{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA121147",
  "communityStandardTitle": [
    "NM_152424.4(AMER1):c.1057C>T (p.Arg353Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=28714",
        "active": true,
        "id": "COSM28714"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=296684",
        "active": true,
        "id": "COSM296684"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=25746[alleleid]",
        "alleleId": 25746,
        "preferredName": "NM_152424.4(AMER1):c.1057C>T (p.Arg353Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/10707",
        "RCV": [
          "RCV000011453",
          "RCV002266900"
        ],
        "variationId": 10707
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.63412110G>A?assembly=hg19",
        "id": "chrX:g.63412110G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.64192230G>A?assembly=hg38",
        "id": "chrX:g.64192230G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/137852216",
        "rs": 137852216
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-64192230-G-A?dataset=gnomad_r4",
        "id": "X-64192230-G-A",
        "variant": "X:64192230 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 64192230,
          "referenceAllele": "G",
          "start": 64192229
        }
      ],
      "hgvs": [
        "NC_000023.11:g.64192230G>A",
        "CM000685.2:g.64192230G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 63412110,
          "referenceAllele": "G",
          "start": 63412109
        }
      ],
      "hgvs": [
        "NC_000023.10:g.63412110G>A",
        "CM000685.1:g.63412110G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 63328835,
          "referenceAllele": "G",
          "start": 63328834
        }
      ],
      "hgvs": [
        "NC_000023.9:g.63328835G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 18515,
          "referenceAllele": "C",
          "start": 18514
        }
      ],
      "hgvs": [
        "NG_021345.1:g.18515C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003585"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1294,
          "referenceAllele": "C",
          "start": 1293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026837",
      "geneNCBI_id": 139285,
      "geneSymbol": "AMER1",
      "hgvs": [
        "ENST00000374869.8:c.1057C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364003.4:p.Arg353Ter",
