{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8114434",
  "communityStandardTitle": [
    "NM_001082486.2(ACD):c.1148G>A (p.Arg383Gln)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=844091[alleleid]",
        "alleleId": 844091,
        "preferredName": "NM_001082486.2(ACD):c.1148G>A (p.Arg383Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/838233",
        "RCV": [
          "RCV001039741",
          "RCV002391112"
        ],
        "variationId": 838233
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-67691947-C-T",
        "id": "16-67691947-C-T",
        "variant": "16:67691947 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.67691947C>T?assembly=hg19",
        "id": "chr16:g.67691947C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.67658044C>T?assembly=hg38",
        "id": "chr16:g.67658044C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/200293827",
        "rs": 200293827
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-67691947-C-T?dataset=gnomad_r2_1",
        "id": "16-67691947-C-T",
        "variant": "16:67691947 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-67658044-C-T?dataset=gnomad_r3",
        "id": "16-67658044-C-T",
        "variant": "16:67658044 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-67658044-C-T?dataset=gnomad_r4",
        "id": "16-67658044-C-T",
        "variant": "16:67658044 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 67658044,
          "referenceAllele": "C",
          "start": 67658043
        }
      ],
      "hgvs": [
        "NC_000016.10:g.67658044C>T",
        "CM000678.2:g.67658044C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 67691947,
          "referenceAllele": "C",
          "start": 67691946
        }
      ],
      "hgvs": [
        "NC_000016.9:g.67691947C>T",
        "CM000678.1:g.67691947C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 66249448,
          "referenceAllele": "C",
          "start": 66249447
        }
      ],
      "hgvs": [
        "NC_000016.8:g.66249448C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7772,
          "referenceAllele": "G",
          "start": 7771
        }
      ],
      "hgvs": [
        "NG_042874.1:g.7772G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS006058"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 18126,
          "referenceAllele": "C",
          "start": 18125
        }
      ],
      "hgvs": [
        "NG_054728.1:g.18126C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617498"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1397,
          "endIntronDirection": "-",
          "endIntronOffset": 15,
          "referenceAllele": "G",
          "start": 1397,
          "startIntronDirection": "-",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025070",
      "geneNCBI_id": 65057,
      "geneSymbol": "ACD",
      "hgvs": [
        "ENST00000602382.6:c.830-16G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473313.2:n.830-16G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906198"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2153,
          "referenceAllele": "G",
          "start": 2152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025070",
      "geneNCBI_id": 65057,
      "geneSymbol": "ACD",
      "hgvs": [
        "ENST00000602780.2:n.2153G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS906202"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2068,
          "referenceAllele": "G",
          "start": 2067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025070",
      "geneNCBI_id": 65057,
      "geneSymbol": "ACD",
      "hgvs": [
        "ENST00000602860.6:n.2068G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS906204"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2257,
          "referenceAllele": "G",
          "start": 2256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025070",
      "geneNCBI_id": 65057,
      "geneSymbol": "ACD",
      "hgvs": [
        "ENST00000695641.1:n.2257G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907146"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1187,
          "referenceAllele": "G",
          "start": 1186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025070",
      "geneNCBI_id": 65057,
      "geneSymbol": "ACD",
      "hgvs": [
        "ENST00000695648.1:c.1130G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512081.1:p.Arg377Gln",
        "hgvsWellDefined": "ENSP00000512081.1:p.Arg377Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907152"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1976,
          "referenceAllele": "G",
          "start": 1975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025070",
      "geneNCBI_id": 65057,
      "geneSymbol": "ACD",
      "hgvs": [
        "ENST00000695656.1:n.1976G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907160"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1466,
          "referenceAllele": "G",
          "start": 1465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025070",
      "geneNCBI_id": 65057,
      "geneSymbol": "ACD",
      "hgvs": [
        "ENST00000695657.1:n.1466G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907161"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1026,
          "endIntronDirection": "-",
          "endIntronOffset": 15,
          "referenceAllele": "G",
          "start": 1026,
          "startIntronDirection": "-",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025070",
      "geneNCBI_id": 65057,
      "geneSymbol": "ACD",
      "hgvs": [
