{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA121149",
  "communityStandardTitle": [
    "NM_152424.4(AMER1):c.1072C>T (p.Arg358Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=22960",
        "active": true,
        "id": "COSM22960"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=193868",
        "active": true,
        "id": "COSM193868"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=25747[alleleid]",
        "alleleId": 25747,
        "preferredName": "NM_152424.4(AMER1):c.1072C>T (p.Arg358Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/10708",
        "RCV": [
          "RCV000011454",
          "RCV000303504",
          "RCV000624757",
          "RCV003398482"
        ],
        "variationId": 10708
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.63412095G>A?assembly=hg19",
        "id": "chrX:g.63412095G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.64192215G>A?assembly=hg38",
        "id": "chrX:g.64192215G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/137852217",
        "rs": 137852217
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 64192215,
          "referenceAllele": "G",
          "start": 64192214
        }
      ],
      "hgvs": [
        "NC_000023.11:g.64192215G>A",
        "CM000685.2:g.64192215G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 63412095,
          "referenceAllele": "G",
          "start": 63412094
        }
      ],
      "hgvs": [
        "NC_000023.10:g.63412095G>A",
        "CM000685.1:g.63412095G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 63328820,
          "referenceAllele": "G",
          "start": 63328819
        }
      ],
      "hgvs": [
        "NC_000023.9:g.63328820G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 18530,
          "referenceAllele": "C",
          "start": 18529
        }
      ],
      "hgvs": [
        "NG_021345.1:g.18530C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003585"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1309,
          "referenceAllele": "C",
          "start": 1308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026837",
      "geneNCBI_id": 139285,
      "geneSymbol": "AMER1",
      "hgvs": [
        "ENST00000374869.8:c.1072C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364003.4:p.Arg358Ter",
