{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA251660",
  "communityStandardTitle": [
    "NM_001371596.2(MFSD8):c.1286G>A (p.Gly429Asp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=16041[alleleid]",
        "alleleId": 16041,
        "preferredName": "NM_001371596.2(MFSD8):c.1286G>A (p.Gly429Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1002",
        "RCV": [
          "RCV000001057"
        ],
        "variationId": 1002
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.128842743C>T?assembly=hg19",
        "id": "chr4:g.128842743C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.127921588C>T?assembly=hg38",
        "id": "chr4:g.127921588C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/118203976",
        "rs": 118203976
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-128842743-C-T?dataset=gnomad_r2_1",
        "id": "4-128842743-C-T",
        "variant": "4:128842743 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-127921588-C-T?dataset=gnomad_r4",
        "id": "4-127921588-C-T",
        "variant": "4:127921588 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 127921588,
          "referenceAllele": "C",
          "start": 127921587
        }
      ],
      "hgvs": [
        "NC_000004.12:g.127921588C>T",
        "CM000666.2:g.127921588C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 128842743,
          "referenceAllele": "C",
          "start": 128842742
        }
      ],
      "hgvs": [
        "NC_000004.11:g.128842743C>T",
        "CM000666.1:g.128842743C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 129062193,
          "referenceAllele": "C",
          "start": 129062192
        }
      ],
      "hgvs": [
        "NC_000004.10:g.129062193C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 49397,
          "referenceAllele": "G",
          "start": 49396
        }
      ],
      "hgvs": [
        "NG_008657.1:g.49397G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001150"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1414,
          "referenceAllele": "G",
          "start": 1413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000296468.8:c.1286G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000296468.3:p.Gly429Asp",
        "hgvsWellDefined": "ENSP00000296468.3:p.Gly429Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744420"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1376,
          "referenceAllele": "G",
          "start": 1375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000509826.2:c.*607G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421176.2:n.*607G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758193"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1234,
          "referenceAllele": "G",
          "start": 1233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000513559.6:c.1004G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425000.2:p.Gly335Asp",
        "hgvsWellDefined": "ENSP00000425000.2:p.Gly335Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758326"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1628,
          "referenceAllele": "G",
          "start": 1627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000515130.6:c.*171G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493056.1:n.*171G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758377"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1220,
          "referenceAllele": "G",
          "start": 1219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641025.1:c.*171G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493346.1:n.*171G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765790"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1002,
          "referenceAllele": "G",
          "start": 1001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641092.1:c.*171G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493392.1:n.*171G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765837"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1454,
          "referenceAllele": "G",
          "start": 1453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641133.1:c.*600G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493192.1:n.*600G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765868"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1152,
          "referenceAllele": "G",
          "start": 1151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641146.1:n.1152G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765880"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 997,
          "referenceAllele": "G",
          "start": 996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641147.1:c.836G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493133.1:p.Gly279Asp",
        "hgvsWellDefined": "ENSP00000493133.1:p.Gly279Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765881"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1362,
          "referenceAllele": "G",
          "start": 1361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641178.1:c.1151G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492989.1:p.Gly384Asp",
        "hgvsWellDefined": "ENSP00000492989.1:p.Gly384Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765900"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1361,
          "referenceAllele": "G",
          "start": 1360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641186.1:c.1172G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493347.1:p.Gly391Asp",
        "hgvsWellDefined": "ENSP00000493347.1:p.Gly391Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765905"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1028,
          "referenceAllele": "G",
          "start": 1027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641228.1:c.*171G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493194.1:n.*171G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765936"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1068,
          "referenceAllele": "G",
          "start": 1067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641332.1:c.*347G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493397.1:n.*347G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1138,
          "referenceAllele": "G",
          "start": 1137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641340.1:c.*415G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493191.1:n.*415G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766015"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 533,
          "referenceAllele": "G",
          "start": 532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641388.1:n.533G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766050"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1028,
          "referenceAllele": "G",
          "start": 1027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641393.1:c.836G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493197.1:p.Gly279Asp",
        "hgvsWellDefined": "ENSP00000493197.1:p.Gly279Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766053"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 876,
          "referenceAllele": "G",
          "start": 875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641397.1:c.*171G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493406.1:n.*171G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766056"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 211,
