{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA377377258",
  "communityStandardTitle": [
    "NM_033100.4(CDHR1):c.1527T>G (p.Tyr509Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=431742[alleleid]",
        "alleleId": 431742,
        "preferredName": "NM_033100.4(CDHR1):c.1527T>G (p.Tyr509Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/438117",
        "RCV": [
          "RCV000504623",
          "RCV001857214"
        ],
        "variationId": 438117
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.85971445T>G?assembly=hg19",
        "id": "chr10:g.85971445T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.84211689T>G?assembly=hg38",
        "id": "chr10:g.84211689T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1477733493",
        "rs": 1477733493
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-85971445-T-G?dataset=gnomad_r2_1",
        "id": "10-85971445-T-G",
        "variant": "10:85971445 T / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-84211689-T-G?dataset=gnomad_r4",
        "id": "10-84211689-T-G",
        "variant": "10:84211689 T / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 84211689,
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      ],
      "hgvs": [
        "NC_000010.11:g.84211689T>G",
        "CM000672.2:g.84211689T>G"
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
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          "start": 85971444
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      ],
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      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
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          "start": 85961424
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      ],
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        "NC_000010.9:g.85961425T>G"
      ],
      "referenceGenome": "NCBI36",
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    },
    {
      "coordinates": [
        {
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      ],
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        "NG_028034.1:g.22034T>G"
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      "referenceSequence": "http://reg.genome.network/refseq/RS004047"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
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          "start": 1750
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      ],
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      "geneNCBI_id": 92211,
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      "hgvs": [
        "ENST00000623527.4:c.1527T>G"
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000485478.1:p.Tyr509_Phe859delinsSerThrTyrGlyThrGlyAlaAspLeuPheLeuIleHisProSerThrGlyLeuIleTyrThrGlnProTrpAlaSerLeuAspAlaGluAlaThrAlaArgTyrAsnPheTyrValLysAlaGluAspMetGluGlyLysTyrSerValAlaGluValPheIleThrLeuLeuAspValAsnAspHisProProGlnPheGlyLysSerValGlnLysLysThrMetValLeuGlyThrProValLysIleGluAlaIleAspGluAspAlaGluGluProAsnAsnLeuValAspTyrSerIleThrHisAlaGluProAlaAsnValPheAspIleAsnSerHisThrGlyGluIleTrpLeuLysAsnSerIleArgSerLeuAspAlaLeuHisAsnIleThrProGlyArgAspCysLeuTrpSerLeuGluValGlnAlaLysAspArgGlySerProSerPheSerThrThrAlaLeuLeuLysIleAspIleThrAspAlaGluThrLeuSerArgSerProMetAlaAlaPheLeuIleGlnThrLysAspAsnProMetLysAlaValGlyValLeuAlaGlyThrMetAlaThrValValAlaIleThrValLeuIleSerThrAlaThrPheTrpArgAsnLysLysSerAsnLysValLeuProMetArgArgValLeuArgLysArgProSerProAlaProArgThrIleArgIleGluTrpLeuLysSerLysSerThrLysAlaAlaThrLysPheMetLeuLysGluLysProProAsnGluAsnCysAsnAsnAsnSerProGluSerSerLeuLeuProArgAlaProAlaLeuProProProProSerValAlaProSerThrGlyAlaAlaGlnTrpThrValProThrValSerGlySerLeuThrProGlnProThrGlnProProProLysProLysThrMetGlySerProValGlnSerThrLeuIleSerGluLeuLysGlnLysPheGluLysLysSerValHisAsnLysAlaTyrPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762405",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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            "hgvs": "ENST00000623527.4:c.1527T>G"