        "hgvsWellDefined": "ENSP00000364003.4:p.Arg353_Lys1135delinsAspGlyThrLysArgSerSerCysLeuValThrTyrGlnGlyGlyGlyGluGluMetAlaLeuProAspAspAspAspGluGluGluGluGluGluGluGluValGluLeuGluGluGluGluGluGluValLysGluGluGluGluAspAspAspLeuGluTyrLeuTrpGluThrAlaGlnMetTyrProArgProAsnMetAsnLeuGlyTyrHisProThrThrSerProGlyHisHisGlyTyrMetLeuLeuAspProValArgSerTyrProGlyLeuAlaProGlyGluLeuLeuThrProGlnSerAspGlnGlnGluSerAlaProAsnSerAspGluGlyTyrTyrAspSerThrThrProGlyPheGluAspAspSerGlyGluAlaLeuGlyLeuValArgArgAspCysLeuProArgAspSerTyrSerGlyAspAlaLeuTyrGluPheTyrGluProAspAspSerLeuGluAsnSerProProGlyAspAspCysLeuTyrAspLeuHisGlyArgSerSerGluMetPheAspProPheLeuAsnPheGluProPheLeuSerSerArgProProGlyAlaMetGluThrGluGluGluArgLeuValThrIleGlnLysGlnLeuLeuTyrTrpGluLeuArgArgGluGlnLeuGluAlaGlnGluAlaArgAlaArgGluAlaHisAlaArgGluAlaHisAlaArgGluAlaTyrThrArgGluAlaTyrGlyArgGluAlaTyrAlaArgGluAlaHisThrTrpGluAlaHisGlyArgGluAlaArgThrArgGluAlaGlnAlaArgGluValArgCysArgGluThrGlnValArgGluThrGlnAlaArgGlnGluLysProValLeuGluTyrGlnMetArgProLeuGlyProSerValMetGlyLeuAlaAlaGlyValSerGlyThrSerGlnIleSerHisArgGlyIleThrSerAlaPheProThrThrAlaSerSerGluProAspTrpArgAspPheArgProLeuGluLysArgTyrGluGlyThrCysSerLysLysAspGlnSerThrCysLeuMetGlnLeuPheGlnSerAspAlaMetPheGluProAspMetGlnGluAlaAsnPheGlyGlySerProArgArgAlaTyrProThrTyrSerProProGluAspProGluGluGluGluValGluLysGluGlyAsnAlaThrValSerPheSerGlnAlaLeuValGluPheThrSerAsnGlyAsnLeuPheSerSerMetSerCysSerSerAspSerAspSerSerPheThrGlnAsnLeuProGluLeuProProMetValThrPheAspIleAlaAspValGluArgAspGlyGluGlyLysCysGluGluAsnProGluPheHisAsnAspGluAspLeuAlaAlaSerLeuGluAlaPheGluLeuGlyTyrTyrHisLysHisAlaPheAsnAsnTyrHisSerArgPheTyrGlnGlyLeuProTrpGlyValSerSerLeuProArgTyrLeuGlyLeuProGlyLeuHisProArgProProProAlaAlaMetAlaLeuAsnArgArgSerArgSerLeuAspThrAlaGluThrLeuGluMetGluLeuSerAsnSerHisLeuValGlnGlyTyrLeuGluSerAspGluLeuGlnAlaGlnGlnGluAspSerAspGluGluAspGluGluGluGluGluGlyGluTrpSerArgAspSerProLeuSerLeuTyrThrGluProProGlyAlaTyrAspTrpProAlaTrpAlaProCysProLeuProValGlyProGlyProAlaTrpIleSerProAsnGlnLeuAspArgProSerSerGlnSerProTyrArgGlnAlaThrCysCysIleProProMetThrMetSerIleSerLeuSerValProGluSerArgAlaProGlyGluSerGlyProGlnLeuAlaArgProSerHisLeuHisLeuProMetGlyProCysTyrAsnLeuGlnProGlnAlaSerGlnSerMetArgAlaArgProArgAspValLeuLeuProValAspGluProSerCysSerSerSerSerGlyGlyPheSerProSerProLeuProGlnAlaLysProValGlyIleThrHisGlyIleProGlnLeuProArgValArgProGluHisProGlnProGlnProThrHisTyrGlyProSerSerLeuAspLeuSerLysGluArgAlaGluGlnGlyAlaSerLeuAlaThrSerTyrSerSerThrAlaMetAsnGlyAsnLeuAlaLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751515",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374869.8:c.1057C>T"
          },
          "RefSeq": {
            "hgvs": "NM_152424.4:c.1057C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364003.4:p.Arg353Ter"
          },
          "RefSeq": {
            "hgvs": "NP_689637.3:p.Arg353Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1330,
          "referenceAllele": "C",
          "start": 1329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026837",
      "geneNCBI_id": 139285,