          "referenceAllele": "G",
          "start": 210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641413.1:c.211G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766067"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1324,
          "referenceAllele": "G",
          "start": 1323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641434.1:c.1286G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493279.1:p.Gly429Asp",
        "hgvsWellDefined": "ENSP00000493279.1:p.Gly429Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766079"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1142,
          "referenceAllele": "G",
          "start": 1141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641464.1:c.*519G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493438.1:n.*519G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766101"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1197,
          "referenceAllele": "G",
          "start": 1196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641482.1:c.*171G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493277.1:n.*171G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766113"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1245,
          "referenceAllele": "G",
          "start": 1244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641508.1:c.*519G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493209.1:n.*519G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766132"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1009,
          "referenceAllele": "G",
          "start": 1008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641509.1:c.971G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493459.1:p.Gly324Asp",
        "hgvsWellDefined": "ENSP00000493459.1:p.Gly324Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766133"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1080,
          "referenceAllele": "G",
          "start": 1079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641590.1:c.*171G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493132.1:n.*171G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766193"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1132,
          "referenceAllele": "G",
          "start": 1131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641658.1:c.*451G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492987.1:n.*451G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766243"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1326,
          "referenceAllele": "G",
          "start": 1325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641686.2:c.1286G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493218.2:p.Gly429Asp",
        "hgvsWellDefined": "ENSP00000493218.2:p.Gly429Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766264",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000641686.2:c.1286G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001371596.2:c.1286G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493218.2:p.Gly429Asp"
          },
          "RefSeq": {
            "hgvs": "NP_001358525.1:p.Gly429Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1125,
          "referenceAllele": "G",
          "start": 1124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641690.1:c.1085G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492966.1:p.Gly362Asp",
        "hgvsWellDefined": "ENSP00000492966.1:p.Gly362Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766268"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1187,
          "referenceAllele": "G",
          "start": 1186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641742.1:c.*451G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493315.1:n.*451G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766303"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1343,
          "referenceAllele": "G",
          "start": 1342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641748.1:c.1286G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493330.1:p.Gly429Asp",
        "hgvsWellDefined": "ENSP00000493330.1:p.Gly429Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766308"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1113,
          "referenceAllele": "G",
          "start": 1112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641753.1:c.1113G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766311"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1166,
          "referenceAllele": "G",
          "start": 1165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641774.1:c.*538G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492960.1:n.*538G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766326"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 518,
          "referenceAllele": "G",
          "start": 517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641830.1:c.518G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766368"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 914,
          "referenceAllele": "G",
          "start": 913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641843.1:c.*347G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493174.1:n.*347G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766379"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 487,
          "referenceAllele": "G",
          "start": 486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641869.1:c.487G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766400"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1052,
          "referenceAllele": "G",
          "start": 1051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641870.1:c.*347G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493044.1:n.*347G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766401"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1145,
          "referenceAllele": "G",
          "start": 1144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641882.1:c.*451G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493301.1:n.*451G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766408"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1017,
          "referenceAllele": "G",
          "start": 1016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641928.1:c.*415G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493418.1:n.*415G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766442"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 584,
          "endIntronDirection": "-",
          "endIntronOffset": 751,
          "referenceAllele": "G",
          "start": 584,
          "startIntronDirection": "-",
          "startIntronOffset": 752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641949.1:c.554-752G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492891.1:n.554-752G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766455"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1150,
          "referenceAllele": "G",
          "start": 1149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000642012.1:n.1150G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766498"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1093,
          "referenceAllele": "G",
          "start": 1092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000642034.1:c.*171G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493285.1:n.*171G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766514"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1333,
