{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA120022",
  "communityStandardTitle": [
    "NM_002855.5(NECTIN1):c.554G>A (p.Trp185Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=24008[alleleid]",
        "alleleId": 24008,
        "preferredName": "NM_002855.5(NECTIN1):c.554G>A (p.Trp185Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8969",
        "RCV": [
          "RCV000009531",
          "RCV000009532"
        ],
        "variationId": 8969
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.119548444C>T?assembly=hg19",
        "id": "chr11:g.119548444C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.119677734C>T?assembly=hg38",
        "id": "chr11:g.119677734C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894281",
        "rs": 104894281
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-119677734-C-T?dataset=gnomad_r4",
        "id": "11-119677734-C-T",
        "variant": "11:119677734 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 119677734,
          "referenceAllele": "C",
          "start": 119677733
        }
      ],
      "hgvs": [
        "NC_000011.10:g.119677734C>T",
        "CM000673.2:g.119677734C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 119548444,
          "referenceAllele": "C",
          "start": 119548443
        }
      ],
      "hgvs": [
        "NC_000011.9:g.119548444C>T",
        "CM000673.1:g.119548444C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 119053654,
          "referenceAllele": "C",
          "start": 119053653
        }
      ],
      "hgvs": [
        "NC_000011.8:g.119053654C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 55992,
          "referenceAllele": "G",
          "start": 55991
        }
      ],
      "hgvs": [
        "NG_013083.1:g.55992G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002706"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 55992,
          "referenceAllele": "G",
          "start": 55991
        }
      ],
      "hgvs": [
        "NG_013083.2:g.55992G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673633"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 554,
          "referenceAllele": "G",
          "start": 553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009706",
      "geneNCBI_id": 5818,
      "geneSymbol": "NECTIN1",
      "hgvs": [
        "ENST00000531468.2:c.554G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513010.1:p.Trp185Ter",
        "hgvsWellDefined": "ENSP00000513010.1:p.Trp185_Pro493delinsGluThrArgLeuLysGlyGluAlaGluTyrGlnGluIleArgAsnProAsnGlyThrValThrValIleSerArgTyrArgLeuValProSerArgGluAlaHisGlnGlnSerLeuAlaCysIleValAsnTyrHisMetAspArgPheLysGluSerLeuThrLeuAsnValGlnTyrGluProGluValThrIleGluGlyPheAspGlyAsnTrpTyrLeuGlnArgMetAspValLysLeuThrCysLysAlaAspAlaAsnProProAlaThrGluTyrHisTrpThrThrLeuAsnGlySerLeuProLysGlyValGluAlaGlnAsnArgThrLeuPhePheLysGlyProIleAsnTyrSerLeuAlaGlyThrTyrIleCysGluAlaThrAsnProIleGlyThrArgSerGlyGlnValGluValAsnIleThrGluLysProArgProGlnArgGlyLeuGlySerAlaAlaArgLeuLeuAlaGlyThrValAlaValPheLeuIleLeuValAlaValLeuThrValPhePheLeuTyrAsnArgGlnGlnLysSerProProGluThrAspGlyAlaGlyThrAspGlnProLeuSerGlnLysProGluProSerProSerArgGlnSerSerLeuValProGluAspIleGlnValValHisLeuAspProGlyArgGlnGlnGlnGlnGluGluGluAspLeuGlnLysLeuSerLeuGlnProProTyrTyrAspLeuGlyValSerProSerTyrHisProSerGlySerGlyLeuLysAspThrHisSerHisTyrAlaGluLeuAspThrSerAlaLeuGluLeuValProGlyLeuArgThrProValProGlyProAlaGluAlaValGluTyrAlaThrIleGlnLeuSerProProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905715"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1201,
          "referenceAllele": "G",
          "start": 1200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009706",
      "geneNCBI_id": 5818,
      "geneSymbol": "NECTIN1",
      "hgvs": [
        "ENST00000264025.8:c.554G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264025.3:p.Trp185Ter",
        "hgvsWellDefined": "ENSP00000264025.3:p.Trp185_Val517delinsGluThrArgLeuLysGlyGluAlaGluTyrGlnGluIleArgAsnProAsnGlyThrValThrValIleSerArgTyrArgLeuValProSerArgGluAlaHisGlnGlnSerLeuAlaCysIleValAsnTyrHisMetAspArgPheLysGluSerLeuThrLeuAsnValGlnTyrGluProGluValThrIleGluGlyPheAspGlyAsnTrpTyrLeuGlnArgMetAspValLysLeuThrCysLysAlaAspAlaAsnProProAlaThrGluTyrHisTrpThrThrLeuAsnGlySerLeuProLysGlyValGluAlaGlnAsnArgThrLeuPhePheLysGlyProIleAsnTyrSerLeuAlaGlyThrTyrIleCysGluAlaThrAsnProIleGlyThrArgSerGlyGlnValGluValAsnIleThrGluPheProTyrThrProSerProProGluHisGlyArgArgAlaGlyProValProThrAlaIleIleGlyGlyValAlaGlySerIleLeuLeuValLeuIleValValGlyGlyIleValValAlaLeuArgArgArgArgHisThrPheLysGlyAspTyrSerThrLysLysHisValTyrGlyAsnGlyTyrSerLysAlaGlyIleProGlnHisHisProProMetAlaGlnAsnLeuGlnTyrProAspAspSerAspAspGluLysLysAlaGlyProLeuGlyGlySerSerTyrGluGluGluGluGluGluGluGluGlyGlyGlyGlyGlyGluArgLysValGlyGlyProHisProLysTyrAspGluAspAlaLysArgProTyrPheThrValAspGluAlaGluAlaArgGlnAspGlyTyrGlyAspArgThrLeuGlyTyrGlnTyrAspProGluGlnLeuAspLeuAlaGluAsnMetValSerGlnAsnAspGlySerPheIleSerLysLysGluTrpTyrValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742602",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264025.8:c.554G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002855.5:c.554G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264025.3:p.Trp185Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002846.3:p.Trp185Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1085,
          "referenceAllele": "G",
          "start": 1084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009706",
      "geneNCBI_id": 5818,
      "geneSymbol": "NECTIN1",
      "hgvs": [
        "ENST00000264025.7:c.554G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264025.3:p.Trp185Ter",
