{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3077328",
  "communityStandardTitle": [
    "NM_001371596.2(MFSD8):c.975A>G (p.Leu325=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=491691[alleleid]",
        "alleleId": 491691,
        "preferredName": "NM_001371596.2(MFSD8):c.975A>G (p.Leu325=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/500267",
        "RCV": [
          "RCV000591840",
          "RCV001078494",
          "RCV001835869"
        ],
        "variationId": 500267
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-128851861-T-C",
        "id": "4-128851861-T-C",
        "variant": "4:128851861 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.128851861T>C?assembly=hg19",
        "id": "chr4:g.128851861T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.127930706T>C?assembly=hg38",
        "id": "chr4:g.127930706T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/570989221",
        "rs": 570989221
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-128851861-T-C?dataset=gnomad_r2_1",
        "id": "4-128851861-T-C",
        "variant": "4:128851861 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-127930706-T-C?dataset=gnomad_r3",
        "id": "4-127930706-T-C",
        "variant": "4:127930706 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-127930706-T-C?dataset=gnomad_r4",
        "id": "4-127930706-T-C",
        "variant": "4:127930706 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 127930706,
          "referenceAllele": "T",
          "start": 127930705
        }
      ],
      "hgvs": [
        "NC_000004.12:g.127930706T>C",
        "CM000666.2:g.127930706T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 128851861,
          "referenceAllele": "T",
          "start": 128851860
        }
      ],
      "hgvs": [
        "NC_000004.11:g.128851861T>C",
        "CM000666.1:g.128851861T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 129071311,
          "referenceAllele": "T",
          "start": 129071310
        }
      ],
      "hgvs": [
        "NC_000004.10:g.129071311T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 40279,
          "referenceAllele": "A",
          "start": 40278
        }
      ],
      "hgvs": [
        "NG_008657.1:g.40279A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001150"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1103,
          "referenceAllele": "A",
          "start": 1102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000296468.8:c.975A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000296468.3:p.Leu325="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744420"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 977,
          "referenceAllele": "A",
          "start": 976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000509826.2:c.*208A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421176.2:n.*208A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758193"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 923,
          "referenceAllele": "A",
          "start": 922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000513559.6:c.693A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425000.2:p.Leu231="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758326"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1421,
          "referenceAllele": "A",
          "start": 1420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000515130.6:c.840A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493056.1:p.Leu280="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758377"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 365,
          "referenceAllele": "A",
          "start": 364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641003.1:n.365A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765775"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1013,
          "referenceAllele": "A",
          "start": 1012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641025.1:c.975A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493346.1:p.Leu325="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765790"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 795,
          "referenceAllele": "A",
          "start": 794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641092.1:c.774A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493392.1:p.Leu258="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765837"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1143,
          "referenceAllele": "A",
          "start": 1142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641133.1:c.*289A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493192.1:n.*289A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765868"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 841,
          "referenceAllele": "A",
          "start": 840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641146.1:n.841A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765880"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 686,
          "referenceAllele": "A",
          "start": 685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641147.1:c.525A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493133.1:p.Leu175="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765881"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1051,
          "referenceAllele": "A",
          "start": 1050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641178.1:c.840A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492989.1:p.Leu280="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765900"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1050,
          "referenceAllele": "A",
          "start": 1049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641186.1:c.861A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493347.1:p.Leu287="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765905"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 821,
          "referenceAllele": "A",
          "start": 820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641228.1:c.774A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493194.1:p.Leu258="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765936"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 861,
          "referenceAllele": "A",
          "start": 860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641332.1:c.*140A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493397.1:n.*140A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766011"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 931,
          "referenceAllele": "A",
          "start": 930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641340.1:c.*208A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493191.1:n.*208A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766015"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 618,
          "referenceAllele": "A",
          "start": 617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641369.1:c.471A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493037.1:p.Leu157="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766035"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 326,
          "referenceAllele": "A",
          "start": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641388.1:n.326A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766050"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 717,
          "referenceAllele": "A",
          "start": 716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641393.1:c.525A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493197.1:p.Leu175="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766053"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 669,
          "referenceAllele": "A",
          "start": 668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641397.1:c.660A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493406.1:p.Leu220="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766056"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4,
          "referenceAllele": "A",
          "start": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641413.1:c.4A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766067"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1013,
          "referenceAllele": "A",
          "start": 1012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641434.1:c.975A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493279.1:p.Leu325="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766079"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 831,
          "referenceAllele": "A",
          "start": 830
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641464.1:c.*208A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493438.1:n.*208A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766101"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 990,
          "referenceAllele": "A",
          "start": 989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641482.1:c.975A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493277.1:p.Leu325="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766113"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 934,
          "referenceAllele": "A",
          "start": 933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641508.1:c.*208A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493209.1:n.*208A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766132"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 698,
          "referenceAllele": "A",
          "start": 697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641509.1:c.660A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493459.1:p.Leu220="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766133"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 709,
          "endIntronDirection": "+",