        "hgvsWellDefined": "ENSP00000364003.4:p.Arg358_Lys1135delinsSerSerCysLeuValThrTyrGlnGlyGlyGlyGluGluMetAlaLeuProAspAspAspAspGluGluGluGluGluGluGluGluValGluLeuGluGluGluGluGluGluValLysGluGluGluGluAspAspAspLeuGluTyrLeuTrpGluThrAlaGlnMetTyrProArgProAsnMetAsnLeuGlyTyrHisProThrThrSerProGlyHisHisGlyTyrMetLeuLeuAspProValArgSerTyrProGlyLeuAlaProGlyGluLeuLeuThrProGlnSerAspGlnGlnGluSerAlaProAsnSerAspGluGlyTyrTyrAspSerThrThrProGlyPheGluAspAspSerGlyGluAlaLeuGlyLeuValArgArgAspCysLeuProArgAspSerTyrSerGlyAspAlaLeuTyrGluPheTyrGluProAspAspSerLeuGluAsnSerProProGlyAspAspCysLeuTyrAspLeuHisGlyArgSerSerGluMetPheAspProPheLeuAsnPheGluProPheLeuSerSerArgProProGlyAlaMetGluThrGluGluGluArgLeuValThrIleGlnLysGlnLeuLeuTyrTrpGluLeuArgArgGluGlnLeuGluAlaGlnGluAlaArgAlaArgGluAlaHisAlaArgGluAlaHisAlaArgGluAlaTyrThrArgGluAlaTyrGlyArgGluAlaTyrAlaArgGluAlaHisThrTrpGluAlaHisGlyArgGluAlaArgThrArgGluAlaGlnAlaArgGluValArgCysArgGluThrGlnValArgGluThrGlnAlaArgGlnGluLysProValLeuGluTyrGlnMetArgProLeuGlyProSerValMetGlyLeuAlaAlaGlyValSerGlyThrSerGlnIleSerHisArgGlyIleThrSerAlaPheProThrThrAlaSerSerGluProAspTrpArgAspPheArgProLeuGluLysArgTyrGluGlyThrCysSerLysLysAspGlnSerThrCysLeuMetGlnLeuPheGlnSerAspAlaMetPheGluProAspMetGlnGluAlaAsnPheGlyGlySerProArgArgAlaTyrProThrTyrSerProProGluAspProGluGluGluGluValGluLysGluGlyAsnAlaThrValSerPheSerGlnAlaLeuValGluPheThrSerAsnGlyAsnLeuPheSerSerMetSerCysSerSerAspSerAspSerSerPheThrGlnAsnLeuProGluLeuProProMetValThrPheAspIleAlaAspValGluArgAspGlyGluGlyLysCysGluGluAsnProGluPheHisAsnAspGluAspLeuAlaAlaSerLeuGluAlaPheGluLeuGlyTyrTyrHisLysHisAlaPheAsnAsnTyrHisSerArgPheTyrGlnGlyLeuProTrpGlyValSerSerLeuProArgTyrLeuGlyLeuProGlyLeuHisProArgProProProAlaAlaMetAlaLeuAsnArgArgSerArgSerLeuAspThrAlaGluThrLeuGluMetGluLeuSerAsnSerHisLeuValGlnGlyTyrLeuGluSerAspGluLeuGlnAlaGlnGlnGluAspSerAspGluGluAspGluGluGluGluGluGlyGluTrpSerArgAspSerProLeuSerLeuTyrThrGluProProGlyAlaTyrAspTrpProAlaTrpAlaProCysProLeuProValGlyProGlyProAlaTrpIleSerProAsnGlnLeuAspArgProSerSerGlnSerProTyrArgGlnAlaThrCysCysIleProProMetThrMetSerIleSerLeuSerValProGluSerArgAlaProGlyGluSerGlyProGlnLeuAlaArgProSerHisLeuHisLeuProMetGlyProCysTyrAsnLeuGlnProGlnAlaSerGlnSerMetArgAlaArgProArgAspValLeuLeuProValAspGluProSerCysSerSerSerSerGlyGlyPheSerProSerProLeuProGlnAlaLysProValGlyIleThrHisGlyIleProGlnLeuProArgValArgProGluHisProGlnProGlnProThrHisTyrGlyProSerSerLeuAspLeuSerLysGluArgAlaGluGlnGlyAlaSerLeuAlaThrSerTyrSerSerThrAlaMetAsnGlyAsnLeuAlaLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751515",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374869.8:c.1072C>T"
          },
          "RefSeq": {
            "hgvs": "NM_152424.4:c.1072C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364003.4:p.Arg358Ter"
          },
          "RefSeq": {
            "hgvs": "NP_689637.3:p.Arg358Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1345,
          "referenceAllele": "C",
          "start": 1344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026837",
      "geneNCBI_id": 139285,
      "geneSymbol": "AMER1",
      "hgvs": [