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          "RefSeq": {
            "hgvs": "NM_033100.4:c.1527T>G"
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        },
        "protein": {
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            "hgvs": "ENSP00000485478.1:p.Tyr509Ter"
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          }
        }
      }
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    {
      "coordinates": [
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          "start": 1637
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      ],
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      "geneNCBI_id": 92211,
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000331063.3:p.Tyr509_Ser745delinsSerThrTyrGlyThrGlyAlaAspLeuPheLeuIleHisProSerThrGlyLeuIleTyrThrGlnProTrpAlaSerLeuAspAlaGluAlaThrAlaArgTyrAsnPheTyrValLysAlaGluAspMetGluGlyLysTyrSerValAlaGluValPheIleThrLeuLeuAspValAsnAspHisProProGlnPheGlyLysSerValGlnLysLysThrMetValLeuGlyThrProValLysIleGluAlaIleAspGluAspAlaGluGluProAsnAsnLeuValAspTyrSerIleThrHisAlaGluProAlaAsnValPheAspIleAsnSerHisThrGlyGluIleTrpLeuLysAsnSerIleArgSerLeuAspAlaLeuHisAsnIleThrProGlyArgAspCysLeuTrpSerLeuGluValGlnAlaLysAspArgGlySerProSerPheSerThrThrAlaLeuLeuLysIleAspIleThrAspAlaGluValArgArgLeuArgTyrMetLysAsnSerAsnPheProGlyThrThrLysSerValArgLysProLysPheLysProLysLysProHisSerSerGlnGlyLeuPheLeuHisProHisCysGluIleAlaLeuPheAsnLeuSerAsnValAsnLeuTyrSerArgValPheGlnGlyAlaAlaGlnAlaSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259638"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 742,
          "referenceAllele": "T",
          "start": 741
        }
      ],
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      "geneNCBI_id": 92211,
      "geneSymbol": "CDHR1",
      "hgvs": [
        "ENST00000372117.6:c.742T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS268930"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 260,
          "referenceAllele": "T",
          "start": 259
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      ],
      "gene": "http://reg.genome.network/gene/GN014550",
      "geneNCBI_id": 92211,
      "geneSymbol": "CDHR1",
      "hgvs": [
        "ENST00000622973.1:c.260T>G"
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      "referenceSequence": "http://reg.genome.network/refseq/RS405959"
    },
    {
      "coordinates": [
        {
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          "referenceAllele": "T",
          "start": 1652
        }
      ],
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      "geneNCBI_id": 92211,
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000485478.1:p.Tyr509_Phe859delinsSerThrTyrGlyThrGlyAlaAspLeuPheLeuIleHisProSerThrGlyLeuIleTyrThrGlnProTrpAlaSerLeuAspAlaGluAlaThrAlaArgTyrAsnPheTyrValLysAlaGluAspMetGluGlyLysTyrSerValAlaGluValPheIleThrLeuLeuAspValAsnAspHisProProGlnPheGlyLysSerValGlnLysLysThrMetValLeuGlyThrProValLysIleGluAlaIleAspGluAspAlaGluGluProAsnAsnLeuValAspTyrSerIleThrHisAlaGluProAlaAsnValPheAspIleAsnSerHisThrGlyGluIleTrpLeuLysAsnSerIleArgSerLeuAspAlaLeuHisAsnIleThrProGlyArgAspCysLeuTrpSerLeuGluValGlnAlaLysAspArgGlySerProSerPheSerThrThrAlaLeuLeuLysIleAspIleThrAspAlaGluThrLeuSerArgSerProMetAlaAlaPheLeuIleGlnThrLysAspAsnProMetLysAlaValGlyValLeuAlaGlyThrMetAlaThrValValAlaIleThrValLeuIleSerThrAlaThrPheTrpArgAsnLysLysSerAsnLysValLeuProMetArgArgValLeuArgLysArgProSerProAlaProArgThrIleArgIleGluTrpLeuLysSerLysSerThrLysAlaAlaThrLysPheMetLeuLysGluLysProProAsnGluAsnCysAsnAsnAsnSerProGluSerSerLeuLeuProArgAlaProAlaLeuProProProProSerValAlaProSerThrGlyAlaAlaGlnTrpThrValProThrValSerGlySerLeuThrProGlnProThrGlnProProProLysProLysThrMetGlySerProValGlnSerThrLeuIleSerGluLeuLysGlnLysPheGluLysLysSerValHisAsnLysAlaTyrPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406104"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826103308",
