{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2261721256",
  "communityStandardTitle": [
    "NM_001135705.3(ACBD4):c.*347T="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1053578",
        "rs": 1053578
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 45143918,
          "referenceAllele": "T",
          "start": 45143917
        }
      ],
      "hgvs": [
        "NC_000017.11:g.45143918T=",
        "CM000679.2:g.45143918T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 43221285,
          "referenceAllele": "T",
          "start": 43221284
        }
      ],
      "hgvs": [
        "NC_000017.10:g.43221285T=",
        "CM000679.1:g.43221285T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 40577068,
          "referenceAllele": "T",
          "start": 40577067
        }
      ],
      "hgvs": [
        "NC_000017.9:g.40577068T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1569,
          "referenceAllele": "T",
          "start": 1568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023337",
      "geneNCBI_id": 79777,
      "geneSymbol": "ACBD4",
      "hgvs": [
        "ENST00000321854.13:c.*347T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000314440.8:n.*347T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746446",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000321854.13:c.*347T="
          },
          "RefSeq": {
            "hgvs": "NM_001135705.3:c.*347T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000314440.8:n.*347T="
          },
          "RefSeq": {
            "hgvs": "NP_001129177.1:n.*347T="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1548,
          "referenceAllele": "T",
          "start": 1547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023337",
      "geneNCBI_id": 79777,
      "geneSymbol": "ACBD4",
      "hgvs": [
        "ENST00000321854.12:c.*347T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000314440.8:n.*347T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257998"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1723,
          "referenceAllele": "T",
          "start": 1722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023337",
      "geneNCBI_id": 79777,
      "geneSymbol": "ACBD4",
      "hgvs": [
        "ENST00000398322.7:c.*347T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381367.2:n.*347T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278226"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1772,
          "referenceAllele": "T",
          "start": 1771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023337",
      "geneNCBI_id": 79777,
      "geneSymbol": "ACBD4",
      "hgvs": [
        "ENST00000431281.5:c.*277T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405969.1:n.*277T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291542"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1983,
          "referenceAllele": "T",
          "start": 1982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023337",
      "geneNCBI_id": 79777,
      "geneSymbol": "ACBD4",
      "hgvs": [
        "ENST00000585553.5:n.1983T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS388801"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1740,
          "referenceAllele": "T",
          "start": 1739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023337",
      "geneNCBI_id": 79777,
      "geneSymbol": "ACBD4",
      "hgvs": [
        "ENST00000591859.5:c.*277T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465610.1:n.*277T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393176"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1426,
          "referenceAllele": "T",
          "start": 1425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023337",
      "geneNCBI_id": 79777,
      "geneSymbol": "ACBD4",
      "hgvs": [
        "ENST00000592162.5:c.*315T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466305.1:n.*315T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393372"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1772,
          "referenceAllele": "T",
          "start": 1771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023337",
      "geneNCBI_id": 79777,
      "geneSymbol": "ACBD4",
      "hgvs": [
        "NM_001135704.1:c.*277T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001129176.1:n.*277T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012476"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1609,
          "referenceAllele": "T",
          "start": 1608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023337",
      "geneNCBI_id": 79777,
      "geneSymbol": "ACBD4",
      "hgvs": [
        "NM_001135705.1:c.*347T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001129177.1:n.*347T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012477"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1647,
          "referenceAllele": "T",
          "start": 1646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023337",
      "geneNCBI_id": 79777,
      "geneSymbol": "ACBD4",
      "hgvs": [
        "NM_001135706.1:c.*277T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001129178.1:n.*277T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012478"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1763,
          "referenceAllele": "T",
          "start": 1762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023337",
      "geneNCBI_id": 79777,
      "geneSymbol": "ACBD4",
      "hgvs": [
        "NM_024722.2:c.*347T="
      ],
      "proteinEffect": {
        "hgvs": "NP_078998.1:n.*347T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037964"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1771,
          "referenceAllele": "T",