          "endIntronOffset": 2279,
          "referenceAllele": "A",
          "start": 709,
          "startIntronDirection": "+",
          "startIntronOffset": 2278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641538.1:c.709+2279A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766155"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 873,
          "referenceAllele": "A",
          "start": 872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641590.1:c.861A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493132.1:p.Leu287="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766193"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 821,
          "referenceAllele": "A",
          "start": 820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641658.1:c.*140A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492987.1:n.*140A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766243"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1015,
          "referenceAllele": "A",
          "start": 1014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641686.2:c.975A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493218.2:p.Leu325="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766264",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000641686.2:c.975A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001371596.2:c.975A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493218.2:p.Leu325="
          },
          "RefSeq": {
            "hgvs": "NP_001358525.1:p.Leu325="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 814,
          "referenceAllele": "A",
          "start": 813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641690.1:c.774A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492966.1:p.Leu258="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766268"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 876,
          "referenceAllele": "A",
          "start": 875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641742.1:c.*140A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493315.1:n.*140A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766303"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1032,
          "referenceAllele": "A",
          "start": 1031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641748.1:c.975A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493330.1:p.Leu325="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766308"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 802,
          "referenceAllele": "A",
          "start": 801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641753.1:c.802A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766311"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 836,
          "referenceAllele": "A",
          "start": 835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641774.1:c.*208A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492960.1:n.*208A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766326"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 311,
          "referenceAllele": "A",
          "start": 310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641830.1:c.311A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766368"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 707,
          "referenceAllele": "A",
          "start": 706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641843.1:c.*140A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493174.1:n.*140A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766379"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 280,
          "referenceAllele": "A",
          "start": 279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641869.1:c.280A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766400"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 845,
          "referenceAllele": "A",
          "start": 844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641870.1:c.*140A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493044.1:n.*140A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766401"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 834,
          "referenceAllele": "A",
          "start": 833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641882.1:c.*140A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493301.1:n.*140A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766408"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 810,
          "referenceAllele": "A",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641928.1:c.*208A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493418.1:n.*208A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766442"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 584,
          "endIntronDirection": "-",
          "endIntronOffset": 9869,
          "referenceAllele": "A",
          "start": 584,
          "startIntronDirection": "-",
          "startIntronOffset": 9870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641949.1:c.554-9870A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492891.1:n.554-9870A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766455"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 839,
          "referenceAllele": "A",
          "start": 838
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000642012.1:n.839A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766498"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 886,
          "referenceAllele": "A",
          "start": 885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000642034.1:c.861A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493285.1:p.Leu287="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766514"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1022,
          "referenceAllele": "A",
          "start": 1021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000642042.1:c.975A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493260.1:p.Leu325="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766521"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 859,
          "referenceAllele": "A",
          "start": 858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000642078.1:c.*140A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492885.1:n.*140A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766546"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 202,
          "referenceAllele": "A",
          "start": 201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000642121.1:n.202A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766571"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1103,
          "referenceAllele": "A",
          "start": 1102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000296468.7:c.975A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000296468.3:p.Leu325="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254307"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 870,
          "referenceAllele": "A",
          "start": 869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000505284.5:n.870A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS337117"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 785,
          "referenceAllele": "A",
          "start": 784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000509826.1:c.*208A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421176.1:n.*208A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340504"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 980,
          "referenceAllele": "A",
          "start": 979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000513559.5:c.840A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425000.1:p.Leu280="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS343275"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1421,
          "referenceAllele": "A",
          "start": 1420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000515130.5:n.1421A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS344445"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830293868",
      "coordinates": [
        {
          "allele": "G",
          "end": 1138,
          "referenceAllele": "A",
          "start": 1137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_152778.2:c.975A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_689991.1:p.Leu325="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042142"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1052,
          "referenceAllele": "A",
          "start": 1051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XM_005262893.1:c.975A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262950.1:p.Leu325="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063603"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 905,
          "referenceAllele": "A",
          "start": 904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XM_005262896.1:c.828A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262953.1:p.Leu276="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063604"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 851,
          "referenceAllele": "A",
          "start": 850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XM_005262897.1:c.774A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262954.1:p.Leu258="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063605"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1052,
          "referenceAllele": "A",
          "start": 1051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XM_005262898.2:c.975A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262955.1:p.Leu325="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063606"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 938,
          "referenceAllele": "A",