      "geneSymbol": "AMER1",
      "hgvs": [
        "ENST00000330258.3:c.1057C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000329117.3:p.Arg353Ter",
        "hgvsWellDefined": "ENSP00000329117.3:p.Arg353_Lys1135delinsAspGlyThrLysArgSerSerCysLeuValThrTyrGlnGlyGlyGlyGluGluMetAlaLeuProAspAspAspAspGluGluGluGluGluGluGluGluValGluLeuGluGluGluGluGluGluValLysGluGluGluGluAspAspAspLeuGluTyrLeuTrpGluThrAlaGlnMetTyrProArgProAsnMetAsnLeuGlyTyrHisProThrThrSerProGlyHisHisGlyTyrMetLeuLeuAspProValArgSerTyrProGlyLeuAlaProGlyGluLeuLeuThrProGlnSerAspGlnGlnGluSerAlaProAsnSerAspGluGlyTyrTyrAspSerThrThrProGlyPheGluAspAspSerGlyGluAlaLeuGlyLeuValArgArgAspCysLeuProArgAspSerTyrSerGlyAspAlaLeuTyrGluPheTyrGluProAspAspSerLeuGluAsnSerProProGlyAspAspCysLeuTyrAspLeuHisGlyArgSerSerGluMetPheAspProPheLeuAsnPheGluProPheLeuSerSerArgProProGlyAlaMetGluThrGluGluGluArgLeuValThrIleGlnLysGlnLeuLeuTyrTrpGluLeuArgArgGluGlnLeuGluAlaGlnGluAlaArgAlaArgGluAlaHisAlaArgGluAlaHisAlaArgGluAlaTyrThrArgGluAlaTyrGlyArgGluAlaTyrAlaArgGluAlaHisThrTrpGluAlaHisGlyArgGluAlaArgThrArgGluAlaGlnAlaArgGluValArgCysArgGluThrGlnValArgGluThrGlnAlaArgGlnGluLysProValLeuGluTyrGlnMetArgProLeuGlyProSerValMetGlyLeuAlaAlaGlyValSerGlyThrSerGlnIleSerHisArgGlyIleThrSerAlaPheProThrThrAlaSerSerGluProAspTrpArgAspPheArgProLeuGluLysArgTyrGluGlyThrCysSerLysLysAspGlnSerThrCysLeuMetGlnLeuPheGlnSerAspAlaMetPheGluProAspMetGlnGluAlaAsnPheGlyGlySerProArgArgAlaTyrProThrTyrSerProProGluAspProGluGluGluGluValGluLysGluGlyAsnAlaThrValSerPheSerGlnAlaLeuValGluPheThrSerAsnGlyAsnLeuPheSerSerMetSerCysSerSerAspSerAspSerSerPheThrGlnAsnLeuProGluLeuProProMetValThrPheAspIleAlaAspValGluArgAspGlyGluGlyLysCysGluGluAsnProGluPheHisAsnAspGluAspLeuAlaAlaSerLeuGluAlaPheGluLeuGlyTyrTyrHisLysHisAlaPheAsnAsnTyrHisSerArgPheTyrGlnGlyLeuProTrpGlyValSerSerLeuProArgTyrLeuGlyLeuProGlyLeuHisProArgProProProAlaAlaMetAlaLeuAsnArgArgSerArgSerLeuAspThrAlaGluThrLeuGluMetGluLeuSerAsnSerHisLeuValGlnGlyTyrLeuGluSerAspGluLeuGlnAlaGlnGlnGluAspSerAspGluGluAspGluGluGluGluGluGlyGluTrpSerArgAspSerProLeuSerLeuTyrThrGluProProGlyAlaTyrAspTrpProAlaTrpAlaProCysProLeuProValGlyProGlyProAlaTrpIleSerProAsnGlnLeuAspArgProSerSerGlnSerProTyrArgGlnAlaThrCysCysIleProProMetThrMetSerIleSerLeuSerValProGluSerArgAlaProGlyGluSerGlyProGlnLeuAlaArgProSerHisLeuHisLeuProMetGlyProCysTyrAsnLeuGlnProGlnAlaSerGlnSerMetArgAlaArgProArgAspValLeuLeuProValAspGluProSerCysSerSerSerSerGlyGlyPheSerProSerProLeuProGlnAlaLysProValGlyIleThrHisGlyIleProGlnLeuProArgValArgProGluHisProGlnProGlnProThrHisTyrGlyProSerSerLeuAspLeuSerLysGluArgAlaGluGlnGlyAlaSerLeuAlaThrSerTyrSerSerThrAlaMetAsnGlyAsnLeuAlaLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259206"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1330,
