{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16041755",
  "communityStandardTitle": [
    "NM_000137.4(FAH):c.455G>A (p.Trp152Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=358330[alleleid]",
        "alleleId": 358330,
        "preferredName": "NM_000137.4(FAH):c.455G>A (p.Trp152Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/370677",
        "RCV": [
          "RCV000409617"
        ],
        "variationId": 370677
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.80454678G>A?assembly=hg19",
        "id": "chr15:g.80454678G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.80162336G>A?assembly=hg38",
        "id": "chr15:g.80162336G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057516679",
        "rs": 1057516679
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 80162336,
          "referenceAllele": "G",
          "start": 80162335
        }
      ],
      "hgvs": [
        "NC_000015.10:g.80162336G>A",
        "CM000677.2:g.80162336G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 80454678,
          "referenceAllele": "G",
          "start": 80454677
        }
      ],
      "hgvs": [
        "NC_000015.9:g.80454678G>A",
        "CM000677.1:g.80454678G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 78241733,
          "referenceAllele": "G",
          "start": 78241732
        }
      ],
      "hgvs": [
        "NC_000015.8:g.78241733G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14338,
          "referenceAllele": "G",
          "start": 14337
        }
      ],
      "hgvs": [
        "NG_012833.1:g.14338G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002566"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 716,
          "referenceAllele": "G",
          "start": 715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003579",
      "geneNCBI_id": 2184,
      "geneSymbol": "FAH",
      "hgvs": [
        "ENST00000558767.6:c.455G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507680.1:p.Trp152Ter",
        "hgvsWellDefined": "ENSP00000507680.1:p.Trp152_Ala160delinsTyrGluLeuGlyGlnMetSerAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826065"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 530,
          "referenceAllele": "G",
          "start": 529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003579",
      "geneNCBI_id": 2184,
      "geneSymbol": "FAH",
      "hgvs": [
        "ENST00000682012.1:n.530G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827010"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2118,
          "referenceAllele": "G",
          "start": 2117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003579",
      "geneNCBI_id": 2184,
      "geneSymbol": "FAH",
      "hgvs": [
        "ENST00000683593.1:n.2118G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828565"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 364,
          "endIntronDirection": "-",
          "endIntronOffset": 55,
          "referenceAllele": "G",
          "start": 364,
          "startIntronDirection": "-",
          "startIntronOffset": 56
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003579",
      "geneNCBI_id": 2184,
      "geneSymbol": "FAH",
      "hgvs": [