          "start": 937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XM_011531830.1:c.861A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530132.1:p.Leu287="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098862"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 737,
          "referenceAllele": "A",
          "start": 736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XM_011531831.1:c.660A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530133.1:p.Leu220="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098863"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 938,
          "referenceAllele": "A",
          "start": 937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XM_011531832.1:c.861A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530134.1:p.Leu287="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098864"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1052,
          "referenceAllele": "A",
          "start": 1051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XR_938717.1:n.1052A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133415"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828088376",
      "coordinates": [
        {
          "allele": "G",
          "end": 896,
          "referenceAllele": "A",
          "start": 895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_001363520.1:c.774A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350449.1:p.Leu258="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523347"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828088822",
      "coordinates": [
        {
          "allele": "G",
          "end": 782,
          "referenceAllele": "A",
          "start": 781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_001363521.1:c.660A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350450.1:p.Leu220="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523348"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1052,
          "referenceAllele": "A",
          "start": 1051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XM_005262898.3:c.975A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262955.1:p.Leu325="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535566"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 851,
          "referenceAllele": "A",
          "start": 850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XM_017007989.1:c.774A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863478.1:p.Leu258="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562614"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1049,
          "referenceAllele": "A",
          "start": 1048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XM_024453981.1:c.840A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309749.1:p.Leu280="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587353"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 891,
          "referenceAllele": "A",
          "start": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XM_024453982.1:c.726A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309750.1:p.Leu242="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587354"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 690,
          "referenceAllele": "A",
          "start": 689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XM_024453983.1:c.525A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309751.1:p.Leu175="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587355"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1052,
          "referenceAllele": "A",
          "start": 1051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XR_001741194.1:n.1052A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591232"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 938,
          "referenceAllele": "A",
          "start": 937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XR_001741195.1:n.938A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591233"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 851,
          "referenceAllele": "A",
          "start": 850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XR_001741196.1:n.851A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591234"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 907,
          "referenceAllele": "A",
          "start": 906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XR_001741197.1:n.907A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591235"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 907,
          "referenceAllele": "A",
          "start": 906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XR_001741198.2:n.907A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591236"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 907,
          "referenceAllele": "A",
          "start": 906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XR_001741199.1:n.907A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591237"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1052,
          "referenceAllele": "A",
          "start": 1051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XR_938717.2:n.1052A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS612030"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828088376",
      "coordinates": [
        {
          "allele": "G",
          "end": 814,
          "referenceAllele": "A",
          "start": 813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_001363520.2:c.774A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350449.1:p.Leu258="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690673"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828088822",
      "coordinates": [
        {
          "allele": "G",
          "end": 700,
          "referenceAllele": "A",
          "start": 699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_001363521.2:c.660A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350450.1:p.Leu220="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690674"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828492495",
      "coordinates": [
        {
          "allele": "G",
          "end": 980,
          "referenceAllele": "A",
          "start": 979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_001371590.1:c.840A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358519.1:p.Leu280="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692982"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828493031",
      "coordinates": [
        {
          "allele": "G",
          "end": 1015,
          "referenceAllele": "A",
          "start": 1014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_001371591.1:c.975A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358520.1:p.Leu325="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692983"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828440543",
      "coordinates": [
        {
          "allele": "G",
          "end": 1021,
          "referenceAllele": "A",
          "start": 1020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_001371592.1:c.981A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358521.1:p.Leu327="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692984"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828441138",
      "coordinates": [
        {
          "allele": "G",
          "end": 901,
          "referenceAllele": "A",
          "start": 900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_001371593.1:c.861A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358522.1:p.Leu287="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692985"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828442325",
      "coordinates": [
        {
          "allele": "G",
          "end": 868,
          "referenceAllele": "A",
          "start": 867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_001371594.1:c.828A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358523.1:p.Leu276="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692986"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828443246",
      "coordinates": [
        {
          "allele": "G",
          "end": 866,
          "referenceAllele": "A",
          "start": 865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_001371595.1:c.693A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358524.1:p.Leu231="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692987"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828444589",
      "coordinates": [
        {
          "allele": "G",
          "end": 1015,
          "referenceAllele": "A",
          "start": 1014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_001371596.2:c.975A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358525.1:p.Leu325="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692988",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000641686.2:c.975A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001371596.2:c.975A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493218.2:p.Leu325="
          },
          "RefSeq": {
            "hgvs": "NP_001358525.1:p.Leu325="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830293868",
      "coordinates": [
        {
          "allele": "G",
          "end": 1117,
          "referenceAllele": "A",
          "start": 1116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_152778.3:c.975A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_689991.1:p.Leu325="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700257"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830293868",
      "coordinates": [
        {
          "allele": "G",
          "end": 1117,
          "referenceAllele": "A",
          "start": 1116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_152778.4:c.975A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_689991.1:p.Leu325="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729430"
    }
  ],
  "type": "nucleotide"
}