{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3077486",
  "communityStandardTitle": [
    "NM_001371596.2(MFSD8):c.416G>A (p.Arg139His)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4122198",
        "active": true,
        "id": "COSM4122198"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=424648[alleleid]",
        "alleleId": 424648,
        "preferredName": "NM_001371596.2(MFSD8):c.416G>A (p.Arg139His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/431131",
        "RCV": [
          "RCV000496155",
          "RCV002222533"
        ],
        "variationId": 431131
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-128864930-C-T",
        "id": "4-128864930-C-T",
        "variant": "4:128864930 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.128864930C>T?assembly=hg19",
        "id": "chr4:g.128864930C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.127943775C>T?assembly=hg38",
        "id": "chr4:g.127943775C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/749704755",
        "rs": 749704755
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-128864930-C-T?dataset=gnomad_r2_1",
        "id": "4-128864930-C-T",
        "variant": "4:128864930 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-127943775-C-T?dataset=gnomad_r3",
        "id": "4-127943775-C-T",
        "variant": "4:127943775 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-127943775-C-T?dataset=gnomad_r4",
        "id": "4-127943775-C-T",
        "variant": "4:127943775 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 127943775,
          "referenceAllele": "C",
          "start": 127943774
        }
      ],
      "hgvs": [
        "NC_000004.12:g.127943775C>T",
        "CM000666.2:g.127943775C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 128864930,
          "referenceAllele": "C",
          "start": 128864929
        }
      ],
      "hgvs": [
        "NC_000004.11:g.128864930C>T",
        "CM000666.1:g.128864930C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 129084380,
          "referenceAllele": "C",
          "start": 129084379
        }
      ],
      "hgvs": [
        "NC_000004.10:g.129084380C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 27210,
          "referenceAllele": "G",
          "start": 27209
        }
      ],
      "hgvs": [
        "NG_008657.1:g.27210G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001150"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 544,
          "referenceAllele": "G",
          "start": 543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000296468.8:c.416G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000296468.3:p.Arg139His",
        "hgvsWellDefined": "ENSP00000296468.3:p.Arg139His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744420"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 632,
          "referenceAllele": "G",
          "start": 631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000505284.6:n.632G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758047"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 431,
          "referenceAllele": "G",
          "start": 430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000508441.2:n.431G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758141"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 474,
          "referenceAllele": "G",
          "start": 473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000509826.2:c.416G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421176.2:p.Arg139His",
        "hgvsWellDefined": "ENSP00000421176.2:p.Arg139His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758193"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 511,
          "referenceAllele": "G",
          "start": 510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000513559.6:c.281G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425000.2:p.Arg94His",
        "hgvsWellDefined": "ENSP00000425000.2:p.Arg94His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758326"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 862,
          "referenceAllele": "G",
          "start": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000515130.6:c.281G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493056.1:p.Arg94His",
        "hgvsWellDefined": "ENSP00000493056.1:p.Arg94His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758377"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 454,
          "referenceAllele": "G",
          "start": 453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641025.1:c.416G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493346.1:p.Arg139His",
        "hgvsWellDefined": "ENSP00000493346.1:p.Arg139His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765790"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 437,
          "referenceAllele": "G",
          "start": 436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641092.1:c.416G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493392.1:p.Arg139His",
        "hgvsWellDefined": "ENSP00000493392.1:p.Arg139His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765837"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 463,
          "referenceAllele": "G",
          "start": 462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641133.1:c.416G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493192.1:p.Arg139His",
        "hgvsWellDefined": "ENSP00000493192.1:p.Arg139His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765868"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 410,
          "referenceAllele": "G",
          "start": 409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641134.1:c.281G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492925.1:p.Arg94His",
        "hgvsWellDefined": "ENSP00000492925.1:p.Arg94His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765869"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 502,
          "referenceAllele": "G",
          "start": 501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641140.1:n.502G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765874"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 442,
          "referenceAllele": "G",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641147.1:c.281G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493133.1:p.Arg94His",
        "hgvsWellDefined": "ENSP00000493133.1:p.Arg94His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765881"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 492,
          "referenceAllele": "G",
          "start": 491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641178.1:c.281G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492989.1:p.Arg94His",
        "hgvsWellDefined": "ENSP00000492989.1:p.Arg94His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765900"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 605,
          "referenceAllele": "G",
          "start": 604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641186.1:c.416G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493347.1:p.Arg139His",
        "hgvsWellDefined": "ENSP00000493347.1:p.Arg139His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765905"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 463,
          "referenceAllele": "G",
