{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1492804270",
  "communityStandardTitle": [
    "NM_001371596.2(MFSD8):c.1141G= (p.Glu381=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/724159970",
        "rs": 724159970
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 127921733,
          "referenceAllele": "C",
          "start": 127921732
        }
      ],
      "hgvs": [
        "NC_000004.12:g.127921733C=",
        "CM000666.2:g.127921733C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 128842888,
          "referenceAllele": "C",
          "start": 128842887
        }
      ],
      "hgvs": [
        "NC_000004.11:g.128842888C=",
        "CM000666.1:g.128842888C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 129062338,
          "referenceAllele": "C",
          "start": 129062337
        }
      ],
      "hgvs": [
        "NC_000004.10:g.129062338C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 49252,
          "referenceAllele": "G",
          "start": 49251
        }
      ],
      "hgvs": [
        "NG_008657.1:g.49252G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001150"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1269,
          "referenceAllele": "G",
          "start": 1268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000296468.8:c.1141G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000296468.3:p.Glu381="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744420"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1231,
          "referenceAllele": "G",
          "start": 1230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000509826.2:c.*462G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421176.2:n.*462G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758193"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1089,
          "referenceAllele": "G",
          "start": 1088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000513559.6:c.859G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425000.2:p.Glu287="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758326"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1483,
          "referenceAllele": "G",
          "start": 1482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000515130.6:c.*26G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493056.1:n.*26G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758377"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1075,
          "referenceAllele": "G",
          "start": 1074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641025.1:c.*26G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493346.1:n.*26G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765790"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 857,
          "referenceAllele": "G",
          "start": 856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641092.1:c.*26G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493392.1:n.*26G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765837"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1309,
          "referenceAllele": "G",
          "start": 1308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641133.1:c.*455G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493192.1:n.*455G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765868"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1007,
          "referenceAllele": "G",
          "start": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641146.1:n.1007G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765880"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 852,
          "referenceAllele": "G",
          "start": 851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641147.1:c.691G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493133.1:p.Glu231="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765881"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1217,
          "referenceAllele": "G",
          "start": 1216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641178.1:c.1006G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492989.1:p.Glu336="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765900"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1216,
          "referenceAllele": "G",
          "start": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641186.1:c.1027G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493347.1:p.Glu343="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765905"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 883,
          "referenceAllele": "G",
          "start": 882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641228.1:c.*26G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493194.1:n.*26G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765936"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 923,
          "referenceAllele": "G",
          "start": 922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641332.1:c.*202G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493397.1:n.*202G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766011"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 993,
          "referenceAllele": "G",
          "start": 992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641340.1:c.*270G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493191.1:n.*270G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766015"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 388,
          "referenceAllele": "G",
          "start": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641388.1:n.388G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766050"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 883,
          "referenceAllele": "G",
          "start": 882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641393.1:c.691G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493197.1:p.Glu231="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766053"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 731,
          "referenceAllele": "G",
          "start": 730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641397.1:c.*26G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493406.1:n.*26G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766056"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 66,
          "referenceAllele": "G",
          "start": 65
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641413.1:c.66G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766067"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1179,
          "referenceAllele": "G",
          "start": 1178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641434.1:c.1141G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493279.1:p.Glu381="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766079"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 997,
          "referenceAllele": "G",
          "start": 996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641464.1:c.*374G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493438.1:n.*374G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766101"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1052,
          "referenceAllele": "G",
          "start": 1051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641482.1:c.*26G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493277.1:n.*26G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766113"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1100,
          "referenceAllele": "G",
          "start": 1099
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641508.1:c.*374G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493209.1:n.*374G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766132"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 864,
          "referenceAllele": "G",
          "start": 863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641509.1:c.826G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493459.1:p.Glu276="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766133"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 935,
          "referenceAllele": "G",
          "start": 934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641590.1:c.*26G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493132.1:n.*26G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766193"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 987,
          "referenceAllele": "G",
          "start": 986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641658.1:c.*306G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492987.1:n.*306G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766243"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1181,
          "referenceAllele": "G",