          "referenceAllele": "C",
          "start": 1329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026837",
      "geneNCBI_id": 139285,
      "geneSymbol": "AMER1",
      "hgvs": [
        "ENST00000374869.7:c.1057C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364003.3:p.Arg353Ter",
        "hgvsWellDefined": "ENSP00000364003.3:p.Arg353_Trp804delinsAspGlyThrLysArgSerSerCysLeuValThrTyrGlnGlyGlyGlyGluGluMetAlaLeuProAspAspAspAspGluGluGluGluGluGluGluGluValGluLeuGluGluGluGluGluGluValLysGluGluGluGluAspAspAspLeuGluTyrLeuTrpGluThrAlaGlnMetTyrProArgProAsnMetAsnLeuGlyTyrHisProThrThrSerProGlyHisHisGlyTyrMetLeuLeuAspProValArgSerTyrProGlyLeuAlaProGlyGluLeuLeuThrProGlnSerAspGlnGlnGluSerAlaProAsnSerAspGluGlyTyrTyrAspSerThrThrProGlyPheGluAspAspSerGlyGluAlaLeuGlyLeuValArgArgAspCysLeuProArgAspSerTyrSerGlyAspAlaLeuTyrGluPheTyrGluProAspAspSerLeuGluAsnSerProProGlyAspAspCysLeuTyrAspLeuHisGlyArgSerSerGluMetPheAspProPheLeuAsnPheGluProPheLeuSerSerArgProProGlyAlaMetGluThrGluGluGluArgLeuValThrIleGlnLysGlnLeuLeuTyrTrpGluLeuArgArgGluGlnLeuGluAlaGlnGluAlaArgAlaArgGluAlaHisAlaArgGluAlaHisAlaArgGluAlaTyrThrArgGluAlaTyrGlyArgGluAlaTyrAlaArgGluAlaHisThrTrpGluAlaHisGlyArgGluAlaArgThrArgGluAlaGlnAlaArgGluValArgCysArgGluThrGlnValArgGluThrGlnAlaArgGlnGluLysProValLeuGluTyrGlnMetArgProLeuGlyProSerValMetGlyLeuAlaAlaGlyValSerGlyThrSerGlnIleSerHisArgGlyIleThrSerAlaPheProThrThrAlaSerSerGluProAspTrpArgAspPheArgProLeuGluLysArgTyrGluGlyThrCysSerLysLysAspGlnSerThrCysLeuMetGlnLeuPheGlnSerAspAlaMetPheGluProAspMetGlnGluAlaAsnPheGlyGlySerProArgArgAlaTyrProThrTyrSerProProGluAspProGluGluGluGluValGluLysGluGlyAsnAlaThrValSerPheSerGlnAlaLeuValGluPheThrSerAsnGlyAsnLeuPheSerSerIleArgCysProGlyThrGluAspLysArgGlnValThrGlnAlaCysGlyThrTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270457"
    },
    {
      "@id": "http://reg.genome.network/allele/PA121148",
      "coordinates": [
        {
          "allele": "T",
          "end": 1330,
          "referenceAllele": "C",
          "start": 1329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026837",
      "geneNCBI_id": 139285,
      "geneSymbol": "AMER1",
      "hgvs": [
        "NM_152424.3:c.1057C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_689637.3:p.Arg353Ter",
        "hgvsWellDefined": "NP_689637.3:p.Arg353_Lys1135delinsAspGlyThrLysArgSerSerCysLeuValThrTyrGlnGlyGlyGlyGluGluMetAlaLeuProAspAspAspAspGluGluGluGluGluGluGluGluValGluLeuGluGluGluGluGluGluValLysGluGluGluGluAspAspAspLeuGluTyrLeuTrpGluThrAlaGlnMetTyrProArgProAsnMetAsnLeuGlyTyrHisProThrThrSerProGlyHisHisGlyTyrMetLeuLeuAspProValArgSerTyrProGlyLeuAlaProGlyGluLeuLeuThrProGlnSerAspGlnGlnGluSerAlaProAsnSerAspGluGlyTyrTyrAspSerThrThrProGlyPheGluAspAspSerGlyGluAlaLeuGlyLeuValArgArgAspCysLeuProArgAspSerTyrSerGlyAspAlaLeuTyrGluPheTyrGluProAspAspSerLeuGluAsnSerProProGlyAspAspCysLeuTyrAspLeuHisGlyArgSerSerGluMetPheAspProPheLeuAsnPheGluProPheLeuSerSerArgProProGlyAlaMetGluThrGluGluGluArgLeuValThrIleGlnLysGlnLeuLeuTyrTrpGluLeuArgArgGluGlnLeuGluAlaGlnGluAlaArgAlaArgGluAlaHisAlaArgGluAlaHisAlaArgGluAlaTyrThrArgGluAlaTyrGlyArgGluAlaTyrAlaArgGluAlaHisThrTrpGluAlaHisGlyArgGluAlaArgThrArgGluAlaGlnAlaArgGluValArgCysArgGluThrGlnValArgGluThrGlnAlaArgGlnGluLysProValLeuGluTyrGlnMetArgProLeuGlyProSerValMetGlyLeuAlaAlaGlyValSerGlyThrSerGlnIleSerHisArgGlyIleThrSerAlaPheProThrThrAlaSerSerGluProAspTrpArgAspPheArgProLeuGluLysArgTyrGluGlyThrCysSerLysLysAspGlnSerThrCysLeuMetGlnLeuPheGlnSerAspAlaMetPheGluProAspMetGlnGluAlaAsnPheGlyGlySerProArgArgAlaTyrProThrTyrSerProProGluAspProGluGluGluGluValGluLysGluGlyAsnAlaThrValSerPheSerGlnAlaLeuValGluPheThrSerAsnGlyAsnLeuPheSerSerMetSerCysSerSerAspSerAspSerSerPheThrGlnAsnLeuProGluLeuProProMetValThrPheAspIleAlaAspValGluArgAspGlyGluGlyLysCysGluGluAsnProGluPheHisAsnAspGluAspLeuAlaAlaSerLeuGluAlaPheGluLeuGlyTyrTyrHisLysHisAlaPheAsnAsnTyrHisSerArgPheTyrGlnGlyLeuProTrpGlyValSerSerLeuProArgTyrLeuGlyLeuProGlyLeuHisProArgProProProAlaAlaMetAlaLeuAsnArgArgSerArgSerLeuAspThrAlaGluThrLeuGluMetGluLeuSerAsnSerHisLeuValGlnGlyTyrLeuGluSerAspGluLeuGlnAlaGlnGlnGluAspSerAspGluGluAspGluGluGluGluGluGlyGluTrpSerArgAspSerProLeuSerLeuTyrThrGluProProGlyAlaTyrAspTrpProAlaTrpAlaProCysProLeuProValGlyProGlyProAlaTrpIleSerProAsnGlnLeuAspArgProSerSerGlnSerProTyrArgGlnAlaThrCysCysIleProProMetThrMetSerIleSerLeuSerValProGluSerArgAlaProGlyGluSerGlyProGlnLeuAlaArgProSerHisLeuHisLeuProMetGlyProCysTyrAsnLeuGlnProGlnAlaSerGlnSerMetArgAlaArgProArgAspValLeuLeuProValAspGluProSerCysSerSerSerSerGlyGlyPheSerProSerProLeuProGlnAlaLysProValGlyIleThrHisGlyIleProGlnLeuProArgValArgProGluHisProGlnProGlnProThrHisTyrGlyProSerSerLeuAspLeuSerLysGluArgAlaGluGlnGlyAlaSerLeuAlaThrSerTyrSerSerThrAlaMetAsnGlyAsnLeuAlaLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041872"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1288,
          "referenceAllele": "C",
          "start": 1287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026837",
      "geneNCBI_id": 139285,
      "geneSymbol": "AMER1",
      "hgvs": [
        "XM_011530858.1:c.1057C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529160.1:p.Arg353Ter",