          "start": 462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641228.1:c.416G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493194.1:p.Arg139His",
        "hgvsWellDefined": "ENSP00000493194.1:p.Arg139His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765936"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 454,
          "referenceAllele": "G",
          "start": 453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641243.1:c.416G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493083.1:p.Arg139His",
        "hgvsWellDefined": "ENSP00000493083.1:p.Arg139His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765949"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 421,
          "referenceAllele": "G",
          "start": 420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641264.1:c.*213G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492908.1:n.*213G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765963"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 447,
          "referenceAllele": "G",
          "start": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641332.1:c.416G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493397.1:p.Arg139His",
        "hgvsWellDefined": "ENSP00000493397.1:p.Arg139His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 428,
          "referenceAllele": "G",
          "start": 427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641340.1:c.416G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493191.1:p.Arg139His",
        "hgvsWellDefined": "ENSP00000493191.1:p.Arg139His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766015"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 82,
          "endIntronDirection": "-",
          "endIntronOffset": 1616,
          "referenceAllele": "G",
          "start": 82,
          "startIntronDirection": "-",
          "startIntronOffset": 1617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641369.1:c.-65-1617G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493037.1:n.-65-1617G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766035"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 473,
          "referenceAllele": "G",
          "start": 472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641393.1:c.281G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493197.1:p.Arg94His",
        "hgvsWellDefined": "ENSP00000493197.1:p.Arg94His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766053"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 425,
          "referenceAllele": "G",
          "start": 424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641397.1:c.416G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493406.1:p.Arg139His",
        "hgvsWellDefined": "ENSP00000493406.1:p.Arg139His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766056"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 454,
          "referenceAllele": "G",
          "start": 453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641434.1:c.416G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493279.1:p.Arg139His",
        "hgvsWellDefined": "ENSP00000493279.1:p.Arg139His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766079"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 547,
          "referenceAllele": "G",
          "start": 546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641447.1:c.416G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493448.1:p.Arg139His",
        "hgvsWellDefined": "ENSP00000493448.1:p.Arg139His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766089"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 442,
          "referenceAllele": "G",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641464.1:c.281G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493438.1:p.Arg94His",
        "hgvsWellDefined": "ENSP00000493438.1:p.Arg94His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766101"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 431,
          "referenceAllele": "G",
          "start": 430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641482.1:c.416G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493277.1:p.Arg139His",
        "hgvsWellDefined": "ENSP00000493277.1:p.Arg139His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766113"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 428,
          "referenceAllele": "G",
          "start": 427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641503.1:c.416G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493304.1:p.Arg139His",
        "hgvsWellDefined": "ENSP00000493304.1:p.Arg139His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766128"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 431,
          "referenceAllele": "G",
          "start": 430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641508.1:c.416G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493209.1:p.Arg139His",
        "hgvsWellDefined": "ENSP00000493209.1:p.Arg139His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766132"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 454,
          "referenceAllele": "G",
          "start": 453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641509.1:c.416G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493459.1:p.Arg139His",
        "hgvsWellDefined": "ENSP00000493459.1:p.Arg139His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766133"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 262,
          "referenceAllele": "G",
          "start": 261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641538.1:c.262G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766155"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 424,
          "referenceAllele": "G",
          "start": 423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641558.1:c.281G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493335.1:p.Arg94His",
        "hgvsWellDefined": "ENSP00000493335.1:p.Arg94His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766172"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 428,
          "referenceAllele": "G",
          "start": 427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641590.1:c.416G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493132.1:p.Arg139His",
        "hgvsWellDefined": "ENSP00000493132.1:p.Arg139His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766193"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 407,
          "referenceAllele": "G",
          "start": 406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641658.1:c.281G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492987.1:p.Arg94His",
        "hgvsWellDefined": "ENSP00000492987.1:p.Arg94His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766243"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 456,
          "referenceAllele": "G",
          "start": 455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641686.2:c.416G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493218.2:p.Arg139His",
        "hgvsWellDefined": "ENSP00000493218.2:p.Arg139His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766264",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000641686.2:c.416G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001371596.2:c.416G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493218.2:p.Arg139His"
          },
          "RefSeq": {