        "ENST00000695658.1:c.987-16G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512088.1:n.987-16G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907162"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1188,
          "referenceAllele": "G",
          "start": 1187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025070",
      "geneNCBI_id": 65057,
      "geneSymbol": "ACD",
      "hgvs": [
        "ENST00000695659.1:c.1148G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512089.1:p.Arg383Gln",
        "hgvsWellDefined": "ENSP00000512089.1:p.Arg383Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907163"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1136,
          "referenceAllele": "G",
          "start": 1135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025070",
      "geneNCBI_id": 65057,
      "geneSymbol": "ACD",
      "hgvs": [
        "ENST00000695662.1:c.*627G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512091.1:n.*627G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907166"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1143,
          "referenceAllele": "G",
          "start": 1142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025070",
      "geneNCBI_id": 65057,
      "geneSymbol": "ACD",
      "hgvs": [
        "ENST00000695694.1:c.1103G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512105.1:p.Arg368Gln",
        "hgvsWellDefined": "ENSP00000512105.1:p.Arg368Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907197"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1214,
          "referenceAllele": "G",
          "start": 1213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025070",
      "geneNCBI_id": 65057,
      "geneSymbol": "ACD",
      "hgvs": [
        "ENST00000695695.1:n.1214G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907198"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1210,
          "endIntronDirection": "-",
          "endIntronOffset": 15,
          "referenceAllele": "G",
          "start": 1210,
          "startIntronDirection": "-",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025070",
      "geneNCBI_id": 65057,
      "geneSymbol": "ACD",
      "hgvs": [
        "ENST00000695696.1:n.1211-16G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907199"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1139,
          "referenceAllele": "G",
          "start": 1138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025070",
      "geneNCBI_id": 65057,
      "geneSymbol": "ACD",
      "hgvs": [
        "ENST00000695697.1:c.1061G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512106.1:p.Arg354Gln",
        "hgvsWellDefined": "ENSP00000512106.1:p.Arg354Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907200"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1398,
          "referenceAllele": "G",
          "start": 1397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025070",
      "geneNCBI_id": 65057,
      "geneSymbol": "ACD",
      "hgvs": [
        "ENST00000695698.1:n.1398G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907201"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1436,
          "referenceAllele": "G",
          "start": 1435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025070",
      "geneNCBI_id": 65057,
      "geneSymbol": "ACD",
      "hgvs": [
        "ENST00000695699.1:n.1436G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907202"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 481,
          "endIntronDirection": "-",
          "endIntronOffset": 190,
          "referenceAllele": "G",
          "start": 481,
          "startIntronDirection": "-",
          "startIntronOffset": 191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025070",
      "geneNCBI_id": 65057,
      "geneSymbol": "ACD",
      "hgvs": [
        "ENST00000695709.1:n.482-191G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907208"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1782,
          "referenceAllele": "G",
          "start": 1781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025070",
      "geneNCBI_id": 65057,
      "geneSymbol": "ACD",
      "hgvs": [
        "ENST00000695710.1:n.1782G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907209"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1223,
          "referenceAllele": "G",
          "start": 1222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025070",
      "geneNCBI_id": 65057,
      "geneSymbol": "ACD",
      "hgvs": [
        "ENST00000695711.1:c.*456G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512109.1:n.*456G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907210"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1147,
          "referenceAllele": "G",
          "start": 1146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025070",
      "geneNCBI_id": 65057,
      "geneSymbol": "ACD",
      "hgvs": [
        "ENST00000695712.1:c.*898G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512110.1:n.*898G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907211"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 471,
          "referenceAllele": "G",
          "start": 470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025070",
      "geneNCBI_id": 65057,
      "geneSymbol": "ACD",
      "hgvs": [
        "ENST00000695731.1:c.471G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907229"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 685,
          "endIntronDirection": "-",
          "endIntronOffset": 190,
          "referenceAllele": "G",
          "start": 685,