        "ENST00000330258.3:c.1072C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000329117.3:p.Arg358Ter",
        "hgvsWellDefined": "ENSP00000329117.3:p.Arg358_Lys1135delinsSerSerCysLeuValThrTyrGlnGlyGlyGlyGluGluMetAlaLeuProAspAspAspAspGluGluGluGluGluGluGluGluValGluLeuGluGluGluGluGluGluValLysGluGluGluGluAspAspAspLeuGluTyrLeuTrpGluThrAlaGlnMetTyrProArgProAsnMetAsnLeuGlyTyrHisProThrThrSerProGlyHisHisGlyTyrMetLeuLeuAspProValArgSerTyrProGlyLeuAlaProGlyGluLeuLeuThrProGlnSerAspGlnGlnGluSerAlaProAsnSerAspGluGlyTyrTyrAspSerThrThrProGlyPheGluAspAspSerGlyGluAlaLeuGlyLeuValArgArgAspCysLeuProArgAspSerTyrSerGlyAspAlaLeuTyrGluPheTyrGluProAspAspSerLeuGluAsnSerProProGlyAspAspCysLeuTyrAspLeuHisGlyArgSerSerGluMetPheAspProPheLeuAsnPheGluProPheLeuSerSerArgProProGlyAlaMetGluThrGluGluGluArgLeuValThrIleGlnLysGlnLeuLeuTyrTrpGluLeuArgArgGluGlnLeuGluAlaGlnGluAlaArgAlaArgGluAlaHisAlaArgGluAlaHisAlaArgGluAlaTyrThrArgGluAlaTyrGlyArgGluAlaTyrAlaArgGluAlaHisThrTrpGluAlaHisGlyArgGluAlaArgThrArgGluAlaGlnAlaArgGluValArgCysArgGluThrGlnValArgGluThrGlnAlaArgGlnGluLysProValLeuGluTyrGlnMetArgProLeuGlyProSerValMetGlyLeuAlaAlaGlyValSerGlyThrSerGlnIleSerHisArgGlyIleThrSerAlaPheProThrThrAlaSerSerGluProAspTrpArgAspPheArgProLeuGluLysArgTyrGluGlyThrCysSerLysLysAspGlnSerThrCysLeuMetGlnLeuPheGlnSerAspAlaMetPheGluProAspMetGlnGluAlaAsnPheGlyGlySerProArgArgAlaTyrProThrTyrSerProProGluAspProGluGluGluGluValGluLysGluGlyAsnAlaThrValSerPheSerGlnAlaLeuValGluPheThrSerAsnGlyAsnLeuPheSerSerMetSerCysSerSerAspSerAspSerSerPheThrGlnAsnLeuProGluLeuProProMetValThrPheAspIleAlaAspValGluArgAspGlyGluGlyLysCysGluGluAsnProGluPheHisAsnAspGluAspLeuAlaAlaSerLeuGluAlaPheGluLeuGlyTyrTyrHisLysHisAlaPheAsnAsnTyrHisSerArgPheTyrGlnGlyLeuProTrpGlyValSerSerLeuProArgTyrLeuGlyLeuProGlyLeuHisProArgProProProAlaAlaMetAlaLeuAsnArgArgSerArgSerLeuAspThrAlaGluThrLeuGluMetGluLeuSerAsnSerHisLeuValGlnGlyTyrLeuGluSerAspGluLeuGlnAlaGlnGlnGluAspSerAspGluGluAspGluGluGluGluGluGlyGluTrpSerArgAspSerProLeuSerLeuTyrThrGluProProGlyAlaTyrAspTrpProAlaTrpAlaProCysProLeuProValGlyProGlyProAlaTrpIleSerProAsnGlnLeuAspArgProSerSerGlnSerProTyrArgGlnAlaThrCysCysIleProProMetThrMetSerIleSerLeuSerValProGluSerArgAlaProGlyGluSerGlyProGlnLeuAlaArgProSerHisLeuHisLeuProMetGlyProCysTyrAsnLeuGlnProGlnAlaSerGlnSerMetArgAlaArgProArgAspValLeuLeuProValAspGluProSerCysSerSerSerSerGlyGlyPheSerProSerProLeuProGlnAlaLysProValGlyIleThrHisGlyIleProGlnLeuProArgValArgProGluHisProGlnProGlnProThrHisTyrGlyProSerSerLeuAspLeuSerLysGluArgAlaGluGlnGlyAlaSerLeuAlaThrSerTyrSerSerThrAlaMetAsnGlyAsnLeuAlaLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259206"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1345,
          "referenceAllele": "C",