          "start": 1770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023337",
      "geneNCBI_id": 79777,
      "geneSymbol": "ACBD4",
      "hgvs": [
        "XM_005257673.1:c.*277T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005257730.1:n.*277T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061796"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1774,
          "referenceAllele": "T",
          "start": 1773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023337",
      "geneNCBI_id": 79777,
      "geneSymbol": "ACBD4",
      "hgvs": [
        "XM_005257674.1:c.*277T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005257731.1:n.*277T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061797"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1771,
          "referenceAllele": "T",
          "start": 1770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023337",
      "geneNCBI_id": 79777,
      "geneSymbol": "ACBD4",
      "hgvs": [
        "XM_005257677.1:c.*277T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005257734.1:n.*277T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061798"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1572,
          "referenceAllele": "T",
          "start": 1571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023337",
      "geneNCBI_id": 79777,
      "geneSymbol": "ACBD4",
      "hgvs": [
        "XM_006722085.1:c.*347T="
      ],
      "proteinEffect": {
        "hgvs": "XP_006722148.1:n.*347T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074402"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1470,
          "referenceAllele": "T",
          "start": 1469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023337",
      "geneNCBI_id": 79777,
      "geneSymbol": "ACBD4",
      "hgvs": [
        "XM_006722088.1:c.*347T="
      ],
      "proteinEffect": {
        "hgvs": "XP_006722151.1:n.*347T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074404"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1432,
          "referenceAllele": "T",
          "start": 1431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023337",
      "geneNCBI_id": 79777,
      "geneSymbol": "ACBD4",
      "hgvs": [
        "XM_006722089.1:c.*315T="
      ],
      "proteinEffect": {
        "hgvs": "XP_006722152.1:n.*315T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074405"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1429,
          "referenceAllele": "T",
          "start": 1428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023337",
      "geneNCBI_id": 79777,
      "geneSymbol": "ACBD4",
      "hgvs": [
        "XM_006722090.1:c.*315T="
      ],
      "proteinEffect": {
        "hgvs": "XP_006722153.1:n.*315T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074406"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1610,
          "referenceAllele": "T",
          "start": 1609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023337",
      "geneNCBI_id": 79777,
      "geneSymbol": "ACBD4",
      "hgvs": [
        "XM_011525255.1:c.*277T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011523557.1:n.*277T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092374"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1923,
          "referenceAllele": "T",
          "start": 1922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023337",
      "geneNCBI_id": 79777,
      "geneSymbol": "ACBD4",
      "hgvs": [
        "XM_011525256.1:c.*277T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011523558.1:n.*277T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092375"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1467,
          "referenceAllele": "T",
          "start": 1466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023337",
      "geneNCBI_id": 79777,
      "geneSymbol": "ACBD4",
      "hgvs": [
        "XM_011525257.1:c.*347T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011523559.1:n.*347T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092376"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1609,
          "referenceAllele": "T",
          "start": 1608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023337",
      "geneNCBI_id": 79777,
      "geneSymbol": "ACBD4",
      "hgvs": [
        "NM_001135705.2:c.*347T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001129177.1:n.*347T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511493"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1647,
          "referenceAllele": "T",
          "start": 1646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023337",
      "geneNCBI_id": 79777,
      "geneSymbol": "ACBD4",
      "hgvs": [
        "NM_001135706.2:c.*277T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001129178.1:n.*277T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511494"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2459,
          "referenceAllele": "T",
          "start": 2458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023337",
      "geneNCBI_id": 79777,
      "geneSymbol": "ACBD4",
      "hgvs": [
        "NM_001135707.2:c.*1308T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001129179.1:n.*1308T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511495"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1771,
          "referenceAllele": "T",
          "start": 1770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023337",
      "geneNCBI_id": 79777,
      "geneSymbol": "ACBD4",
      "hgvs": [
        "NM_001321352.1:c.*277T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001308281.1:n.*277T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514228"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1768,