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        {
          "allele": "G",
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          "start": 1652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014550",
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      "hgvs": [
        "NM_001171971.2:c.1527T>G"
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      "proteinEffect": {
        "hgvs": "NP_001165442.1:p.Tyr509Ter",
        "hgvsWellDefined": "NP_001165442.1:p.Tyr509_Ser745delinsSerThrTyrGlyThrGlyAlaAspLeuPheLeuIleHisProSerThrGlyLeuIleTyrThrGlnProTrpAlaSerLeuAspAlaGluAlaThrAlaArgTyrAsnPheTyrValLysAlaGluAspMetGluGlyLysTyrSerValAlaGluValPheIleThrLeuLeuAspValAsnAspHisProProGlnPheGlyLysSerValGlnLysLysThrMetValLeuGlyThrProValLysIleGluAlaIleAspGluAspAlaGluGluProAsnAsnLeuValAspTyrSerIleThrHisAlaGluProAlaAsnValPheAspIleAsnSerHisThrGlyGluIleTrpLeuLysAsnSerIleArgSerLeuAspAlaLeuHisAsnIleThrProGlyArgAspCysLeuTrpSerLeuGluValGlnAlaLysAspArgGlySerProSerPheSerThrThrAlaLeuLeuLysIleAspIleThrAspAlaGluValArgArgLeuArgTyrMetLysAsnSerAsnPheProGlyThrThrLysSerValArgLysProLysPheLysProLysLysProHisSerSerGlnGlyLeuPheLeuHisProHisCysGluIleAlaLeuPheAsnLeuSerAsnValAsnLeuTyrSerArgValPheGlnGlyAlaAlaGlnAlaSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015410"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645510517",
      "coordinates": [
        {
          "allele": "G",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN014550",
      "geneNCBI_id": 92211,
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_149091.1:p.Tyr509_Phe859delinsSerThrTyrGlyThrGlyAlaAspLeuPheLeuIleHisProSerThrGlyLeuIleTyrThrGlnProTrpAlaSerLeuAspAlaGluAlaThrAlaArgTyrAsnPheTyrValLysAlaGluAspMetGluGlyLysTyrSerValAlaGluValPheIleThrLeuLeuAspValAsnAspHisProProGlnPheGlyLysSerValGlnLysLysThrMetValLeuGlyThrProValLysIleGluAlaIleAspGluAspAlaGluGluProAsnAsnLeuValAspTyrSerIleThrHisAlaGluProAlaAsnValPheAspIleAsnSerHisThrGlyGluIleTrpLeuLysAsnSerIleArgSerLeuAspAlaLeuHisAsnIleThrProGlyArgAspCysLeuTrpSerLeuGluValGlnAlaLysAspArgGlySerProSerPheSerThrThrAlaLeuLeuLysIleAspIleThrAspAlaGluThrLeuSerArgSerProMetAlaAlaPheLeuIleGlnThrLysAspAsnProMetLysAlaValGlyValLeuAlaGlyThrMetAlaThrValValAlaIleThrValLeuIleSerThrAlaThrPheTrpArgAsnLysLysSerAsnLysValLeuProMetArgArgValLeuArgLysArgProSerProAlaProArgThrIleArgIleGluTrpLeuLysSerLysSerThrLysAlaAlaThrLysPheMetLeuLysGluLysProProAsnGluAsnCysAsnAsnAsnSerProGluSerSerLeuLeuProArgAlaProAlaLeuProProProProSerValAlaProSerThrGlyAlaAlaGlnTrpThrValProThrValSerGlySerLeuThrProGlnProThrGlnProProProLysProLysThrMetGlySerProValGlnSerThrLeuIleSerGluLeuLysGlnLysPheGluLysLysSerValHisAsnLysAlaTyrPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039523"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2144,
          "referenceAllele": "T",
          "start": 2143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014550",
      "geneNCBI_id": 92211,