          "start": 1344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026837",
      "geneNCBI_id": 139285,
      "geneSymbol": "AMER1",
      "hgvs": [
        "ENST00000374869.7:c.1072C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364003.3:p.Arg358Ter",
        "hgvsWellDefined": "ENSP00000364003.3:p.Arg358_Trp804delinsSerSerCysLeuValThrTyrGlnGlyGlyGlyGluGluMetAlaLeuProAspAspAspAspGluGluGluGluGluGluGluGluValGluLeuGluGluGluGluGluGluValLysGluGluGluGluAspAspAspLeuGluTyrLeuTrpGluThrAlaGlnMetTyrProArgProAsnMetAsnLeuGlyTyrHisProThrThrSerProGlyHisHisGlyTyrMetLeuLeuAspProValArgSerTyrProGlyLeuAlaProGlyGluLeuLeuThrProGlnSerAspGlnGlnGluSerAlaProAsnSerAspGluGlyTyrTyrAspSerThrThrProGlyPheGluAspAspSerGlyGluAlaLeuGlyLeuValArgArgAspCysLeuProArgAspSerTyrSerGlyAspAlaLeuTyrGluPheTyrGluProAspAspSerLeuGluAsnSerProProGlyAspAspCysLeuTyrAspLeuHisGlyArgSerSerGluMetPheAspProPheLeuAsnPheGluProPheLeuSerSerArgProProGlyAlaMetGluThrGluGluGluArgLeuValThrIleGlnLysGlnLeuLeuTyrTrpGluLeuArgArgGluGlnLeuGluAlaGlnGluAlaArgAlaArgGluAlaHisAlaArgGluAlaHisAlaArgGluAlaTyrThrArgGluAlaTyrGlyArgGluAlaTyrAlaArgGluAlaHisThrTrpGluAlaHisGlyArgGluAlaArgThrArgGluAlaGlnAlaArgGluValArgCysArgGluThrGlnValArgGluThrGlnAlaArgGlnGluLysProValLeuGluTyrGlnMetArgProLeuGlyProSerValMetGlyLeuAlaAlaGlyValSerGlyThrSerGlnIleSerHisArgGlyIleThrSerAlaPheProThrThrAlaSerSerGluProAspTrpArgAspPheArgProLeuGluLysArgTyrGluGlyThrCysSerLysLysAspGlnSerThrCysLeuMetGlnLeuPheGlnSerAspAlaMetPheGluProAspMetGlnGluAlaAsnPheGlyGlySerProArgArgAlaTyrProThrTyrSerProProGluAspProGluGluGluGluValGluLysGluGlyAsnAlaThrValSerPheSerGlnAlaLeuValGluPheThrSerAsnGlyAsnLeuPheSerSerIleArgCysProGlyThrGluAspLysArgGlnValThrGlnAlaCysGlyThrTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270457"
    },
    {
      "@id": "http://reg.genome.network/allele/PA121150",
      "coordinates": [
        {
          "allele": "T",
          "end": 1345,
          "referenceAllele": "C",
          "start": 1344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026837",
      "geneNCBI_id": 139285,
      "geneSymbol": "AMER1",
      "hgvs": [
        "NM_152424.3:c.1072C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_689637.3:p.Arg358Ter",
        "hgvsWellDefined": "NP_689637.3:p.Arg358_Lys1135delinsSerSerCysLeuValThrTyrGlnGlyGlyGlyGluGluMetAlaLeuProAspAspAspAspGluGluGluGluGluGluGluGluValGluLeuGluGluGluGluGluGluValLysGluGluGluGluAspAspAspLeuGluTyrLeuTrpGluThrAlaGlnMetTyrProArgProAsnMetAsnLeuGlyTyrHisProThrThrSerProGlyHisHisGlyTyrMetLeuLeuAspProValArgSerTyrProGlyLeuAlaProGlyGluLeuLeuThrProGlnSerAspGlnGlnGluSerAlaProAsnSerAspGluGlyTyrTyrAspSerThrThrProGlyPheGluAspAspSerGlyGluAlaLeuGlyLeuValArgArgAspCysLeuProArgAspSerTyrSerGlyAspAlaLeuTyrGluPheTyrGluProAspAspSerLeuGluAsnSerProProGlyAspAspCysLeuTyrAspLeuHisGlyArgSerSerGluMetPheAspProPheLeuAsnPheGluProPheLeuSerSerArgProProGlyAlaMetGluThrGluGluGluArgLeuValThrIleGlnLysGlnLeuLeuTyrTrpGluLeuArgArgGluGlnLeuGluAlaGlnGluAlaArgAlaArgGluAlaHisAlaArgGluAlaHisAlaArgGluAlaTyrThrArgGluAlaTyrGlyArgGluAlaTyrAlaArgGluAlaHisThrTrpGluAlaHisGlyArgGluAlaArgThrArgGluAlaGlnAlaArgGluValArgCysArgGluThrGlnValArgGluThrGlnAlaArgGlnGluLysProValLeuGluTyrGlnMetArgProLeuGlyProSerValMetGlyLeuAlaAlaGlyValSerGlyThrSerGlnIleSerHisArgGlyIleThrSerAlaPheProThrThrAlaSerSerGluProAspTrpArgAspPheArgProLeuGluLysArgTyrGluGlyThrCysSerLysLysAspGlnSerThrCysLeuMetGlnLeuPheGlnSerAspAlaMetPheGluProAspMetGlnGluAlaAsnPheGlyGlySerProArgArgAlaTyrProThrTyrSerProProGluAspProGluGluGluGluValGluLysGluGlyAsnAlaThrValSerPheSerGlnAlaLeuValGluPheThrSerAsnGlyAsnLeuPheSerSerMetSerCysSerSerAspSerAspSerSerPheThrGlnAsnLeuProGluLeuProProMetValThrPheAspIleAlaAspValGluArgAspGlyGluGlyLysCysGluGluAsnProGluPheHisAsnAspGluAspLeuAlaAlaSerLeuGluAlaPheGluLeuGlyTyrTyrHisLysHisAlaPheAsnAsnTyrHisSerArgPheTyrGlnGlyLeuProTrpGlyValSerSerLeuProArgTyrLeuGlyLeuProGlyLeuHisProArgProProProAlaAlaMetAlaLeuAsnArgArgSerArgSerLeuAspThrAlaGluThrLeuGluMetGluLeuSerAsnSerHisLeuValGlnGlyTyrLeuGluSerAspGluLeuGlnAlaGlnGlnGluAspSerAspGluGluAspGluGluGluGluGluGlyGluTrpSerArgAspSerProLeuSerLeuTyrThrGluProProGlyAlaTyrAspTrpProAlaTrpAlaProCysProLeuProValGlyProGlyProAlaTrpIleSerProAsnGlnLeuAspArgProSerSerGlnSerProTyrArgGlnAlaThrCysCysIleProProMetThrMetSerIleSerLeuSerValProGluSerArgAlaProGlyGluSerGlyProGlnLeuAlaArgProSerHisLeuHisLeuProMetGlyProCysTyrAsnLeuGlnProGlnAlaSerGlnSerMetArgAlaArgProArgAspValLeuLeuProValAspGluProSerCysSerSerSerSerGlyGlyPheSerProSerProLeuProGlnAlaLysProValGlyIleThrHisGlyIleProGlnLeuProArgValArgProGluHisProGlnProGlnProThrHisTyrGlyProSerSerLeuAspLeuSerLysGluArgAlaGluGlnGlyAlaSerLeuAlaThrSerTyrSerSerThrAlaMetAsnGlyAsnLeuAlaLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041872"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1303,
          "referenceAllele": "C",
          "start": 1302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026837",
      "geneNCBI_id": 139285,
      "geneSymbol": "AMER1",
      "hgvs": [
        "XM_011530858.1:c.1072C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529160.1:p.Arg358Ter",