        "hgvsWellDefined": "ENSP00000264025.3:p.Trp185_Val517delinsGluThrArgLeuLysGlyGluAlaGluTyrGlnGluIleArgAsnProAsnGlyThrValThrValIleSerArgTyrArgLeuValProSerArgGluAlaHisGlnGlnSerLeuAlaCysIleValAsnTyrHisMetAspArgPheLysGluSerLeuThrLeuAsnValGlnTyrGluProGluValThrIleGluGlyPheAspGlyAsnTrpTyrLeuGlnArgMetAspValLysLeuThrCysLysAlaAspAlaAsnProProAlaThrGluTyrHisTrpThrThrLeuAsnGlySerLeuProLysGlyValGluAlaGlnAsnArgThrLeuPhePheLysGlyProIleAsnTyrSerLeuAlaGlyThrTyrIleCysGluAlaThrAsnProIleGlyThrArgSerGlyGlnValGluValAsnIleThrGluPheProTyrThrProSerProProGluHisGlyArgArgAlaGlyProValProThrAlaIleIleGlyGlyValAlaGlySerIleLeuLeuValLeuIleValValGlyGlyIleValValAlaLeuArgArgArgArgHisThrPheLysGlyAspTyrSerThrLysLysHisValTyrGlyAsnGlyTyrSerLysAlaGlyIleProGlnHisHisProProMetAlaGlnAsnLeuGlnTyrProAspAspSerAspAspGluLysLysAlaGlyProLeuGlyGlySerSerTyrGluGluGluGluGluGluGluGluGlyGlyGlyGlyGlyGluArgLysValGlyGlyProHisProLysTyrAspGluAspAlaLysArgProTyrPheThrValAspGluAlaGluAlaArgGlnAspGlyTyrGlyAspArgThrLeuGlyTyrGlnTyrAspProGluGlnLeuAspLeuAlaGluAsnMetValSerGlnAsnAspGlySerPheIleSerLysLysGluTrpTyrValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251397"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 554,
          "referenceAllele": "G",
          "start": 553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009706",
      "geneNCBI_id": 5818,
      "geneSymbol": "NECTIN1",
      "hgvs": [
        "ENST00000340882.2:c.554G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345289.2:p.Trp185Ter",
        "hgvsWellDefined": "ENSP00000345289.2:p.Trp185_Phe352delinsGluThrArgLeuLysGlyGluAlaGluTyrGlnGluIleArgAsnProAsnGlyThrValThrValIleSerArgTyrArgLeuValProSerArgGluAlaHisGlnGlnSerLeuAlaCysIleValAsnTyrHisMetAspArgPheLysGluSerLeuThrLeuAsnValGlnTyrGluProGluValThrIleGluGlyPheAspGlyAsnTrpTyrLeuGlnArgMetAspValLysLeuThrCysLysAlaAspAlaAsnProProAlaThrGluTyrHisTrpThrThrLeuAsnGlySerLeuProLysGlyValGluAlaGlnAsnArgThrLeuPhePheLysGlyProIleAsnTyrSerLeuAlaGlyThrTyrIleCysGluAlaThrAsnProIleGlyThrArgSerGlyGlnValGluValAsnIleThrAlaPheCysGlnLeuIleTyrProGlyLysGlyArgThrArgAlaArgMetPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261199"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 554,
          "referenceAllele": "G",
          "start": 553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009706",
      "geneNCBI_id": 5818,
      "geneSymbol": "NECTIN1",
      "hgvs": [
        "ENST00000341398.6:c.554G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344974.2:p.Trp185Ter",
        "hgvsWellDefined": "ENSP00000344974.2:p.Trp185_Pro458delinsGluThrArgLeuLysGlyGluAlaGluTyrGlnGluIleArgAsnProAsnGlyThrValThrValIleSerArgTyrArgLeuValProSerArgGluAlaHisGlnGlnSerLeuAlaCysIleValAsnTyrHisMetAspArgPheLysGluSerLeuThrLeuAsnValGlnTyrGluProGluValThrIleGluGlyPheAspGlyAsnTrpTyrLeuGlnArgMetAspValLysLeuThrCysLysAlaAspAlaAsnProProAlaThrGluTyrHisTrpThrThrLeuAsnGlySerLeuProLysGlyValGluAlaGlnAsnArgThrLeuPhePheLysGlyProIleAsnTyrSerLeuAlaGlyThrTyrIleCysGluAlaThrAsnProIleGlyThrArgSerGlyGlnValGluValAsnIleThrGluLysProArgProGlnArgGlyLeuGlySerAlaAlaArgLeuLeuAlaGlyThrValAlaValPheLeuIleLeuValAlaValLeuThrValPhePheLeuTyrAsnArgGlnGlnLysSerProProGluThrAspGlyAlaGlyThrAspGlnProLeuSerGlnLysProGluProSerProSerArgGlnSerSerLeuValProGluAspIleGlnValValHisLeuAspProGlyArgGlnGlnGlnGlnGluGluGluAspLeuGlnLysLeuSerLeuGlnProProTyrTyrAspLeuGlyValSerProSerTyrHisProSerValArgThrThrGluProArgGlyGluCysProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261320"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 528,