        "ENST00000684363.1:c.365-56G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507314.1:n.365-56G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829318"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 500,
          "referenceAllele": "G",
          "start": 499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003579",
      "geneNCBI_id": 2184,
      "geneSymbol": "FAH",
      "hgvs": [
        "ENST00000684569.1:n.500G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829522"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 511,
          "referenceAllele": "G",
          "start": 510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003579",
      "geneNCBI_id": 2184,
      "geneSymbol": "FAH",
      "hgvs": [
        "ENST00000561421.6:c.455G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453347.2:p.Trp152Ter",
        "hgvsWellDefined": "ENSP00000453347.2:p.Trp152_Ser419delinsLeuHisLeuProValGlyTyrHisGlyArgAlaSerSerValValValSerGlyThrProIleArgArgProMetGlyGlnMetLysProAspAspSerLysProProValTyrGlyAlaCysLysLeuLeuAspMetGluLeuGluMetAlaPhePheValGlyProGlyAsnArgLeuGlyGluProIleProIleSerLysAlaHisGluHisIlePheGlyMetValLeuMetAsnAspTrpSerAlaArgAspIleGlnLysTrpGluTyrValProLeuGlyProPheLeuGlyLysSerPheGlyThrThrValSerProTrpValValProMetAspAlaLeuMetProPheAlaValProAsnProLysGlnAspProArgProLeuProTyrLeuCysHisAspGluProTyrThrPheAspIleAsnLeuSerValAsnLeuLysGlyGluGlyMetSerGlnAlaAlaThrIleCysLysSerAsnPheLysTyrMetTyrTrpThrMetLeuGlnGlnLeuThrHisHisSerValAsnGlyCysAsnLeuArgProGlyAspLeuLeuAlaSerGlyThrIleSerGlyProGluProGluAsnPheGlySerMetLeuGluLeuSerTrpLysGlyThrLysProIleAspLeuGlyAsnGlyGlnThrArgLysPheLeuLeuAspGlyAspGluValIleIleThrGlyTyrCysGlnGlyAspGlyTyrArgIleGlyPheGlyGlnCysAlaGlyLysValLeuProAlaLeuLeuProSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760323",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000561421.6:c.455G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000137.4:c.455G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000453347.2:p.Trp152Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000128.1:p.Trp152Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1942,
          "referenceAllele": "G",
          "start": 1941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003579",
      "geneNCBI_id": 2184,
      "geneSymbol": "FAH",
      "hgvs": [
        "ENST00000646551.1:n.1942G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768934"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 532,
          "referenceAllele": "G",
          "start": 531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003579",
      "geneNCBI_id": 2184,
      "geneSymbol": "FAH",
      "hgvs": [
        "ENST00000261755.9:c.455G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261755.5:p.Trp152Ter",
        "hgvsWellDefined": "ENSP00000261755.5:p.Trp152_Ser419delinsLeuHisLeuProValGlyTyrHisGlyArgAlaSerSerValValValSerGlyThrProIleArgArgProMetGlyGlnMetLysProAspAspSerLysProProValTyrGlyAlaCysLysLeuLeuAspMetGluLeuGluMetAlaPhePheValGlyProGlyAsnArgLeuGlyGluProIleProIleSerLysAlaHisGluHisIlePheGlyMetValLeuMetAsnAspTrpSerAlaArgAspIleGlnLysTrpGluTyrValProLeuGlyProPheLeuGlyLysSerPheGlyThrThrValSerProTrpValValProMetAspAlaLeuMetProPheAlaValProAsnProLysGlnAspProArgProLeuProTyrLeuCysHisAspGluProTyrThrPheAspIleAsnLeuSerValAsnLeuLysGlyGluGlyMetSerGlnAlaAlaThrIleCysLysSerAsnPheLysTyrMetTyrTrpThrMetLeuGlnGlnLeuThrHisHisSerValAsnGlyCysAsnLeuArgProGlyAspLeuLeuAlaSerGlyThrIleSerGlyProGluProGluAsnPheGlySerMetLeuGluLeuSerTrpLysGlyThrLysProIleAspLeuGlyAsnGlyGlnThrArgLysPheLeuLeuAspGlyAspGluValIleIleThrGlyTyrCysGlnGlyAspGlyTyrArgIleGlyPheGlyGlnCysAlaGlyLysValLeuProAlaLeuLeuProSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250837"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 610,