          "startIntronDirection": "-",
          "startIntronOffset": 191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025070",
      "geneNCBI_id": 65057,
      "geneSymbol": "ACD",
      "hgvs": [
        "ENST00000695732.1:c.646-191G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512125.1:n.646-191G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907230"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 782,
          "endIntronDirection": "-",
          "endIntronOffset": 15,
          "referenceAllele": "G",
          "start": 782,
          "startIntronDirection": "-",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025070",
      "geneNCBI_id": 65057,
      "geneSymbol": "ACD",
      "hgvs": [
        "ENST00000695733.1:c.743-16G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512126.1:n.743-16G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907231"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1188,
          "referenceAllele": "G",
          "start": 1187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025070",
      "geneNCBI_id": 65057,
      "geneSymbol": "ACD",
      "hgvs": [
        "ENST00000695734.1:c.1148G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512127.1:p.Arg383Gln",
        "hgvsWellDefined": "ENSP00000512127.1:p.Arg383Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907232"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 558,
          "referenceAllele": "G",
          "start": 557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025070",
      "geneNCBI_id": 65057,
      "geneSymbol": "ACD",
      "hgvs": [
        "ENST00000695735.1:n.558G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907233"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1729,
          "referenceAllele": "G",
          "start": 1728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025070",
      "geneNCBI_id": 65057,
      "geneSymbol": "ACD",
      "hgvs": [
        "ENST00000219251.13:c.1139G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219251.8:p.Arg380Gln",
        "hgvsWellDefined": "ENSP00000219251.8:p.Arg380Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740420"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1188,
          "referenceAllele": "G",
          "start": 1187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025070",
      "geneNCBI_id": 65057,
      "geneSymbol": "ACD",
      "hgvs": [
        "ENST00000620761.6:c.1148G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478084.1:p.Arg383Gln",
        "hgvsWellDefined": "ENSP00000478084.1:p.Arg383Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762297",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000620761.6:c.1148G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001082486.2:c.1148G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000478084.1:p.Arg383Gln"
          },
          "RefSeq": {
            "hgvs": "NP_001075955.2:p.Arg383Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1729,
          "referenceAllele": "G",
          "start": 1728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025070",
      "geneNCBI_id": 65057,
      "geneSymbol": "ACD",
      "hgvs": [
        "ENST00000219251.12:c.1397G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219251.7:p.Arg466Gln",
        "hgvsWellDefined": "ENSP00000219251.7:p.Arg466Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248168"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1671,
          "referenceAllele": "G",
          "start": 1670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025070",
      "geneNCBI_id": 65057,
      "geneSymbol": "ACD",
      "hgvs": [
        "ENST00000393919.8:c.1406G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377496.4:p.Arg469Gln",
        "hgvsWellDefined": "ENSP00000377496.4:p.Arg469Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275875"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1158,
          "referenceAllele": "G",
          "start": 1157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025070",
      "geneNCBI_id": 65057,
      "geneSymbol": "ACD",
      "hgvs": [
        "ENST00000602320.1:c.1139G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473679.2:p.Arg380Gln",
        "hgvsWellDefined": "ENSP00000473679.2:p.Arg380Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS398148"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 371,
          "endIntronDirection": "-",
          "endIntronOffset": 15,
          "referenceAllele": "G",
          "start": 371,
          "startIntronDirection": "-",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025070",
      "geneNCBI_id": 65057,
      "geneSymbol": "ACD",
      "hgvs": [
        "ENST00000602382.5:c.372-16G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS398168"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2147,
          "referenceAllele": "G",
          "start": 2146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025070",
      "geneNCBI_id": 65057,
      "geneSymbol": "ACD",
      "hgvs": [
        "ENST00000602622.5:n.2147G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS398266"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 280,
          "referenceAllele": "G",
          "start": 279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025070",
      "geneNCBI_id": 65057,
      "geneSymbol": "ACD",
      "hgvs": [
        "ENST00000602656.1:n.280G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS398286"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1586,
          "referenceAllele": "G",