          "referenceAllele": "G",
          "start": 527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009706",
      "geneNCBI_id": 5818,
      "geneSymbol": "NECTIN1",
      "hgvs": [
        "ENST00000524510.1:n.528G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS350656"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829389478",
      "coordinates": [
        {
          "allele": "A",
          "end": 726,
          "referenceAllele": "G",
          "start": 725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009706",
      "geneNCBI_id": 5818,
      "geneSymbol": "NECTIN1",
      "hgvs": [
        "NM_002855.4:c.554G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002846.3:p.Trp185Ter",
        "hgvsWellDefined": "NP_002846.3:p.Trp185_Val517delinsGluThrArgLeuLysGlyGluAlaGluTyrGlnGluIleArgAsnProAsnGlyThrValThrValIleSerArgTyrArgLeuValProSerArgGluAlaHisGlnGlnSerLeuAlaCysIleValAsnTyrHisMetAspArgPheLysGluSerLeuThrLeuAsnValGlnTyrGluProGluValThrIleGluGlyPheAspGlyAsnTrpTyrLeuGlnArgMetAspValLysLeuThrCysLysAlaAspAlaAsnProProAlaThrGluTyrHisTrpThrThrLeuAsnGlySerLeuProLysGlyValGluAlaGlnAsnArgThrLeuPhePheLysGlyProIleAsnTyrSerLeuAlaGlyThrTyrIleCysGluAlaThrAsnProIleGlyThrArgSerGlyGlnValGluValAsnIleThrGluPheProTyrThrProSerProProGluHisGlyArgArgAlaGlyProValProThrAlaIleIleGlyGlyValAlaGlySerIleLeuLeuValLeuIleValValGlyGlyIleValValAlaLeuArgArgArgArgHisThrPheLysGlyAspTyrSerThrLysLysHisValTyrGlyAsnGlyTyrSerLysAlaGlyIleProGlnHisHisProProMetAlaGlnAsnLeuGlnTyrProAspAspSerAspAspGluLysLysAlaGlyProLeuGlyGlySerSerTyrGluGluGluGluGluGluGluGluGlyGlyGlyGlyGlyGluArgLysValGlyGlyProHisProLysTyrAspGluAspAlaLysArgProTyrPheThrValAspGluAlaGluAlaArgGlnAspGlyTyrGlyAspArgThrLeuGlyTyrGlnTyrAspProGluGlnLeuAspLeuAlaGluAsnMetValSerGlnAsnAspGlySerPheIleSerLysLysGluTrpTyrValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028142"
    },
    {
      "@id": "http://reg.genome.network/allele/PA120023",
      "coordinates": [
        {
          "allele": "A",
          "end": 726,
          "referenceAllele": "G",
          "start": 725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009706",
      "geneNCBI_id": 5818,
      "geneSymbol": "NECTIN1",
      "hgvs": [
        "NM_203285.1:c.554G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_976030.1:p.Trp185Ter",