          "referenceAllele": "T",
          "start": 1767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023337",
      "geneNCBI_id": 79777,
      "geneSymbol": "ACBD4",
      "hgvs": [
        "NM_001321353.1:c.*277T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001308282.1:n.*277T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514229"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1763,
          "referenceAllele": "T",
          "start": 1762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023337",
      "geneNCBI_id": 79777,
      "geneSymbol": "ACBD4",
      "hgvs": [
        "NM_024722.3:c.*347T="
      ],
      "proteinEffect": {
        "hgvs": "NP_078998.1:n.*347T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526173"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1982,
          "referenceAllele": "T",
          "start": 1981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023337",
      "geneNCBI_id": 79777,
      "geneSymbol": "ACBD4",
      "hgvs": [
        "XM_006722085.2:c.*347T="
      ],
      "proteinEffect": {
        "hgvs": "XP_006722148.1:n.*347T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540463"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2038,
          "referenceAllele": "T",
          "start": 2037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023337",
      "geneNCBI_id": 79777,
      "geneSymbol": "ACBD4",
      "hgvs": [
        "XM_017025084.1:c.*277T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016880573.1:n.*277T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575484"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1789,
          "referenceAllele": "T",
          "start": 1788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023337",
      "geneNCBI_id": 79777,
      "geneSymbol": "ACBD4",
      "hgvs": [
        "XM_017025085.1:c.*277T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016880574.1:n.*277T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575485"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1938,
          "referenceAllele": "T",
          "start": 1937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023337",
      "geneNCBI_id": 79777,
      "geneSymbol": "ACBD4",
      "hgvs": [
        "XM_017025086.1:c.*277T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016880575.1:n.*277T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575486"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2020,
          "referenceAllele": "T",
          "start": 2019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023337",
      "geneNCBI_id": 79777,
      "geneSymbol": "ACBD4",
      "hgvs": [
        "XM_017025087.1:c.*277T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016880576.1:n.*277T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575487"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2017,
          "referenceAllele": "T",
          "start": 2016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023337",
      "geneNCBI_id": 79777,
      "geneSymbol": "ACBD4",
      "hgvs": [
        "XM_017025088.1:c.*277T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016880577.1:n.*277T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575488"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2848,
          "referenceAllele": "T",
          "start": 2847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023337",
      "geneNCBI_id": 79777,
      "geneSymbol": "ACBD4",
      "hgvs": [
        "XM_017025089.2:c.*1138T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016880578.1:n.*1138T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575489"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2000,
          "referenceAllele": "T",
          "start": 1999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023337",
      "geneNCBI_id": 79777,
      "geneSymbol": "ACBD4",
      "hgvs": [
        "XM_017025090.1:c.*347T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016880579.1:n.*347T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575490"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1979,
          "referenceAllele": "T",
          "start": 1978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023337",
      "geneNCBI_id": 79777,
      "geneSymbol": "ACBD4",
      "hgvs": [
        "XM_017025091.1:c.*347T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016880580.1:n.*347T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575491"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2105,
          "referenceAllele": "T",
          "start": 2104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023337",
      "geneNCBI_id": 79777,
      "geneSymbol": "ACBD4",
      "hgvs": [
        "XM_017025092.2:c.*347T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016880581.1:n.*347T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575492"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2627,
          "referenceAllele": "T",
          "start": 2626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023337",
      "geneNCBI_id": 79777,
      "geneSymbol": "ACBD4",
      "hgvs": [
        "XM_017025094.1:c.*1308T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016880583.1:n.*1308T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575494"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1898,
          "referenceAllele": "T",
          "start": 1897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023337",
      "geneNCBI_id": 79777,
      "geneSymbol": "ACBD4",
      "hgvs": [
        "XM_017025095.1:c.*347T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016880584.1:n.*347T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575495"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1860,