          "referenceAllele": "G",
          "start": 609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003579",
      "geneNCBI_id": 2184,
      "geneSymbol": "FAH",
      "hgvs": [
        "ENST00000407106.5:c.455G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385080.1:p.Trp152Ter",
        "hgvsWellDefined": "ENSP00000385080.1:p.Trp152_Ser419delinsLeuHisLeuProValGlyTyrHisGlyArgAlaSerSerValValValSerGlyThrProIleArgArgProMetGlyGlnMetLysProAspAspSerLysProProValTyrGlyAlaCysLysLeuLeuAspMetGluLeuGluMetAlaPhePheValGlyProGlyAsnArgLeuGlyGluProIleProIleSerLysAlaHisGluHisIlePheGlyMetValLeuMetAsnAspTrpSerAlaArgAspIleGlnLysTrpGluTyrValProLeuGlyProPheLeuGlyLysSerPheGlyThrThrValSerProTrpValValProMetAspAlaLeuMetProPheAlaValProAsnProLysGlnAspProArgProLeuProTyrLeuCysHisAspGluProTyrThrPheAspIleAsnLeuSerValAsnLeuLysGlyGluGlyMetSerGlnAlaAlaThrIleCysLysSerAsnPheLysTyrMetTyrTrpThrMetLeuGlnGlnLeuThrHisHisSerValAsnGlyCysAsnLeuArgProGlyAspLeuLeuAlaSerGlyThrIleSerGlyProGluProGluAsnPheGlySerMetLeuGluLeuSerTrpLysGlyThrLysProIleAspLeuGlyAsnGlyGlnThrArgLysPheLeuLeuAspGlyAspGluValIleIleThrGlyTyrCysGlnGlyAspGlyTyrArgIleGlyPheGlyGlnCysAlaGlyLysValLeuProAlaLeuLeuProSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280838"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 601,
          "referenceAllele": "G",
          "start": 600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003579",
      "geneNCBI_id": 2184,
      "geneSymbol": "FAH",
      "hgvs": [
        "ENST00000537726.5:n.601G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS360929"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2483,
          "referenceAllele": "G",
          "start": 2482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003579",
      "geneNCBI_id": 2184,
      "geneSymbol": "FAH",
      "hgvs": [
        "ENST00000539156.5:c.245G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454271.1:p.Trp82Ter",
        "hgvsWellDefined": "ENSP00000454271.1:p.Trp82_Ser349delinsLeuHisLeuProValGlyTyrHisGlyArgAlaSerSerValValValSerGlyThrProIleArgArgProMetGlyGlnMetLysProAspAspSerLysProProValTyrGlyAlaCysLysLeuLeuAspMetGluLeuGluMetAlaPhePheValGlyProGlyAsnArgLeuGlyGluProIleProIleSerLysAlaHisGluHisIlePheGlyMetValLeuMetAsnAspTrpSerAlaArgAspIleGlnLysTrpGluTyrValProLeuGlyProPheLeuGlyLysSerPheGlyThrThrValSerProTrpValValProMetAspAlaLeuMetProPheAlaValProAsnProLysGlnAspProArgProLeuProTyrLeuCysHisAspGluProTyrThrPheAspIleAsnLeuSerValAsnLeuLysGlyGluGlyMetSerGlnAlaAlaThrIleCysLysSerAsnPheLysTyrMetTyrTrpThrMetLeuGlnGlnLeuThrHisHisSerValAsnGlyCysAsnLeuArgProGlyAspLeuLeuAlaSerGlyThrIleSerGlyProGluProGluAsnPheGlySerMetLeuGluLeuSerTrpLysGlyThrLysProIleAspLeuGlyAsnGlyGlnThrArgLysPheLeuLeuAspGlyAspGluValIleIleThrGlyTyrCysGlnGlyAspGlyTyrArgIleGlyPheGlyGlnCysAlaGlyLysValLeuProAlaLeuLeuProSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361702"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 540,