            "hgvs": "NP_001358525.1:p.Arg139His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 456,
          "referenceAllele": "G",
          "start": 455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641690.1:c.416G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492966.1:p.Arg139His",
        "hgvsWellDefined": "ENSP00000492966.1:p.Arg139His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766268"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 447,
          "referenceAllele": "G",
          "start": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641695.1:c.416G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493134.1:p.Arg139His",
        "hgvsWellDefined": "ENSP00000493134.1:p.Arg139His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766273"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 462,
          "referenceAllele": "G",
          "start": 461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641742.1:c.416G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493315.1:p.Arg139His",
        "hgvsWellDefined": "ENSP00000493315.1:p.Arg139His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766303"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 431,
          "referenceAllele": "G",
          "start": 430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641743.1:c.416G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493130.1:p.Arg139His",
        "hgvsWellDefined": "ENSP00000493130.1:p.Arg139His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766304"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 473,
          "referenceAllele": "G",
          "start": 472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641748.1:c.416G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493330.1:p.Arg139His",
        "hgvsWellDefined": "ENSP00000493330.1:p.Arg139His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766308"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 357,
          "referenceAllele": "G",
          "start": 356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641753.1:c.357G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766311"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 447,
          "referenceAllele": "G",
          "start": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641774.1:c.416G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492960.1:p.Arg139His",
        "hgvsWellDefined": "ENSP00000492960.1:p.Arg139His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766326"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 282,
          "endIntronDirection": "-",
          "endIntronOffset": 1616,
          "referenceAllele": "G",
          "start": 282,
          "startIntronDirection": "-",
          "startIntronOffset": 1617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641776.1:c.199-1617G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493261.1:n.199-1617G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766327"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 407,
          "referenceAllele": "G",
          "start": 406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641843.1:c.281G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493174.1:p.Arg94His",
        "hgvsWellDefined": "ENSP00000493174.1:p.Arg94His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766379"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 431,
          "referenceAllele": "G",
          "start": 430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641870.1:c.416G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493044.1:p.Arg139His",
        "hgvsWellDefined": "ENSP00000493044.1:p.Arg139His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766401"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 534,
          "referenceAllele": "G",
          "start": 533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641882.1:c.416G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493301.1:p.Arg139His",
        "hgvsWellDefined": "ENSP00000493301.1:p.Arg139His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766408"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 421,
          "referenceAllele": "G",
          "start": 420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641928.1:c.281G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493418.1:p.Arg94His",
        "hgvsWellDefined": "ENSP00000493418.1:p.Arg94His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766442"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 447,
          "referenceAllele": "G",
          "start": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641949.1:c.416G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492891.1:p.Arg139His",
        "hgvsWellDefined": "ENSP00000492891.1:p.Arg139His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766455"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 441,
          "referenceAllele": "G",
          "start": 440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000642034.1:c.416G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493285.1:p.Arg139His",
        "hgvsWellDefined": "ENSP00000493285.1:p.Arg139His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766514"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 463,
          "referenceAllele": "G",
          "start": 462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000642042.1:c.416G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493260.1:p.Arg139His",
        "hgvsWellDefined": "ENSP00000493260.1:p.Arg139His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766521"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 445,
          "referenceAllele": "G",
          "start": 444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000642078.1:c.281G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492885.1:p.Arg94His",
        "hgvsWellDefined": "ENSP00000492885.1:p.Arg94His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766546"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 90,
          "endIntronDirection": "-",
          "endIntronOffset": 12957,
          "referenceAllele": "G",
          "start": 90,
          "startIntronDirection": "-",
          "startIntronOffset": 12958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000642121.1:n.91-12958G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766571"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 261,
          "referenceAllele": "G",
          "start": 260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000642143.1:n.261G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766583"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 544,
          "referenceAllele": "G",
          "start": 543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000296468.7:c.416G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000296468.3:p.Arg139His",
        "hgvsWellDefined": "ENSP00000296468.3:p.Arg139His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254307"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 425,
          "referenceAllele": "G",
          "start": 424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000505284.5:n.425G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS337117"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 428,
          "referenceAllele": "G",