          "referenceAllele": "T",
          "start": 1859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023337",
      "geneNCBI_id": 79777,
      "geneSymbol": "ACBD4",
      "hgvs": [
        "XM_017025096.1:c.*315T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016880585.1:n.*315T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575496"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1877,
          "referenceAllele": "T",
          "start": 1876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023337",
      "geneNCBI_id": 79777,
      "geneSymbol": "ACBD4",
      "hgvs": [
        "XM_017025097.1:c.*347T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016880586.1:n.*347T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575497"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1628,
          "referenceAllele": "T",
          "start": 1627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023337",
      "geneNCBI_id": 79777,
      "geneSymbol": "ACBD4",
      "hgvs": [
        "XM_017025098.1:c.*347T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016880587.1:n.*347T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575498"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1839,
          "referenceAllele": "T",
          "start": 1838
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023337",
      "geneNCBI_id": 79777,
      "geneSymbol": "ACBD4",
      "hgvs": [
        "XM_017025099.1:c.*315T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016880588.1:n.*315T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575499"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2589,
          "referenceAllele": "T",
          "start": 2588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023337",
      "geneNCBI_id": 79777,
      "geneSymbol": "ACBD4",
      "hgvs": [
        "XM_024450949.1:c.*1138T="
      ],
      "proteinEffect": {
        "hgvs": "XP_024306717.1:n.*1138T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584478"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1569,
          "referenceAllele": "T",
          "start": 1568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023337",
      "geneNCBI_id": 79777,
      "geneSymbol": "ACBD4",
      "hgvs": [
        "NM_001135705.3:c.*347T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001129177.1:n.*347T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677335",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000321854.13:c.*347T="
          },
          "RefSeq": {
            "hgvs": "NM_001135705.3:c.*347T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000314440.8:n.*347T="
          },
          "RefSeq": {
            "hgvs": "NP_001129177.1:n.*347T="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1607,
          "referenceAllele": "T",
          "start": 1606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023337",
      "geneNCBI_id": 79777,
      "geneSymbol": "ACBD4",
      "hgvs": [
        "NM_001135706.3:c.*277T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001129178.1:n.*277T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677336"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2419,
          "referenceAllele": "T",
          "start": 2418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023337",
      "geneNCBI_id": 79777,
      "geneSymbol": "ACBD4",
      "hgvs": [
        "NM_001135707.3:c.*1308T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001129179.1:n.*1308T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677337"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1752,
          "referenceAllele": "T",
          "start": 1751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023337",
      "geneNCBI_id": 79777,
      "geneSymbol": "ACBD4",
      "hgvs": [
        "NM_001321352.2:c.*277T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001308281.1:n.*277T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685309"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1749,
          "referenceAllele": "T",
          "start": 1748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023337",
      "geneNCBI_id": 79777,
      "geneSymbol": "ACBD4",
      "hgvs": [
        "NM_001321353.2:c.*277T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001308282.1:n.*277T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685310"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1723,
          "referenceAllele": "T",
          "start": 1722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023337",
      "geneNCBI_id": 79777,
      "geneSymbol": "ACBD4",
      "hgvs": [
        "NM_024722.4:c.*347T="
      ],
      "proteinEffect": {
        "hgvs": "NP_078998.1:n.*347T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698750"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2627,
          "referenceAllele": "T",
          "start": 2626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023337",
      "geneNCBI_id": 79777,
      "geneSymbol": "ACBD4",
      "hgvs": [
        "NM_001378111.1:c.*1308T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001365040.1:n.*1308T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721472"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2935,
          "referenceAllele": "T",
          "start": 2934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023337",
      "geneNCBI_id": 79777,
      "geneSymbol": "ACBD4",
      "hgvs": [
        "NM_001378112.1:c.*1308T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001365041.1:n.*1308T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721473"
    }
  ],
  "type": "nucleotide"
}