          "referenceAllele": "G",
          "start": 1332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000642042.1:c.1286G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493260.1:p.Gly429Asp",
        "hgvsWellDefined": "ENSP00000493260.1:p.Gly429Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766521"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1066,
          "referenceAllele": "G",
          "start": 1065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000642078.1:c.*347G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492885.1:n.*347G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766546"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1414,
          "referenceAllele": "G",
          "start": 1413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000296468.7:c.1286G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000296468.3:p.Gly429Asp",
        "hgvsWellDefined": "ENSP00000296468.3:p.Gly429Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254307"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 314,
          "referenceAllele": "G",
          "start": 313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000504126.1:n.314G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS336276"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1291,
          "referenceAllele": "G",
          "start": 1290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000513559.5:c.1151G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425000.1:p.Gly384Asp",
        "hgvsWellDefined": "ENSP00000425000.1:p.Gly384Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS343275"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1628,
          "referenceAllele": "G",
          "start": 1627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000515130.5:n.1628G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS344445"
    },
    {
      "@id": "http://reg.genome.network/allele/PA101467",
      "coordinates": [
        {
          "allele": "A",
          "end": 1449,
          "referenceAllele": "G",
          "start": 1448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_152778.2:c.1286G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_689991.1:p.Gly429Asp",
        "hgvsWellDefined": "NP_689991.1:p.Gly429Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042142"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1363,
          "referenceAllele": "G",
          "start": 1362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XM_005262893.1:c.1286G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262950.1:p.Gly429Asp",
        "hgvsWellDefined": "XP_005262950.1:p.Gly429Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063603"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1216,
          "referenceAllele": "G",
          "start": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XM_005262896.1:c.1139G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262953.1:p.Gly380Asp",
        "hgvsWellDefined": "XP_005262953.1:p.Gly380Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063604"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1162,
          "referenceAllele": "G",
          "start": 1161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XM_005262897.1:c.1085G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262954.1:p.Gly362Asp",
        "hgvsWellDefined": "XP_005262954.1:p.Gly362Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063605"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1259,
          "referenceAllele": "G",
          "start": 1258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XM_005262898.2:c.*171G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262955.1:n.*171G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063606"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1249,
          "referenceAllele": "G",
          "start": 1248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XM_011531830.1:c.1172G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530132.1:p.Gly391Asp",
        "hgvsWellDefined": "XP_011530132.1:p.Gly391Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098862"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1048,
          "referenceAllele": "G",
          "start": 1047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XM_011531831.1:c.971G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530133.1:p.Gly324Asp",
        "hgvsWellDefined": "XP_011530133.1:p.Gly324Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098863"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1145,
          "referenceAllele": "G",
          "start": 1144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XM_011531832.1:c.*171G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530134.1:n.*171G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098864"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1363,
          "referenceAllele": "G",
          "start": 1362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XR_938717.1:n.1363G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133415"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828088488",
      "coordinates": [
        {
          "allele": "A",
          "end": 1207,
          "referenceAllele": "G",
          "start": 1206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_001363520.1:c.1085G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350449.1:p.Gly362Asp",
        "hgvsWellDefined": "NP_001350449.1:p.Gly362Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523347"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828088933",
      "coordinates": [
        {
          "allele": "A",
          "end": 1093,
          "referenceAllele": "G",
          "start": 1092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_001363521.1:c.971G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350450.1:p.Gly324Asp",
        "hgvsWellDefined": "NP_001350450.1:p.Gly324Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523348"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1259,
          "referenceAllele": "G",
          "start": 1258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XM_005262898.3:c.*171G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262955.1:n.*171G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535566"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1058,
          "referenceAllele": "G",
          "start": 1057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XM_017007989.1:c.*171G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863478.1:n.*171G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562614"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1360,
          "referenceAllele": "G",
          "start": 1359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XM_024453981.1:c.1151G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309749.1:p.Gly384Asp",
        "hgvsWellDefined": "XP_024309749.1:p.Gly384Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587353"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1202,
          "referenceAllele": "G",
          "start": 1201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XM_024453982.1:c.1037G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309750.1:p.Gly346Asp",
        "hgvsWellDefined": "XP_024309750.1:p.Gly346Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587354"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1001,