      "geneSymbol": "CDHR1",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011538639.1:p.Tyr567_Phe917delinsSerThrTyrGlyThrGlyAlaAspLeuPheLeuIleHisProSerThrGlyLeuIleTyrThrGlnProTrpAlaSerLeuAspAlaGluAlaThrAlaArgTyrAsnPheTyrValLysAlaGluAspMetGluGlyLysTyrSerValAlaGluValPheIleThrLeuLeuAspValAsnAspHisProProGlnPheGlyLysSerValGlnLysLysThrMetValLeuGlyThrProValLysIleGluAlaIleAspGluAspAlaGluGluProAsnAsnLeuValAspTyrSerIleThrHisAlaGluProAlaAsnValPheAspIleAsnSerHisThrGlyGluIleTrpLeuLysAsnSerIleArgSerLeuAspAlaLeuHisAsnIleThrProGlyArgAspCysLeuTrpSerLeuGluValGlnAlaLysAspArgGlySerProSerPheSerThrThrAlaLeuLeuLysIleAspIleThrAspAlaGluThrLeuSerArgSerProMetAlaAlaPheLeuIleGlnThrLysAspAsnProMetLysAlaValGlyValLeuAlaGlyThrMetAlaThrValValAlaIleThrValLeuIleSerThrAlaThrPheTrpArgAsnLysLysSerAsnLysValLeuProMetArgArgValLeuArgLysArgProSerProAlaProArgThrIleArgIleGluTrpLeuLysSerLysSerThrLysAlaAlaThrLysPheMetLeuLysGluLysProProAsnGluAsnCysAsnAsnAsnSerProGluSerSerLeuLeuProArgAlaProAlaLeuProProProProSerValAlaProSerThrGlyAlaAlaGlnTrpThrValProThrValSerGlySerLeuThrProGlnProThrGlnProProProLysProLysThrMetGlySerProValGlnSerThrLeuIleSerGluLeuLysGlnLysPheGluLysLysSerValHisAsnLysAlaTyrPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107285"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN014550",
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      "geneSymbol": "CDHR1",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "XP_011538640.1:p.Tyr567Ter",
        "hgvsWellDefined": "XP_011538640.1:p.Tyr567_Ser803delinsSerThrTyrGlyThrGlyAlaAspLeuPheLeuIleHisProSerThrGlyLeuIleTyrThrGlnProTrpAlaSerLeuAspAlaGluAlaThrAlaArgTyrAsnPheTyrValLysAlaGluAspMetGluGlyLysTyrSerValAlaGluValPheIleThrLeuLeuAspValAsnAspHisProProGlnPheGlyLysSerValGlnLysLysThrMetValLeuGlyThrProValLysIleGluAlaIleAspGluAspAlaGluGluProAsnAsnLeuValAspTyrSerIleThrHisAlaGluProAlaAsnValPheAspIleAsnSerHisThrGlyGluIleTrpLeuLysAsnSerIleArgSerLeuAspAlaLeuHisAsnIleThrProGlyArgAspCysLeuTrpSerLeuGluValGlnAlaLysAspArgGlySerProSerPheSerThrThrAlaLeuLeuLysIleAspIleThrAspAlaGluValArgArgLeuArgTyrMetLysAsnSerAsnPheProGlyThrThrLysSerValArgLysProLysPheLysProLysLysProHisSerSerGlnGlyLeuPheLeuHisProHisCysGluIleAlaLeuPheAsnLeuSerAsnValAsnLeuTyrSerArgValPheGlnGlyAlaAlaGlnAlaSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107286"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1459,
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          "start": 1458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014550",
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      "hgvs": [
        "XM_011540339.1:c.1080T>G"
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      "proteinEffect": {
        "hgvs": "XP_011538641.1:p.Tyr360Ter",
        "hgvsWellDefined": "XP_011538641.1:p.Tyr360_Phe710delinsSerThrTyrGlyThrGlyAlaAspLeuPheLeuIleHisProSerThrGlyLeuIleTyrThrGlnProTrpAlaSerLeuAspAlaGluAlaThrAlaArgTyrAsnPheTyrValLysAlaGluAspMetGluGlyLysTyrSerValAlaGluValPheIleThrLeuLeuAspValAsnAspHisProProGlnPheGlyLysSerValGlnLysLysThrMetValLeuGlyThrProValLysIleGluAlaIleAspGluAspAlaGluGluProAsnAsnLeuValAspTyrSerIleThrHisAlaGluProAlaAsnValPheAspIleAsnSerHisThrGlyGluIleTrpLeuLysAsnSerIleArgSerLeuAspAlaLeuHisAsnIleThrProGlyArgAspCysLeuTrpSerLeuGluValGlnAlaLysAspArgGlySerProSerPheSerThrThrAlaLeuLeuLysIleAspIleThrAspAlaGluThrLeuSerArgSerProMetAlaAlaPheLeuIleGlnThrLysAspAsnProMetLysAlaValGlyValLeuAlaGlyThrMetAlaThrValValAlaIleThrValLeuIleSerThrAlaThrPheTrpArgAsnLysLysSerAsnLysValLeuProMetArgArgValLeuArgLysArgProSerProAlaProArgThrIleArgIleGluTrpLeuLysSerLysSerThrLysAlaAlaThrLysPheMetLeuLysGluLysProProAsnGluAsnCysAsnAsnAsnSerProGluSerSerLeuLeuProArgAlaProAlaLeuProProProProSerValAlaProSerThrGlyAlaAlaGlnTrpThrValProThrValSerGlySerLeuThrProGlnProThrGlnProProProLysProLysThrMetGlySerProValGlnSerThrLeuIleSerGluLeuLysGlnLysPheGluLysLysSerValHisAsnLysAlaTyrPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107287"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2144,
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          "start": 2143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014550",