        "hgvsWellDefined": "XP_011529160.1:p.Arg358_Lys1135delinsSerSerCysLeuValThrTyrGlnGlyGlyGlyGluGluMetAlaLeuProAspAspAspAspGluGluGluGluGluGluGluGluValGluLeuGluGluGluGluGluGluValLysGluGluGluGluAspAspAspLeuGluTyrLeuTrpGluThrAlaGlnMetTyrProArgProAsnMetAsnLeuGlyTyrHisProThrThrSerProGlyHisHisGlyTyrMetLeuLeuAspProValArgSerTyrProGlyLeuAlaProGlyGluLeuLeuThrProGlnSerAspGlnGlnGluSerAlaProAsnSerAspGluGlyTyrTyrAspSerThrThrProGlyPheGluAspAspSerGlyGluAlaLeuGlyLeuValArgArgAspCysLeuProArgAspSerTyrSerGlyAspAlaLeuTyrGluPheTyrGluProAspAspSerLeuGluAsnSerProProGlyAspAspCysLeuTyrAspLeuHisGlyArgSerSerGluMetPheAspProPheLeuAsnPheGluProPheLeuSerSerArgProProGlyAlaMetGluThrGluGluGluArgLeuValThrIleGlnLysGlnLeuLeuTyrTrpGluLeuArgArgGluGlnLeuGluAlaGlnGluAlaArgAlaArgGluAlaHisAlaArgGluAlaHisAlaArgGluAlaTyrThrArgGluAlaTyrGlyArgGluAlaTyrAlaArgGluAlaHisThrTrpGluAlaHisGlyArgGluAlaArgThrArgGluAlaGlnAlaArgGluValArgCysArgGluThrGlnValArgGluThrGlnAlaArgGlnGluLysProValLeuGluTyrGlnMetArgProLeuGlyProSerValMetGlyLeuAlaAlaGlyValSerGlyThrSerGlnIleSerHisArgGlyIleThrSerAlaPheProThrThrAlaSerSerGluProAspTrpArgAspPheArgProLeuGluLysArgTyrGluGlyThrCysSerLysLysAspGlnSerThrCysLeuMetGlnLeuPheGlnSerAspAlaMetPheGluProAspMetGlnGluAlaAsnPheGlyGlySerProArgArgAlaTyrProThrTyrSerProProGluAspProGluGluGluGluValGluLysGluGlyAsnAlaThrValSerPheSerGlnAlaLeuValGluPheThrSerAsnGlyAsnLeuPheSerSerMetSerCysSerSerAspSerAspSerSerPheThrGlnAsnLeuProGluLeuProProMetValThrPheAspIleAlaAspValGluArgAspGlyGluGlyLysCysGluGluAsnProGluPheHisAsnAspGluAspLeuAlaAlaSerLeuGluAlaPheGluLeuGlyTyrTyrHisLysHisAlaPheAsnAsnTyrHisSerArgPheTyrGlnGlyLeuProTrpGlyValSerSerLeuProArgTyrLeuGlyLeuProGlyLeuHisProArgProProProAlaAlaMetAlaLeuAsnArgArgSerArgSerLeuAspThrAlaGluThrLeuGluMetGluLeuSerAsnSerHisLeuValGlnGlyTyrLeuGluSerAspGluLeuGlnAlaGlnGlnGluAspSerAspGluGluAspGluGluGluGluGluGlyGluTrpSerArgAspSerProLeuSerLeuTyrThrGluProProGlyAlaTyrAspTrpProAlaTrpAlaProCysProLeuProValGlyProGlyProAlaTrpIleSerProAsnGlnLeuAspArgProSerSerGlnSerProTyrArgGlnAlaThrCysCysIleProProMetThrMetSerIleSerLeuSerValProGluSerArgAlaProGlyGluSerGlyProGlnLeuAlaArgProSerHisLeuHisLeuProMetGlyProCysTyrAsnLeuGlnProGlnAlaSerGlnSerMetArgAlaArgProArgAspValLeuLeuProValAspGluProSerCysSerSerSerSerGlyGlyPheSerProSerProLeuProGlnAlaLysProValGlyIleThrHisGlyIleProGlnLeuProArgValArgProGluHisProGlnProGlnProThrHisTyrGlyProSerSerLeuAspLeuSerLysGluArgAlaGluGlnGlyAlaSerLeuAlaThrSerTyrSerSerThrAlaMetAsnGlyAsnLeuAlaLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097901"
    },
    {
      "@id": "http://reg.genome.network/allele/PA121150",
      "coordinates": [
        {
          "allele": "T",
          "end": 1309,
          "referenceAllele": "C",
          "start": 1308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026837",
      "geneNCBI_id": 139285,
      "geneSymbol": "AMER1",
      "hgvs": [
        "NM_152424.4:c.1072C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_689637.3:p.Arg358Ter",