          "start": 1180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641686.2:c.1141G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493218.2:p.Glu381="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766264",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000641686.2:c.1141G="
          },
          "RefSeq": {
            "hgvs": "NM_001371596.2:c.1141G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493218.2:p.Glu381="
          },
          "RefSeq": {
            "hgvs": "NP_001358525.1:p.Glu381="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 980,
          "referenceAllele": "G",
          "start": 979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641690.1:c.940G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492966.1:p.Glu314="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766268"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1042,
          "referenceAllele": "G",
          "start": 1041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641742.1:c.*306G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493315.1:n.*306G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766303"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1198,
          "referenceAllele": "G",
          "start": 1197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641748.1:c.1141G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493330.1:p.Glu381="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766308"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 968,
          "referenceAllele": "G",
          "start": 967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641753.1:c.968G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766311"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1021,
          "referenceAllele": "G",
          "start": 1020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641774.1:c.*393G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492960.1:n.*393G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766326"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 373,
          "referenceAllele": "G",
          "start": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641830.1:c.373G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766368"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 769,
          "referenceAllele": "G",
          "start": 768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641843.1:c.*202G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493174.1:n.*202G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766379"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 342,
          "referenceAllele": "G",
          "start": 341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641869.1:c.342G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766400"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 907,
          "referenceAllele": "G",
          "start": 906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641870.1:c.*202G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493044.1:n.*202G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766401"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1000,
          "referenceAllele": "G",
          "start": 999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641882.1:c.*306G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493301.1:n.*306G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766408"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 872,
          "referenceAllele": "G",
          "start": 871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641928.1:c.*270G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493418.1:n.*270G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766442"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 584,
          "endIntronDirection": "-",
          "endIntronOffset": 896,
          "referenceAllele": "G",
          "start": 584,
          "startIntronDirection": "-",
          "startIntronOffset": 897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641949.1:c.554-897G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492891.1:n.554-897G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766455"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1005,
          "referenceAllele": "G",
          "start": 1004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000642012.1:n.1005G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766498"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 948,
          "referenceAllele": "G",
          "start": 947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000642034.1:c.*26G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493285.1:n.*26G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766514"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1188,
          "referenceAllele": "G",
          "start": 1187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000642042.1:c.1141G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493260.1:p.Glu381="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766521"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 921,
          "referenceAllele": "G",
          "start": 920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000642078.1:c.*202G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492885.1:n.*202G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766546"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1269,
          "referenceAllele": "G",
          "start": 1268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000296468.7:c.1141G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000296468.3:p.Glu381="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254307"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 169,
          "referenceAllele": "G",
          "start": 168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000504126.1:n.169G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS336276"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 932,
          "referenceAllele": "G",
          "start": 931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000505284.5:n.932G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS337117"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1146,
          "referenceAllele": "G",
          "start": 1145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000513559.5:c.1006G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425000.1:p.Glu336="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS343275"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1483,
          "referenceAllele": "G",
          "start": 1482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000515130.5:n.1483G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS344445"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069999533",
      "coordinates": [
        {
          "allele": "G",
          "end": 1304,
          "referenceAllele": "G",
          "start": 1303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_152778.2:c.1141G="
      ],
      "proteinEffect": {
        "hgvs": "NP_689991.1:p.Glu381="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042142"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1218,
          "referenceAllele": "G",
          "start": 1217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XM_005262893.1:c.1141G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005262950.1:p.Glu381="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063603"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1071,
          "referenceAllele": "G",
          "start": 1070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XM_005262896.1:c.994G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005262953.1:p.Glu332="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063604"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1017,
          "referenceAllele": "G",
          "start": 1016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XM_005262897.1:c.940G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005262954.1:p.Glu314="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063605"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1114,
          "referenceAllele": "G",
          "start": 1113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XM_005262898.2:c.*26G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005262955.1:n.*26G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063606"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1104,
          "referenceAllele": "G",
          "start": 1103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XM_011531830.1:c.1027G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530132.1:p.Glu343="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098862"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 903,
          "referenceAllele": "G",
          "start": 902
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XM_011531831.1:c.826G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530133.1:p.Glu276="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098863"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1000,
          "referenceAllele": "G",
          "start": 999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XM_011531832.1:c.*26G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530134.1:n.*26G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098864"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1218,
          "referenceAllele": "G",
          "start": 1217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XR_938717.1:n.1218G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133415"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1062,
          "referenceAllele": "G",
          "start": 1061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_001363520.1:c.940G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001350449.1:p.Glu314="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523347"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 948,
          "referenceAllele": "G",
          "start": 947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_001363521.1:c.826G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001350450.1:p.Glu276="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523348"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1114,
          "referenceAllele": "G",
          "start": 1113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XM_005262898.3:c.*26G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005262955.1:n.*26G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535566"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 913,
          "referenceAllele": "G",
          "start": 912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XM_017007989.1:c.*26G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016863478.1:n.*26G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562614"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1215,
          "referenceAllele": "G",
          "start": 1214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XM_024453981.1:c.1006G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024309749.1:p.Glu336="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587353"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1057,
          "referenceAllele": "G",
          "start": 1056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XM_024453982.1:c.892G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024309750.1:p.Glu298="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587354"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 856,
          "referenceAllele": "G",
          "start": 855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XM_024453983.1:c.691G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024309751.1:p.Glu231="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587355"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1114,
          "referenceAllele": "G",
          "start": 1113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XR_001741194.1:n.1114G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591232"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1000,
          "referenceAllele": "G",
          "start": 999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XR_001741195.1:n.1000G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591233"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 913,
          "referenceAllele": "G",
          "start": 912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XR_001741196.1:n.913G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591234"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1073,
          "referenceAllele": "G",
          "start": 1072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XR_001741197.1:n.1073G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591235"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 969,
          "referenceAllele": "G",
          "start": 968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XR_001741198.2:n.969G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591236"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 969,
          "referenceAllele": "G",
          "start": 968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XR_001741199.1:n.969G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591237"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1218,
          "referenceAllele": "G",
          "start": 1217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XR_938717.2:n.1218G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS612030"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 980,
          "referenceAllele": "G",
          "start": 979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_001363520.2:c.940G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001350449.1:p.Glu314="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690673"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 866,
          "referenceAllele": "G",
          "start": 865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_001363521.2:c.826G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001350450.1:p.Glu276="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690674"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1146,
          "referenceAllele": "G",
          "start": 1145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_001371590.1:c.1006G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001358519.1:p.Glu336="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692982"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1181,
          "referenceAllele": "G",
          "start": 1180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_001371591.1:c.1141G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001358520.1:p.Glu381="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692983"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1187,
          "referenceAllele": "G",
          "start": 1186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_001371592.1:c.1147G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001358521.1:p.Glu383="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692984"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1067,
          "referenceAllele": "G",
          "start": 1066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_001371593.1:c.1027G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001358522.1:p.Glu343="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692985"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1034,
          "referenceAllele": "G",
          "start": 1033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_001371594.1:c.994G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001358523.1:p.Glu332="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692986"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1032,
          "referenceAllele": "G",
          "start": 1031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_001371595.1:c.859G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001358524.1:p.Glu287="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692987"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1181,
          "referenceAllele": "G",
          "start": 1180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_001371596.2:c.1141G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001358525.1:p.Glu381="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692988",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000641686.2:c.1141G="
          },
          "RefSeq": {
            "hgvs": "NM_001371596.2:c.1141G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493218.2:p.Glu381="
          },
          "RefSeq": {
            "hgvs": "NP_001358525.1:p.Glu381="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069999533",
      "coordinates": [
        {
          "allele": "G",
          "end": 1283,
          "referenceAllele": "G",
          "start": 1282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_152778.3:c.1141G="
      ],
      "proteinEffect": {
        "hgvs": "NP_689991.1:p.Glu381="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700257"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069999533",
      "coordinates": [
        {
          "allele": "G",
          "end": 1283,
          "referenceAllele": "G",
          "start": 1282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_152778.4:c.1141G="
      ],
      "proteinEffect": {
        "hgvs": "NP_689991.1:p.Glu381="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729430"
    }
  ],
  "type": "nucleotide"
}