        "hgvsWellDefined": "XP_011529160.1:p.Arg353_Lys1135delinsAspGlyThrLysArgSerSerCysLeuValThrTyrGlnGlyGlyGlyGluGluMetAlaLeuProAspAspAspAspGluGluGluGluGluGluGluGluValGluLeuGluGluGluGluGluGluValLysGluGluGluGluAspAspAspLeuGluTyrLeuTrpGluThrAlaGlnMetTyrProArgProAsnMetAsnLeuGlyTyrHisProThrThrSerProGlyHisHisGlyTyrMetLeuLeuAspProValArgSerTyrProGlyLeuAlaProGlyGluLeuLeuThrProGlnSerAspGlnGlnGluSerAlaProAsnSerAspGluGlyTyrTyrAspSerThrThrProGlyPheGluAspAspSerGlyGluAlaLeuGlyLeuValArgArgAspCysLeuProArgAspSerTyrSerGlyAspAlaLeuTyrGluPheTyrGluProAspAspSerLeuGluAsnSerProProGlyAspAspCysLeuTyrAspLeuHisGlyArgSerSerGluMetPheAspProPheLeuAsnPheGluProPheLeuSerSerArgProProGlyAlaMetGluThrGluGluGluArgLeuValThrIleGlnLysGlnLeuLeuTyrTrpGluLeuArgArgGluGlnLeuGluAlaGlnGluAlaArgAlaArgGluAlaHisAlaArgGluAlaHisAlaArgGluAlaTyrThrArgGluAlaTyrGlyArgGluAlaTyrAlaArgGluAlaHisThrTrpGluAlaHisGlyArgGluAlaArgThrArgGluAlaGlnAlaArgGluValArgCysArgGluThrGlnValArgGluThrGlnAlaArgGlnGluLysProValLeuGluTyrGlnMetArgProLeuGlyProSerValMetGlyLeuAlaAlaGlyValSerGlyThrSerGlnIleSerHisArgGlyIleThrSerAlaPheProThrThrAlaSerSerGluProAspTrpArgAspPheArgProLeuGluLysArgTyrGluGlyThrCysSerLysLysAspGlnSerThrCysLeuMetGlnLeuPheGlnSerAspAlaMetPheGluProAspMetGlnGluAlaAsnPheGlyGlySerProArgArgAlaTyrProThrTyrSerProProGluAspProGluGluGluGluValGluLysGluGlyAsnAlaThrValSerPheSerGlnAlaLeuValGluPheThrSerAsnGlyAsnLeuPheSerSerMetSerCysSerSerAspSerAspSerSerPheThrGlnAsnLeuProGluLeuProProMetValThrPheAspIleAlaAspValGluArgAspGlyGluGlyLysCysGluGluAsnProGluPheHisAsnAspGluAspLeuAlaAlaSerLeuGluAlaPheGluLeuGlyTyrTyrHisLysHisAlaPheAsnAsnTyrHisSerArgPheTyrGlnGlyLeuProTrpGlyValSerSerLeuProArgTyrLeuGlyLeuProGlyLeuHisProArgProProProAlaAlaMetAlaLeuAsnArgArgSerArgSerLeuAspThrAlaGluThrLeuGluMetGluLeuSerAsnSerHisLeuValGlnGlyTyrLeuGluSerAspGluLeuGlnAlaGlnGlnGluAspSerAspGluGluAspGluGluGluGluGluGlyGluTrpSerArgAspSerProLeuSerLeuTyrThrGluProProGlyAlaTyrAspTrpProAlaTrpAlaProCysProLeuProValGlyProGlyProAlaTrpIleSerProAsnGlnLeuAspArgProSerSerGlnSerProTyrArgGlnAlaThrCysCysIleProProMetThrMetSerIleSerLeuSerValProGluSerArgAlaProGlyGluSerGlyProGlnLeuAlaArgProSerHisLeuHisLeuProMetGlyProCysTyrAsnLeuGlnProGlnAlaSerGlnSerMetArgAlaArgProArgAspValLeuLeuProValAspGluProSerCysSerSerSerSerGlyGlyPheSerProSerProLeuProGlnAlaLysProValGlyIleThrHisGlyIleProGlnLeuProArgValArgProGluHisProGlnProGlnProThrHisTyrGlyProSerSerLeuAspLeuSerLysGluArgAlaGluGlnGlyAlaSerLeuAlaThrSerTyrSerSerThrAlaMetAsnGlyAsnLeuAlaLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097901"
    },
    {
      "@id": "http://reg.genome.network/allele/PA121148",
      "coordinates": [
        {
          "allele": "T",
          "end": 1294,
          "referenceAllele": "C",
          "start": 1293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026837",
      "geneNCBI_id": 139285,
      "geneSymbol": "AMER1",
      "hgvs": [
        "NM_152424.4:c.1057C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_689637.3:p.Arg353Ter",