          "referenceAllele": "G",
          "start": 539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003579",
      "geneNCBI_id": 2184,
      "geneSymbol": "FAH",
      "hgvs": [
        "ENST00000558022.5:c.455G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453152.1:p.Trp152Ter",
        "hgvsWellDefined": "ENSP00000453152.1:p.Trp152_Gly161del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373494"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 383,
          "referenceAllele": "G",
          "start": 382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003579",
      "geneNCBI_id": 2184,
      "geneSymbol": "FAH",
      "hgvs": [
        "ENST00000558627.1:n.383G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS373947"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 716,
          "referenceAllele": "G",
          "start": 715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003579",
      "geneNCBI_id": 2184,
      "geneSymbol": "FAH",
      "hgvs": [
        "ENST00000558767.5:n.716G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS374052"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 599,
          "referenceAllele": "G",
          "start": 598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003579",
      "geneNCBI_id": 2184,
      "geneSymbol": "FAH",
      "hgvs": [
        "ENST00000561369.1:n.599G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS376057"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 613,
          "referenceAllele": "G",
          "start": 612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003579",
      "geneNCBI_id": 2184,
      "geneSymbol": "FAH",
      "hgvs": [
        "ENST00000561421.5:c.455G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453347.1:p.Trp152Ter",
        "hgvsWellDefined": "ENSP00000453347.1:p.Trp152_Ser419delinsLeuHisLeuProValGlyTyrHisGlyArgAlaSerSerValValValSerGlyThrProIleArgArgProMetGlyGlnMetLysProAspAspSerLysProProValTyrGlyAlaCysLysLeuLeuAspMetGluLeuGluMetAlaPhePheValGlyProGlyAsnArgLeuGlyGluProIleProIleSerLysAlaHisGluHisIlePheGlyMetValLeuMetAsnAspTrpSerAlaArgAspIleGlnLysTrpGluTyrValProLeuGlyProPheLeuGlyLysSerPheGlyThrThrValSerProTrpValValProMetAspAlaLeuMetProPheAlaValProAsnProLysGlnAspProArgProLeuProTyrLeuCysHisAspGluProTyrThrPheAspIleAsnLeuSerValAsnLeuLysGlyGluGlyMetSerGlnAlaAlaThrIleCysLysSerAsnPheLysTyrMetTyrTrpThrMetLeuGlnGlnLeuThrHisHisSerValAsnGlyCysAsnLeuArgProGlyAspLeuLeuAlaSerGlyThrIleSerGlyProGluProGluAsnPheGlySerMetLeuGluLeuSerTrpLysGlyThrLysProIleAspLeuGlyAsnGlyGlnThrArgLysPheLeuLeuAspGlyAspGluValIleIleThrGlyTyrCysGlnGlyAspGlyTyrArgIleGlyPheGlyGlnCysAlaGlyLysValLeuProAlaLeuLeuProSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS376096"
    },
    {
      "@id": "http://reg.genome.network/allele/PA220371",
      "coordinates": [
        {
          "allele": "A",
          "end": 619,
          "referenceAllele": "G",
          "start": 618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003579",
      "geneNCBI_id": 2184,
      "geneSymbol": "FAH",
      "hgvs": [
        "NM_000137.2:c.455G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000128.1:p.Trp152Ter",