        "hgvsWellDefined": "NP_689637.3:p.Arg358_Lys1135delinsSerSerCysLeuValThrTyrGlnGlyGlyGlyGluGluMetAlaLeuProAspAspAspAspGluGluGluGluGluGluGluGluValGluLeuGluGluGluGluGluGluValLysGluGluGluGluAspAspAspLeuGluTyrLeuTrpGluThrAlaGlnMetTyrProArgProAsnMetAsnLeuGlyTyrHisProThrThrSerProGlyHisHisGlyTyrMetLeuLeuAspProValArgSerTyrProGlyLeuAlaProGlyGluLeuLeuThrProGlnSerAspGlnGlnGluSerAlaProAsnSerAspGluGlyTyrTyrAspSerThrThrProGlyPheGluAspAspSerGlyGluAlaLeuGlyLeuValArgArgAspCysLeuProArgAspSerTyrSerGlyAspAlaLeuTyrGluPheTyrGluProAspAspSerLeuGluAsnSerProProGlyAspAspCysLeuTyrAspLeuHisGlyArgSerSerGluMetPheAspProPheLeuAsnPheGluProPheLeuSerSerArgProProGlyAlaMetGluThrGluGluGluArgLeuValThrIleGlnLysGlnLeuLeuTyrTrpGluLeuArgArgGluGlnLeuGluAlaGlnGluAlaArgAlaArgGluAlaHisAlaArgGluAlaHisAlaArgGluAlaTyrThrArgGluAlaTyrGlyArgGluAlaTyrAlaArgGluAlaHisThrTrpGluAlaHisGlyArgGluAlaArgThrArgGluAlaGlnAlaArgGluValArgCysArgGluThrGlnValArgGluThrGlnAlaArgGlnGluLysProValLeuGluTyrGlnMetArgProLeuGlyProSerValMetGlyLeuAlaAlaGlyValSerGlyThrSerGlnIleSerHisArgGlyIleThrSerAlaPheProThrThrAlaSerSerGluProAspTrpArgAspPheArgProLeuGluLysArgTyrGluGlyThrCysSerLysLysAspGlnSerThrCysLeuMetGlnLeuPheGlnSerAspAlaMetPheGluProAspMetGlnGluAlaAsnPheGlyGlySerProArgArgAlaTyrProThrTyrSerProProGluAspProGluGluGluGluValGluLysGluGlyAsnAlaThrValSerPheSerGlnAlaLeuValGluPheThrSerAsnGlyAsnLeuPheSerSerMetSerCysSerSerAspSerAspSerSerPheThrGlnAsnLeuProGluLeuProProMetValThrPheAspIleAlaAspValGluArgAspGlyGluGlyLysCysGluGluAsnProGluPheHisAsnAspGluAspLeuAlaAlaSerLeuGluAlaPheGluLeuGlyTyrTyrHisLysHisAlaPheAsnAsnTyrHisSerArgPheTyrGlnGlyLeuProTrpGlyValSerSerLeuProArgTyrLeuGlyLeuProGlyLeuHisProArgProProProAlaAlaMetAlaLeuAsnArgArgSerArgSerLeuAspThrAlaGluThrLeuGluMetGluLeuSerAsnSerHisLeuValGlnGlyTyrLeuGluSerAspGluLeuGlnAlaGlnGlnGluAspSerAspGluGluAspGluGluGluGluGluGlyGluTrpSerArgAspSerProLeuSerLeuTyrThrGluProProGlyAlaTyrAspTrpProAlaTrpAlaProCysProLeuProValGlyProGlyProAlaTrpIleSerProAsnGlnLeuAspArgProSerSerGlnSerProTyrArgGlnAlaThrCysCysIleProProMetThrMetSerIleSerLeuSerValProGluSerArgAlaProGlyGluSerGlyProGlnLeuAlaArgProSerHisLeuHisLeuProMetGlyProCysTyrAsnLeuGlnProGlnAlaSerGlnSerMetArgAlaArgProArgAspValLeuLeuProValAspGluProSerCysSerSerSerSerGlyGlyPheSerProSerProLeuProGlnAlaLysProValGlyIleThrHisGlyIleProGlnLeuProArgValArgProGluHisProGlnProGlnProThrHisTyrGlyProSerSerLeuAspLeuSerLysGluArgAlaGluGlnGlyAlaSerLeuAlaThrSerTyrSerSerThrAlaMetAsnGlyAsnLeuAlaLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526650",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374869.8:c.1072C>T"
          },
          "RefSeq": {
            "hgvs": "NM_152424.4:c.1072C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364003.4:p.Arg358Ter"
          },
          "RefSeq": {
            "hgvs": "NP_689637.3:p.Arg358Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}