636997.1:c.183A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490093.1:p.Arg61="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763533"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 736,
          "referenceAllele": "A",
          "start": 735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637013.1:c.*395A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490596.1:n.*395A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763544"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 248,
          "referenceAllele": "A",
          "start": 247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637095.1:c.183A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490415.1:p.Arg61="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763609"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 144,
          "endIntronDirection": "-",
          "endIntronOffset": 1454,
          "referenceAllele": "A",
          "start": 144,
          "startIntronDirection": "-",
          "startIntronOffset": 1455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637202.1:c.126-1455A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490129.1:n.126-1455A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763690"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1105,
          "referenceAllele": "A",
          "start": 1104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637244.1:c.*701A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490188.1:n.*701A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763723"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 790,
          "referenceAllele": "A",
          "start": 789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637429.1:c.*395A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490522.1:n.*395A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763856"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 642,
          "referenceAllele": "A",
          "start": 641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637484.1:c.*220A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490837.1:n.*220A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763891"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 198,
          "referenceAllele": "A",
          "start": 197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637528.1:c.183A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490801.1:p.Arg61="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763922"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 538,
          "referenceAllele": "A",
          "start": 537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637536.1:c.537A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490464.1:p.Arg179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763930"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 273,
          "referenceAllele": "A",
          "start": 272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637561.1:c.183A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490536.1:p.Arg61="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763947"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 205,
          "referenceAllele": "A",
          "start": 204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637603.1:c.183A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489979.1:p.Arg61="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763977"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 216,
          "referenceAllele": "A",
          "start": 215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637609.1:n.216A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763982"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 438,
          "referenceAllele": "A",
          "start": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637636.1:c.183A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490112.1:p.Arg61="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 203,
          "referenceAllele": "A",
          "start": 202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637638.1:c.183A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490774.1:p.Arg61="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764003"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 197,
          "referenceAllele": "A",
          "start": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637718.1:c.-13A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490133.1:n.-13A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764059"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 232,
          "referenceAllele": "A",
          "start": 231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637790.2:c.183A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490272.1:p.Arg61="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764110",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000637790.2:c.183A>G"
          },
          "RefSeq": {
            "hgvs": "NM_177924.5:c.183A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000490272.1:p.Arg61="
          },
          "RefSeq": {
            "hgvs": "NP_808592.2:p.Arg61="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 390,
          "referenceAllele": "A",
          "start": 389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637792.1:c.231A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490423.1:p.Arg77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764112"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 251,
          "referenceAllele": "A",
          "start": 250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637805.1:c.*19A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489884.1:n.*19A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764122"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 234,
          "referenceAllele": "A",
          "start": 233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637872.1:c.-13A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490432.1:n.-13A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764172"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 213,
          "referenceAllele": "A",
          "start": 212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637898.1:n.213A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764194"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 220,
          "referenceAllele": "A",
          "start": 219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637922.1:c.-13A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490071.1:n.-13A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764211"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 907,
          "referenceAllele": "A",
          "start": 906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637946.1:c.*632A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490025.1:n.*632A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764229"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 391,
          "referenceAllele": "A",
          "start": 390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637991.1:c.231A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489901.1:p.Arg77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764261"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 239,
          "referenceAllele": "A",
          "start": 238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000638069.1:n.239A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764318"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 495,
          "referenceAllele": "A",
          "start": 494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000262097.10:c.183A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262097.6:p.Arg61="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250926"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 436,
          "referenceAllele": "A",
          "start": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000314146.10:c.252A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326970.10:p.Arg84="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256912"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 398,
          "referenceAllele": "A",
          "start": 397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000381733.8:c.231A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371152.4:p.Arg77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273483"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 231,
          "referenceAllele": "A",
          "start": 230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000518087.6:n.231A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS345615"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 189,
          "referenceAllele": "A",
          "start": 188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000519468.5:n.189A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS346705"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 197,
          "referenceAllele": "A",
          "start": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000519545.5:n.197A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS346770"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 769,
          "referenceAllele": "A",
          "start": 768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000520051.1:n.769A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS347171"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 495,
          "referenceAllele": "A",
          "start": 494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000520781.5:c.183A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427751.1:p.Arg61="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS347754"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 156,
          "endIntronDirection": "-",
          "endIntronOffset": 4034,
          "referenceAllele": "A",
          "start": 156,
          "startIntronDirection": "-",
          "startIntronOffset": 4035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000523593.5:n.157-4035A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS349940"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825624428",
      "coordinates": [
        {
          "allele": "G",
          "end": 449,
          "referenceAllele": "A",
          "start": 448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NM_001127505.1:c.252A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120977.1:p.Arg84="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011631"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825624428",
      "coordinates": [
        {
          "allele": "G",
          "end": 449,
          "referenceAllele": "A",
          "start": 448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NM_001127505.2:c.252A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120977.1:p.Arg84="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011632"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829524936",
      "coordinates": [
        {
          "allele": "G",
          "end": 428,
          "referenceAllele": "A",
          "start": 427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NM_004315.4:c.231A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004306.3:p.Arg77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029484"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829524936",
      "coordinates": [
        {
          "allele": "G",
          "end": 428,
          "referenceAllele": "A",
          "start": 427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NM_004315.5:c.231A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004306.3:p.Arg77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029485"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830368759",
      "coordinates": [
        {
          "allele": "G",
          "end": 495,
          "referenceAllele": "A",
          "start": 494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NM_177924.3:c.183A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_808592.2:p.Arg61="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043383"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830368759",
      "coordinates": [
        {
          "allele": "G",
          "end": 495,
          "referenceAllele": "A",
          "start": 494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NM_177924.4:c.183A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_808592.2:p.Arg61="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043384"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 256,
          "referenceAllele": "A",
          "start": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "XM_005273504.2:c.117A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005273561.1:p.Arg39="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067626"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 180,
          "referenceAllele": "A",
          "start": 179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NM_001363743.1:c.-13A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350672.1:n.-13A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523526"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 256,
          "referenceAllele": "A",
          "start": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "XM_005273504.3:c.117A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005273561.1:p.Arg39="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537465"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830368759",
      "coordinates": [
        {
          "allele": "G",
          "end": 232,
          "referenceAllele": "A",
          "start": 231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NM_177924.5:c.183A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_808592.2:p.Arg61="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672816",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000637790.2:c.183A>G"
          },
          "RefSeq": {
            "hgvs": "NM_177924.5:c.183A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000490272.1:p.Arg61="
          },
          "RefSeq": {
            "hgvs": "NP_808592.2:p.Arg61="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825624428",
      "coordinates": [
        {
          "allele": "G",
          "end": 412,
          "referenceAllele": "A",
          "start": 411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NM_001127505.3:c.252A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120977.1:p.Arg84="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676901"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 180,
          "referenceAllele": "A",
          "start": 179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NM_001363743.2:c.-13A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350672.1:n.-13A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690762"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829524936",
      "coordinates": [
        {
          "allele": "G",
          "end": 391,
          "referenceAllele": "A",
          "start": 390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NM_004315.6:c.231A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004306.3:p.Arg77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696102"
    }
  ],
  "type": "nucleotide"
}