        "hgvsWellDefined": "NP_000128.1:p.Trp152_Ser419delinsLeuHisLeuProValGlyTyrHisGlyArgAlaSerSerValValValSerGlyThrProIleArgArgProMetGlyGlnMetLysProAspAspSerLysProProValTyrGlyAlaCysLysLeuLeuAspMetGluLeuGluMetAlaPhePheValGlyProGlyAsnArgLeuGlyGluProIleProIleSerLysAlaHisGluHisIlePheGlyMetValLeuMetAsnAspTrpSerAlaArgAspIleGlnLysTrpGluTyrValProLeuGlyProPheLeuGlyLysSerPheGlyThrThrValSerProTrpValValProMetAspAlaLeuMetProPheAlaValProAsnProLysGlnAspProArgProLeuProTyrLeuCysHisAspGluProTyrThrPheAspIleAsnLeuSerValAsnLeuLysGlyGluGlyMetSerGlnAlaAlaThrIleCysLysSerAsnPheLysTyrMetTyrTrpThrMetLeuGlnGlnLeuThrHisHisSerValAsnGlyCysAsnLeuArgProGlyAspLeuLeuAlaSerGlyThrIleSerGlyProGluProGluAsnPheGlySerMetLeuGluLeuSerTrpLysGlyThrLysProIleAspLeuGlyAsnGlyGlnThrArgLysPheLeuLeuAspGlyAspGluValIleIleThrGlyTyrCysGlnGlyAspGlyTyrArgIleGlyPheGlyGlnCysAlaGlyLysValLeuProAlaLeuLeuProSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006199"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 567,
          "referenceAllele": "G",
          "start": 566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003579",
      "geneNCBI_id": 2184,
      "geneSymbol": "FAH",
      "hgvs": [
        "XM_024449872.1:c.455G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305640.1:p.Trp152Ter",
        "hgvsWellDefined": "XP_024305640.1:p.Trp152_Ser419delinsLeuHisLeuProValGlyTyrHisGlyArgAlaSerSerValValValSerGlyThrProIleArgArgProMetGlyGlnMetLysProAspAspSerLysProProValTyrGlyAlaCysLysLeuLeuAspMetGluLeuGluMetAlaPhePheValGlyProGlyAsnArgLeuGlyGluProIleProIleSerLysAlaHisGluHisIlePheGlyMetValLeuMetAsnAspTrpSerAlaArgAspIleGlnLysTrpGluTyrValProLeuGlyProPheLeuGlyLysSerPheGlyThrThrValSerProTrpValValProMetAspAlaLeuMetProPheAlaValProAsnProLysGlnAspProArgProLeuProTyrLeuCysHisAspGluProTyrThrPheAspIleAsnLeuSerValAsnLeuLysGlyGluGlyMetSerGlnAlaAlaThrIleCysLysSerAsnPheLysTyrMetTyrTrpThrMetLeuGlnGlnLeuThrHisHisSerValAsnGlyCysAsnLeuArgProGlyAspLeuLeuAlaSerGlyThrIleSerGlyProGluProGluAsnPheGlySerMetLeuGluLeuSerTrpLysGlyThrLysProIleAspLeuGlyAsnGlyGlnThrArgLysPheLeuLeuAspGlyAspGluValIleIleThrGlyTyrCysGlnGlyAspGlyTyrArgIleGlyPheGlyGlnCysAlaGlyLysValLeuProAlaLeuLeuProSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583414"
    },
    {
      "@id": "http://reg.genome.network/allele/PA220371",
      "coordinates": [
        {
          "allele": "A",
          "end": 511,
          "referenceAllele": "G",
          "start": 510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003579",
      "geneNCBI_id": 2184,
      "geneSymbol": "FAH",
      "hgvs": [
        "NM_000137.4:c.455G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000128.1:p.Trp152Ter",
        "hgvsWellDefined": "NP_000128.1:p.Trp152_Ser419delinsLeuHisLeuProValGlyTyrHisGlyArgAlaSerSerValValValSerGlyThrProIleArgArgProMetGlyGlnMetLysProAspAspSerLysProProValTyrGlyAlaCysLysLeuLeuAspMetGluLeuGluMetAlaPhePheValGlyProGlyAsnArgLeuGlyGluProIleProIleSerLysAlaHisGluHisIlePheGlyMetValLeuMetAsnAspTrpSerAlaArgAspIleGlnLysTrpGluTyrValProLeuGlyProPheLeuGlyLysSerPheGlyThrThrValSerProTrpValValProMetAspAlaLeuMetProPheAlaValProAsnProLysGlnAspProArgProLeuProTyrLeuCysHisAspGluProTyrThrPheAspIleAsnLeuSerValAsnLeuLysGlyGluGlyMetSerGlnAlaAlaThrIleCysLysSerAsnPheLysTyrMetTyrTrpThrMetLeuGlnGlnLeuThrHisHisSerValAsnGlyCysAsnLeuArgProGlyAspLeuLeuAlaSerGlyThrIleSerGlyProGluProGluAsnPheGlySerMetLeuGluLeuSerTrpLysGlyThrLysProIleAspLeuGlyAsnGlyGlnThrArgLysPheLeuLeuAspGlyAspGluValIleIleThrGlyTyrCysGlnGlyAspGlyTyrArgIleGlyPheGlyGlnCysAlaGlyLysValLeuProAlaLeuLeuProSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674721",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000561421.6:c.455G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000137.4:c.455G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000453347.2:p.Trp152Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000128.1:p.Trp152Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828508871",
      "coordinates": [
        {
          "allele": "A",
          "end": 601,
          "referenceAllele": "G",
          "start": 600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003579",
      "geneNCBI_id": 2184,
      "geneSymbol": "FAH",
      "hgvs": [
        "NM_001374377.1:c.455G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361306.1:p.Trp152Ter",
        "hgvsWellDefined": "NP_001361306.1:p.Trp152_Ser419delinsLeuHisLeuProValGlyTyrHisGlyArgAlaSerSerValValValSerGlyThrProIleArgArgProMetGlyGlnMetLysProAspAspSerLysProProValTyrGlyAlaCysLysLeuLeuAspMetGluLeuGluMetAlaPhePheValGlyProGlyAsnArgLeuGlyGluProIleProIleSerLysAlaHisGluHisIlePheGlyMetValLeuMetAsnAspTrpSerAlaArgAspIleGlnLysTrpGluTyrValProLeuGlyProPheLeuGlyLysSerPheGlyThrThrValSerProTrpValValProMetAspAlaLeuMetProPheAlaValProAsnProLysGlnAspProArgProLeuProTyrLeuCysHisAspGluProTyrThrPheAspIleAsnLeuSerValAsnLeuLysGlyGluGlyMetSerGlnAlaAlaThrIleCysLysSerAsnPheLysTyrMetTyrTrpThrMetLeuGlnGlnLeuThrHisHisSerValAsnGlyCysAsnLeuArgProGlyAspLeuLeuAlaSerGlyThrIleSerGlyProGluProGluAsnPheGlySerMetLeuGluLeuSerTrpLysGlyThrLysProIleAspLeuGlyAsnGlyGlnThrArgLysPheLeuLeuAspGlyAspGluValIleIleThrGlyTyrCysGlnGlyAspGlyTyrArgIleGlyPheGlyGlnCysAlaGlyLysValLeuProAlaLeuLeuProSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693249"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573072887",
      "coordinates": [
        {
          "allele": "A",
          "end": 537,
          "referenceAllele": "G",
          "start": 536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003579",
      "geneNCBI_id": 2184,
      "geneSymbol": "FAH",
      "hgvs": [
        "NM_001374380.1:c.455G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361309.1:p.Trp152Ter",
        "hgvsWellDefined": "NP_001361309.1:p.Trp152_Ser419delinsLeuHisLeuProValGlyTyrHisGlyArgAlaSerSerValValValSerGlyThrProIleArgArgProMetGlyGlnMetLysProAspAspSerLysProProValTyrGlyAlaCysLysLeuLeuAspMetGluLeuGluMetAlaPhePheValGlyProGlyAsnArgLeuGlyGluProIleProIleSerLysAlaHisGluHisIlePheGlyMetValLeuMetAsnAspTrpSerAlaArgAspIleGlnLysTrpGluTyrValProLeuGlyProPheLeuGlyLysSerPheGlyThrThrValSerProTrpValValProMetAspAlaLeuMetProPheAlaValProAsnProLysGlnAspProArgProLeuProTyrLeuCysHisAspGluProTyrThrPheAspIleAsnLeuSerValAsnLeuLysGlyGluGlyMetSerGlnAlaAlaThrIleCysLysSerAsnPheLysTyrMetTyrTrpThrMetLeuGlnGlnLeuThrHisHisSerValAsnGlyCysAsnLeuArgProGlyAspLeuLeuAlaSerGlyThrIleSerGlyProGluProGluAsnPheGlySerMetLeuGluLeuSerTrpLysGlyThrLysProIleAspLeuGlyAsnGlyGlnThrArgLysPheLeuLeuAspGlyAspGluValIleIleThrGlyTyrCysGlnGlyAspGlyTyrArgIleGlyPheGlyGlnCysAlaGlyLysValLeuProAlaLeuLeuProSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693250"
    }
  ],
  "type": "nucleotide"
}