          "start": 427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000508441.1:n.428G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS339461"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 396,
          "referenceAllele": "G",
          "start": 395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000509826.1:c.281G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421176.1:p.Arg94His",
        "hgvsWellDefined": "ENSP00000421176.1:p.Arg94His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340504"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 421,
          "referenceAllele": "G",
          "start": 420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000513559.5:c.281G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425000.1:p.Arg94His",
        "hgvsWellDefined": "ENSP00000425000.1:p.Arg94His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS343275"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 862,
          "referenceAllele": "G",
          "start": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000515130.5:n.862G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS344445"
    },
    {
      "@id": "http://reg.genome.network/allele/PA101414",
      "coordinates": [
        {
          "allele": "A",
          "end": 579,
          "referenceAllele": "G",
          "start": 578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_152778.2:c.416G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_689991.1:p.Arg139His",
        "hgvsWellDefined": "NP_689991.1:p.Arg139His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042142"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 493,
          "referenceAllele": "G",
          "start": 492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XM_005262893.1:c.416G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262950.1:p.Arg139His",
        "hgvsWellDefined": "XP_005262950.1:p.Arg139His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063603"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 493,
          "referenceAllele": "G",
          "start": 492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XM_005262896.1:c.416G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262953.1:p.Arg139His",
        "hgvsWellDefined": "XP_005262953.1:p.Arg139His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063604"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 493,
          "referenceAllele": "G",
          "start": 492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XM_005262897.1:c.416G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262954.1:p.Arg139His",
        "hgvsWellDefined": "XP_005262954.1:p.Arg139His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063605"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 493,
          "referenceAllele": "G",
          "start": 492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XM_005262898.2:c.416G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262955.1:p.Arg139His",
        "hgvsWellDefined": "XP_005262955.1:p.Arg139His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063606"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 493,
          "referenceAllele": "G",
          "start": 492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XM_005262900.2:c.416G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262957.1:p.Arg139His",
        "hgvsWellDefined": "XP_005262957.1:p.Arg139His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063607"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 493,
          "referenceAllele": "G",
          "start": 492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XM_011531830.1:c.416G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530132.1:p.Arg139His",
        "hgvsWellDefined": "XP_011530132.1:p.Arg139His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098862"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 493,
          "referenceAllele": "G",
          "start": 492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XM_011531831.1:c.416G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530133.1:p.Arg139His",
        "hgvsWellDefined": "XP_011530133.1:p.Arg139His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098863"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 493,
          "referenceAllele": "G",
          "start": 492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XM_011531832.1:c.416G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530134.1:p.Arg139His",
        "hgvsWellDefined": "XP_011530134.1:p.Arg139His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098864"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 493,
          "referenceAllele": "G",
          "start": 492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XR_938717.1:n.493G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133415"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828088257",
      "coordinates": [
        {
          "allele": "A",
          "end": 538,
          "referenceAllele": "G",
          "start": 537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_001363520.1:c.416G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350449.1:p.Arg139His",
        "hgvsWellDefined": "NP_001350449.1:p.Arg139His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523347"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828088733",
      "coordinates": [
        {
          "allele": "A",
          "end": 538,
          "referenceAllele": "G",
          "start": 537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_001363521.1:c.416G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350450.1:p.Arg139His",
        "hgvsWellDefined": "NP_001350450.1:p.Arg139His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523348"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 493,
          "referenceAllele": "G",
          "start": 492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XM_005262898.3:c.416G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262955.1:p.Arg139His",
        "hgvsWellDefined": "XP_005262955.1:p.Arg139His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535566"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 493,
          "referenceAllele": "G",
          "start": 492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XM_017007989.1:c.416G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863478.1:p.Arg139His",
        "hgvsWellDefined": "XP_016863478.1:p.Arg139His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562614"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 490,
          "referenceAllele": "G",
          "start": 489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XM_024453981.1:c.281G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309749.1:p.Arg94His",
        "hgvsWellDefined": "XP_024309749.1:p.Arg94His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587353"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 446,
          "referenceAllele": "G",
          "start": 445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XM_024453982.1:c.281G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309750.1:p.Arg94His",
        "hgvsWellDefined": "XP_024309750.1:p.Arg94His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587354"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 446,
          "referenceAllele": "G",