        "hgvsWellDefined": "NP_689637.3:p.Arg353_Lys1135delinsAspGlyThrLysArgSerSerCysLeuValThrTyrGlnGlyGlyGlyGluGluMetAlaLeuProAspAspAspAspGluGluGluGluGluGluGluGluValGluLeuGluGluGluGluGluGluValLysGluGluGluGluAspAspAspLeuGluTyrLeuTrpGluThrAlaGlnMetTyrProArgProAsnMetAsnLeuGlyTyrHisProThrThrSerProGlyHisHisGlyTyrMetLeuLeuAspProValArgSerTyrProGlyLeuAlaProGlyGluLeuLeuThrProGlnSerAspGlnGlnGluSerAlaProAsnSerAspGluGlyTyrTyrAspSerThrThrProGlyPheGluAspAspSerGlyGluAlaLeuGlyLeuValArgArgAspCysLeuProArgAspSerTyrSerGlyAspAlaLeuTyrGluPheTyrGluProAspAspSerLeuGluAsnSerProProGlyAspAspCysLeuTyrAspLeuHisGlyArgSerSerGluMetPheAspProPheLeuAsnPheGluProPheLeuSerSerArgProProGlyAlaMetGluThrGluGluGluArgLeuValThrIleGlnLysGlnLeuLeuTyrTrpGluLeuArgArgGluGlnLeuGluAlaGlnGluAlaArgAlaArgGluAlaHisAlaArgGluAlaHisAlaArgGluAlaTyrThrArgGluAlaTyrGlyArgGluAlaTyrAlaArgGluAlaHisThrTrpGluAlaHisGlyArgGluAlaArgThrArgGluAlaGlnAlaArgGluValArgCysArgGluThrGlnValArgGluThrGlnAlaArgGlnGluLysProValLeuGluTyrGlnMetArgProLeuGlyProSerValMetGlyLeuAlaAlaGlyValSerGlyThrSerGlnIleSerHisArgGlyIleThrSerAlaPheProThrThrAlaSerSerGluProAspTrpArgAspPheArgProLeuGluLysArgTyrGluGlyThrCysSerLysLysAspGlnSerThrCysLeuMetGlnLeuPheGlnSerAspAlaMetPheGluProAspMetGlnGluAlaAsnPheGlyGlySerProArgArgAlaTyrProThrTyrSerProProGluAspProGluGluGluGluValGluLysGluGlyAsnAlaThrValSerPheSerGlnAlaLeuValGluPheThrSerAsnGlyAsnLeuPheSerSerMetSerCysSerSerAspSerAspSerSerPheThrGlnAsnLeuProGluLeuProProMetValThrPheAspIleAlaAspValGluArgAspGlyGluGlyLysCysGluGluAsnProGluPheHisAsnAspGluAspLeuAlaAlaSerLeuGluAlaPheGluLeuGlyTyrTyrHisLysHisAlaPheAsnAsnTyrHisSerArgPheTyrGlnGlyLeuProTrpGlyValSerSerLeuProArgTyrLeuGlyLeuProGlyLeuHisProArgProProProAlaAlaMetAlaLeuAsnArgArgSerArgSerLeuAspThrAlaGluThrLeuGluMetGluLeuSerAsnSerHisLeuValGlnGlyTyrLeuGluSerAspGluLeuGlnAlaGlnGlnGluAspSerAspGluGluAspGluGluGluGluGluGlyGluTrpSerArgAspSerProLeuSerLeuTyrThrGluProProGlyAlaTyrAspTrpProAlaTrpAlaProCysProLeuProValGlyProGlyProAlaTrpIleSerProAsnGlnLeuAspArgProSerSerGlnSerProTyrArgGlnAlaThrCysCysIleProProMetThrMetSerIleSerLeuSerValProGluSerArgAlaProGlyGluSerGlyProGlnLeuAlaArgProSerHisLeuHisLeuProMetGlyProCysTyrAsnLeuGlnProGlnAlaSerGlnSerMetArgAlaArgProArgAspValLeuLeuProValAspGluProSerCysSerSerSerSerGlyGlyPheSerProSerProLeuProGlnAlaLysProValGlyIleThrHisGlyIleProGlnLeuProArgValArgProGluHisProGlnProGlnProThrHisTyrGlyProSerSerLeuAspLeuSerLysGluArgAlaGluGlnGlyAlaSerLeuAlaThrSerTyrSerSerThrAlaMetAsnGlyAsnLeuAlaLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526650",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374869.8:c.1057C>T"
          },
          "RefSeq": {
            "hgvs": "NM_152424.4:c.1057C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364003.4:p.Arg353Ter"
          },
          "RefSeq": {
            "hgvs": "NP_689637.3:p.Arg353Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}