          "referenceAllele": "G",
          "start": 1000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XM_024453983.1:c.836G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309751.1:p.Gly279Asp",
        "hgvsWellDefined": "XP_024309751.1:p.Gly279Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587355"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1259,
          "referenceAllele": "G",
          "start": 1258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XR_001741194.1:n.1259G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591232"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1145,
          "referenceAllele": "G",
          "start": 1144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XR_001741195.1:n.1145G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591233"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1058,
          "referenceAllele": "G",
          "start": 1057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XR_001741196.1:n.1058G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591234"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1218,
          "referenceAllele": "G",
          "start": 1217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XR_001741197.1:n.1218G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591235"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1114,
          "referenceAllele": "G",
          "start": 1113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XR_001741198.2:n.1114G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591236"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1114,
          "referenceAllele": "G",
          "start": 1113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XR_001741199.1:n.1114G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591237"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1363,
          "referenceAllele": "G",
          "start": 1362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XR_938717.2:n.1363G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS612030"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828088488",
      "coordinates": [
        {
          "allele": "A",
          "end": 1125,
          "referenceAllele": "G",
          "start": 1124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_001363520.2:c.1085G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350449.1:p.Gly362Asp",
        "hgvsWellDefined": "NP_001350449.1:p.Gly362Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690673"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828088933",
      "coordinates": [
        {
          "allele": "A",
          "end": 1011,
          "referenceAllele": "G",
          "start": 1010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_001363521.2:c.971G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350450.1:p.Gly324Asp",
        "hgvsWellDefined": "NP_001350450.1:p.Gly324Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690674"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828492607",
      "coordinates": [
        {
          "allele": "A",
          "end": 1291,
          "referenceAllele": "G",
          "start": 1290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_001371590.1:c.1151G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358519.1:p.Gly384Asp",
        "hgvsWellDefined": "NP_001358519.1:p.Gly384Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692982"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828493142",
      "coordinates": [
        {
          "allele": "A",
          "end": 1326,
          "referenceAllele": "G",
          "start": 1325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_001371591.1:c.1286G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358520.1:p.Gly429Asp",
        "hgvsWellDefined": "NP_001358520.1:p.Gly429Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692983"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573072405",
      "coordinates": [
        {
          "allele": "A",
          "end": 1332,
          "referenceAllele": "G",
          "start": 1331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_001371592.1:c.1292G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358521.1:p.Gly431Asp",
        "hgvsWellDefined": "NP_001358521.1:p.Gly431Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692984"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828441358",
      "coordinates": [
        {
          "allele": "A",
          "end": 1212,
          "referenceAllele": "G",
          "start": 1211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_001371593.1:c.1172G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358522.1:p.Gly391Asp",
        "hgvsWellDefined": "NP_001358522.1:p.Gly391Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692985"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828442602",
      "coordinates": [
        {
          "allele": "A",
          "end": 1179,
          "referenceAllele": "G",
          "start": 1178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_001371594.1:c.1139G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358523.1:p.Gly380Asp",
        "hgvsWellDefined": "NP_001358523.1:p.Gly380Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692986"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828443520",
      "coordinates": [
        {
          "allele": "A",
          "end": 1177,
          "referenceAllele": "G",
          "start": 1176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_001371595.1:c.1004G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358524.1:p.Gly335Asp",
        "hgvsWellDefined": "NP_001358524.1:p.Gly335Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692987"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828444833",
      "coordinates": [
        {
          "allele": "A",
          "end": 1326,
          "referenceAllele": "G",
          "start": 1325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_001371596.2:c.1286G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358525.1:p.Gly429Asp",
        "hgvsWellDefined": "NP_001358525.1:p.Gly429Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692988",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000641686.2:c.1286G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001371596.2:c.1286G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493218.2:p.Gly429Asp"
          },
          "RefSeq": {
            "hgvs": "NP_001358525.1:p.Gly429Asp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA101467",
      "coordinates": [
        {
          "allele": "A",
          "end": 1428,
          "referenceAllele": "G",
          "start": 1427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_152778.3:c.1286G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_689991.1:p.Gly429Asp",
        "hgvsWellDefined": "NP_689991.1:p.Gly429Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700257"
    },
    {
      "@id": "http://reg.genome.network/allele/PA101467",
      "coordinates": [
        {
          "allele": "A",
          "end": 1428,
          "referenceAllele": "G",
          "start": 1427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_152778.4:c.1286G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_689991.1:p.Gly429Asp",
        "hgvsWellDefined": "NP_689991.1:p.Gly429Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729430"
    }
  ],
  "type": "nucleotide"
}