          "start": 445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XM_024453983.1:c.281G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309751.1:p.Arg94His",
        "hgvsWellDefined": "XP_024309751.1:p.Arg94His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587355"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 493,
          "referenceAllele": "G",
          "start": 492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XR_001741194.1:n.493G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591232"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 493,
          "referenceAllele": "G",
          "start": 492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XR_001741195.1:n.493G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591233"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 493,
          "referenceAllele": "G",
          "start": 492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XR_001741196.1:n.493G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591234"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 493,
          "referenceAllele": "G",
          "start": 492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XR_001741197.1:n.493G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591235"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 493,
          "referenceAllele": "G",
          "start": 492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XR_001741198.2:n.493G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591236"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 493,
          "referenceAllele": "G",
          "start": 492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XR_001741199.1:n.493G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591237"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 493,
          "referenceAllele": "G",
          "start": 492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XR_938717.2:n.493G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS612030"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828088257",
      "coordinates": [
        {
          "allele": "A",
          "end": 456,
          "referenceAllele": "G",
          "start": 455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_001363520.2:c.416G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350449.1:p.Arg139His",
        "hgvsWellDefined": "NP_001350449.1:p.Arg139His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690673"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828088733",
      "coordinates": [
        {
          "allele": "A",
          "end": 456,
          "referenceAllele": "G",
          "start": 455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_001363521.2:c.416G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350450.1:p.Arg139His",
        "hgvsWellDefined": "NP_001350450.1:p.Arg139His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690674"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828492316",
      "coordinates": [
        {
          "allele": "A",
          "end": 421,
          "referenceAllele": "G",
          "start": 420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_001371590.1:c.281G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358519.1:p.Arg94His",
        "hgvsWellDefined": "NP_001358519.1:p.Arg94His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692982"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828492852",
      "coordinates": [
        {
          "allele": "A",
          "end": 456,
          "referenceAllele": "G",
          "start": 455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_001371591.1:c.416G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358520.1:p.Arg139His",
        "hgvsWellDefined": "NP_001358520.1:p.Arg139His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692983"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828440414",
      "coordinates": [
        {
          "allele": "A",
          "end": 456,
          "referenceAllele": "G",
          "start": 455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_001371592.1:c.416G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358521.1:p.Arg139His",
        "hgvsWellDefined": "NP_001358521.1:p.Arg139His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692984"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828440901",
      "coordinates": [
        {
          "allele": "A",
          "end": 456,
          "referenceAllele": "G",
          "start": 455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_001371593.1:c.416G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358522.1:p.Arg139His",
        "hgvsWellDefined": "NP_001358522.1:p.Arg139His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692985"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828441979",
      "coordinates": [
        {
          "allele": "A",
          "end": 456,
          "referenceAllele": "G",
          "start": 455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_001371594.1:c.416G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358523.1:p.Arg139His",
        "hgvsWellDefined": "NP_001358523.1:p.Arg139His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692986"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573072417",
      "coordinates": [
        {
          "allele": "A",
          "end": 454,
          "referenceAllele": "G",
          "start": 453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_001371595.1:c.281G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358524.1:p.Arg94His",
        "hgvsWellDefined": "NP_001358524.1:p.Arg94His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692987"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828444176",
      "coordinates": [
        {
          "allele": "A",
          "end": 456,
          "referenceAllele": "G",
          "start": 455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_001371596.2:c.416G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358525.1:p.Arg139His",
        "hgvsWellDefined": "NP_001358525.1:p.Arg139His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692988",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000641686.2:c.416G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001371596.2:c.416G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493218.2:p.Arg139His"
          },
          "RefSeq": {
            "hgvs": "NP_001358525.1:p.Arg139His"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA101414",
      "coordinates": [
        {
          "allele": "A",
          "end": 558,
          "referenceAllele": "G",
          "start": 557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_152778.3:c.416G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_689991.1:p.Arg139His",
        "hgvsWellDefined": "NP_689991.1:p.Arg139His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700257"
    },
    {
      "@id": "http://reg.genome.network/allele/PA101414",
      "coordinates": [
        {
          "allele": "A",
          "end": 558,
          "referenceAllele": "G",
          "start": 557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_152778.4:c.416G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_689991.1:p.Arg139His",
        "hgvsWellDefined": "NP_689991.1:p.Arg139His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729430"
    }
  ],
  "type": "nucleotide"
}