          "start": 1585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025070",
      "geneNCBI_id": 65057,
      "geneSymbol": "ACD",
      "hgvs": [
        "ENST00000602860.5:n.1586G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS398378"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1743,
          "referenceAllele": "G",
          "start": 1742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025070",
      "geneNCBI_id": 65057,
      "geneSymbol": "ACD",
      "hgvs": [
        "ENST00000620338.4:c.1406G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483117.1:p.Arg469Gln",
        "hgvsWellDefined": "ENSP00000483117.1:p.Arg469Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404782"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1160,
          "referenceAllele": "G",
          "start": 1159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025070",
      "geneNCBI_id": 65057,
      "geneSymbol": "ACD",
      "hgvs": [
        "ENST00000620761.4:c.1148G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478084.1:p.Arg383Gln",
        "hgvsWellDefined": "ENSP00000478084.1:p.Arg383Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404968"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1743,
          "referenceAllele": "G",
          "start": 1742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025070",
      "geneNCBI_id": 65057,
      "geneSymbol": "ACD",
      "hgvs": [
        "NM_001082486.1:c.1406G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001075955.1:p.Arg469Gln",
        "hgvsWellDefined": "NP_001075955.1:p.Arg469Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010358"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1734,
          "referenceAllele": "G",
          "start": 1733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025070",
      "geneNCBI_id": 65057,
      "geneSymbol": "ACD",
      "hgvs": [
        "NM_001082487.1:c.1397G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001075956.1:p.Arg466Gln",
        "hgvsWellDefined": "NP_001075956.1:p.Arg466Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010359"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1734,
          "referenceAllele": "G",
          "start": 1733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025070",
      "geneNCBI_id": 65057,
      "geneSymbol": "ACD",
      "hgvs": [
        "NM_022914.2:c.1397G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_075065.2:p.Arg466Gln",
        "hgvsWellDefined": "NP_075065.2:p.Arg466Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037516"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1656,
          "referenceAllele": "G",
          "start": 1655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025070",
      "geneNCBI_id": 65057,
      "geneSymbol": "ACD",
      "hgvs": [
        "XM_005256115.2:c.1319G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256172.1:p.Arg440Gln",
        "hgvsWellDefined": "XP_005256172.1:p.Arg440Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061171"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1759,
          "referenceAllele": "G",
          "start": 1758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025070",
      "geneNCBI_id": 65057,
      "geneSymbol": "ACD",
      "hgvs": [
        "XR_429727.2:n.1759G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118470"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139677731",
      "coordinates": [
        {
          "allele": "A",
          "end": 1188,
          "referenceAllele": "G",
          "start": 1187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025070",
      "geneNCBI_id": 65057,
      "geneSymbol": "ACD",
      "hgvs": [
        "NM_001082486.2:c.1148G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001075955.2:p.Arg383Gln",
        "hgvsWellDefined": "NP_001075955.2:p.Arg383Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511258",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000620761.6:c.1148G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001082486.2:c.1148G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000478084.1:p.Arg383Gln"
          },
          "RefSeq": {
            "hgvs": "NP_001075955.2:p.Arg383Gln"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830003299",
      "coordinates": [
        {
          "allele": "A",
          "end": 1179,
          "referenceAllele": "G",
          "start": 1178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025070",
      "geneNCBI_id": 65057,
      "geneSymbol": "ACD",
      "hgvs": [
        "NM_022914.3:c.1139G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_075065.3:p.Arg380Gln",
        "hgvsWellDefined": "NP_075065.3:p.Arg380Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526114"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1652,
          "referenceAllele": "G",
          "start": 1651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025070",
      "geneNCBI_id": 65057,
      "geneSymbol": "ACD",
      "hgvs": [
        "XM_005256115.4:c.1319G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256172.1:p.Arg440Gln",
        "hgvsWellDefined": "XP_005256172.1:p.Arg440Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534391"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1772,
          "referenceAllele": "G",
          "start": 1771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025070",
      "geneNCBI_id": 65057,
      "geneSymbol": "ACD",
      "hgvs": [
        "XR_429727.3:n.1772G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606703"
    }
  ],
  "type": "nucleotide"
}