        "hgvsWellDefined": "NP_976030.1:p.Trp185_Pro458delinsGluThrArgLeuLysGlyGluAlaGluTyrGlnGluIleArgAsnProAsnGlyThrValThrValIleSerArgTyrArgLeuValProSerArgGluAlaHisGlnGlnSerLeuAlaCysIleValAsnTyrHisMetAspArgPheLysGluSerLeuThrLeuAsnValGlnTyrGluProGluValThrIleGluGlyPheAspGlyAsnTrpTyrLeuGlnArgMetAspValLysLeuThrCysLysAlaAspAlaAsnProProAlaThrGluTyrHisTrpThrThrLeuAsnGlySerLeuProLysGlyValGluAlaGlnAsnArgThrLeuPhePheLysGlyProIleAsnTyrSerLeuAlaGlyThrTyrIleCysGluAlaThrAsnProIleGlyThrArgSerGlyGlnValGluValAsnIleThrGluLysProArgProGlnArgGlyLeuGlySerAlaAlaArgLeuLeuAlaGlyThrValAlaValPheLeuIleLeuValAlaValLeuThrValPhePheLeuTyrAsnArgGlnGlnLysSerProProGluThrAspGlyAlaGlyThrAspGlnProLeuSerGlnLysProGluProSerProSerArgGlnSerSerLeuValProGluAspIleGlnValValHisLeuAspProGlyArgGlnGlnGlnGlnGluGluGluAspLeuGlnLysLeuSerLeuGlnProProTyrTyrAspLeuGlyValSerProSerTyrHisProSerValArgThrThrGluProArgGlyGluCysProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045120"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916069257",
      "coordinates": [
        {
          "allele": "A",
          "end": 726,
          "referenceAllele": "G",
          "start": 725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009706",
      "geneNCBI_id": 5818,
      "geneSymbol": "NECTIN1",
      "hgvs": [
        "NM_203286.1:c.554G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_976031.1:p.Trp185Ter",
        "hgvsWellDefined": "NP_976031.1:p.Trp185_Phe352delinsGluThrArgLeuLysGlyGluAlaGluTyrGlnGluIleArgAsnProAsnGlyThrValThrValIleSerArgTyrArgLeuValProSerArgGluAlaHisGlnGlnSerLeuAlaCysIleValAsnTyrHisMetAspArgPheLysGluSerLeuThrLeuAsnValGlnTyrGluProGluValThrIleGluGlyPheAspGlyAsnTrpTyrLeuGlnArgMetAspValLysLeuThrCysLysAlaAspAlaAsnProProAlaThrGluTyrHisTrpThrThrLeuAsnGlySerLeuProLysGlyValGluAlaGlnAsnArgThrLeuPhePheLysGlyProIleAsnTyrSerLeuAlaGlyThrTyrIleCysGluAlaThrAsnProIleGlyThrArgSerGlyGlnValGluValAsnIleThrAlaPheCysGlnLeuIleTyrProGlyLysGlyArgThrArgAlaArgMetPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045121"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829389478",
      "coordinates": [
        {
          "allele": "A",
          "end": 1201,
          "referenceAllele": "G",
          "start": 1200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009706",
      "geneNCBI_id": 5818,
      "geneSymbol": "NECTIN1",
      "hgvs": [
        "NM_002855.5:c.554G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002846.3:p.Trp185Ter",
        "hgvsWellDefined": "NP_002846.3:p.Trp185_Val517delinsGluThrArgLeuLysGlyGluAlaGluTyrGlnGluIleArgAsnProAsnGlyThrValThrValIleSerArgTyrArgLeuValProSerArgGluAlaHisGlnGlnSerLeuAlaCysIleValAsnTyrHisMetAspArgPheLysGluSerLeuThrLeuAsnValGlnTyrGluProGluValThrIleGluGlyPheAspGlyAsnTrpTyrLeuGlnArgMetAspValLysLeuThrCysLysAlaAspAlaAsnProProAlaThrGluTyrHisTrpThrThrLeuAsnGlySerLeuProLysGlyValGluAlaGlnAsnArgThrLeuPhePheLysGlyProIleAsnTyrSerLeuAlaGlyThrTyrIleCysGluAlaThrAsnProIleGlyThrArgSerGlyGlnValGluValAsnIleThrGluPheProTyrThrProSerProProGluHisGlyArgArgAlaGlyProValProThrAlaIleIleGlyGlyValAlaGlySerIleLeuLeuValLeuIleValValGlyGlyIleValValAlaLeuArgArgArgArgHisThrPheLysGlyAspTyrSerThrLysLysHisValTyrGlyAsnGlyTyrSerLysAlaGlyIleProGlnHisHisProProMetAlaGlnAsnLeuGlnTyrProAspAspSerAspAspGluLysLysAlaGlyProLeuGlyGlySerSerTyrGluGluGluGluGluGluGluGluGlyGlyGlyGlyGlyGluArgLysValGlyGlyProHisProLysTyrAspGluAspAlaLysArgProTyrPheThrValAspGluAlaGluAlaArgGlnAspGlyTyrGlyAspArgThrLeuGlyTyrGlnTyrAspProGluGlnLeuAspLeuAlaGluAsnMetValSerGlnAsnAspGlySerPheIleSerLysLysGluTrpTyrValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665754",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264025.8:c.554G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002855.5:c.554G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264025.3:p.Trp185Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002846.3:p.Trp185Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA120023",
      "coordinates": [
        {
          "allele": "A",
          "end": 1201,
          "referenceAllele": "G",
          "start": 1200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009706",
      "geneNCBI_id": 5818,
      "geneSymbol": "NECTIN1",
      "hgvs": [
        "NM_203285.2:c.554G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_976030.1:p.Trp185Ter",
        "hgvsWellDefined": "NP_976030.1:p.Trp185_Pro458delinsGluThrArgLeuLysGlyGluAlaGluTyrGlnGluIleArgAsnProAsnGlyThrValThrValIleSerArgTyrArgLeuValProSerArgGluAlaHisGlnGlnSerLeuAlaCysIleValAsnTyrHisMetAspArgPheLysGluSerLeuThrLeuAsnValGlnTyrGluProGluValThrIleGluGlyPheAspGlyAsnTrpTyrLeuGlnArgMetAspValLysLeuThrCysLysAlaAspAlaAsnProProAlaThrGluTyrHisTrpThrThrLeuAsnGlySerLeuProLysGlyValGluAlaGlnAsnArgThrLeuPhePheLysGlyProIleAsnTyrSerLeuAlaGlyThrTyrIleCysGluAlaThrAsnProIleGlyThrArgSerGlyGlnValGluValAsnIleThrGluLysProArgProGlnArgGlyLeuGlySerAlaAlaArgLeuLeuAlaGlyThrValAlaValPheLeuIleLeuValAlaValLeuThrValPhePheLeuTyrAsnArgGlnGlnLysSerProProGluThrAspGlyAlaGlyThrAspGlnProLeuSerGlnLysProGluProSerProSerArgGlnSerSerLeuValProGluAspIleGlnValValHisLeuAspProGlyArgGlnGlnGlnGlnGluGluGluAspLeuGlnLysLeuSerLeuGlnProProTyrTyrAspLeuGlyValSerProSerTyrHisProSerValArgThrThrGluProArgGlyGluCysProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701610"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916069257",
      "coordinates": [
        {
          "allele": "A",
          "end": 1201,
          "referenceAllele": "G",
          "start": 1200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009706",
      "geneNCBI_id": 5818,
      "geneSymbol": "NECTIN1",
      "hgvs": [
        "NM_203286.2:c.554G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_976031.1:p.Trp185Ter",
        "hgvsWellDefined": "NP_976031.1:p.Trp185_Phe352delinsGluThrArgLeuLysGlyGluAlaGluTyrGlnGluIleArgAsnProAsnGlyThrValThrValIleSerArgTyrArgLeuValProSerArgGluAlaHisGlnGlnSerLeuAlaCysIleValAsnTyrHisMetAspArgPheLysGluSerLeuThrLeuAsnValGlnTyrGluProGluValThrIleGluGlyPheAspGlyAsnTrpTyrLeuGlnArgMetAspValLysLeuThrCysLysAlaAspAlaAsnProProAlaThrGluTyrHisTrpThrThrLeuAsnGlySerLeuProLysGlyValGluAlaGlnAsnArgThrLeuPhePheLysGlyProIleAsnTyrSerLeuAlaGlyThrTyrIleCysGluAlaThrAsnProIleGlyThrArgSerGlyGlnValGluValAsnIleThrAlaPheCysGlnLeuIleTyrProGlyLysGlyArgThrArgAlaArgMetPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701611"
    }
  ],
  "type": "nucleotide"
}