      "geneNCBI_id": 92211,
      "geneSymbol": "CDHR1",
      "hgvs": [
        "XM_011540340.1:c.1701T>G"
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      "proteinEffect": {
        "hgvs": "XP_011538642.1:p.Tyr567Ter",
        "hgvsWellDefined": "XP_011538642.1:p.Tyr567_Leu656delinsSerThrTyrGlyThrGlyAlaAspLeuPheLeuIleHisProSerThrGlyLeuIleTyrThrGlnProTrpAlaSerLeuAspAlaGluAlaThrAlaArgTyrAsnPheTyrValLysAlaGluAspMetGluGlyLysTyrSerValAlaGluValPheIleThrLeuLeuAspValAsnAspHisProProGlnPheGlyLysSerValGlnLysLysThrMetValLeuGlyThrProValLysIleGluArgIleLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107288"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2144,
          "referenceAllele": "T",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN014550",
      "geneNCBI_id": 92211,
      "geneSymbol": "CDHR1",
      "hgvs": [
        "XM_011540340.3:c.1701T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538642.1:p.Tyr567Ter",
        "hgvsWellDefined": "XP_011538642.1:p.Tyr567_Leu656delinsSerThrTyrGlyThrGlyAlaAspLeuPheLeuIleHisProSerThrGlyLeuIleTyrThrGlnProTrpAlaSerLeuAspAlaGluAlaThrAlaArgTyrAsnPheTyrValLysAlaGluAspMetGluGlyLysTyrSerValAlaGluValPheIleThrLeuLeuAspValAsnAspHisProProGlnPheGlyLysSerValGlnLysLysThrMetValLeuGlyThrProValLysIleGluArgIleLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553996"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645510517",
      "coordinates": [
        {
          "allele": "G",
          "end": 1751,
          "referenceAllele": "T",
          "start": 1750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014550",
      "geneNCBI_id": 92211,
      "geneSymbol": "CDHR1",
      "hgvs": [
        "NM_033100.4:c.1527T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_149091.1:p.Tyr509Ter",
        "hgvsWellDefined": "NP_149091.1:p.Tyr509_Phe859delinsSerThrTyrGlyThrGlyAlaAspLeuPheLeuIleHisProSerThrGlyLeuIleTyrThrGlnProTrpAlaSerLeuAspAlaGluAlaThrAlaArgTyrAsnPheTyrValLysAlaGluAspMetGluGlyLysTyrSerValAlaGluValPheIleThrLeuLeuAspValAsnAspHisProProGlnPheGlyLysSerValGlnLysLysThrMetValLeuGlyThrProValLysIleGluAlaIleAspGluAspAlaGluGluProAsnAsnLeuValAspTyrSerIleThrHisAlaGluProAlaAsnValPheAspIleAsnSerHisThrGlyGluIleTrpLeuLysAsnSerIleArgSerLeuAspAlaLeuHisAsnIleThrProGlyArgAspCysLeuTrpSerLeuGluValGlnAlaLysAspArgGlySerProSerPheSerThrThrAlaLeuLeuLysIleAspIleThrAspAlaGluThrLeuSerArgSerProMetAlaAlaPheLeuIleGlnThrLysAspAsnProMetLysAlaValGlyValLeuAlaGlyThrMetAlaThrValValAlaIleThrValLeuIleSerThrAlaThrPheTrpArgAsnLysLysSerAsnLysValLeuProMetArgArgValLeuArgLysArgProSerProAlaProArgThrIleArgIleGluTrpLeuLysSerLysSerThrLysAlaAlaThrLysPheMetLeuLysGluLysProProAsnGluAsnCysAsnAsnAsnSerProGluSerSerLeuLeuProArgAlaProAlaLeuProProProProSerValAlaProSerThrGlyAlaAlaGlnTrpThrValProThrValSerGlySerLeuThrProGlnProThrGlnProProProLysProLysThrMetGlySerProValGlnSerThrLeuIleSerGluLeuLysGlnLysPheGluLysLysSerValHisAsnLysAlaTyrPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671496",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000623527.4:c.1527T>G"
          },
          "RefSeq": {
            "hgvs": "NM_033100.4:c.1527T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000485478.1:p.Tyr509Ter"
          },
          "RefSeq": {
            "hgvs": "NP_149091.1:p.Tyr509Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826103308",
      "coordinates": [
        {
          "allele": "G",
          "end": 1751,
          "referenceAllele": "T",
          "start": 1750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014550",
      "geneNCBI_id": 92211,
      "geneSymbol": "CDHR1",
      "hgvs": [
        "NM_001171971.3:c.1527T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165442.1:p.Tyr509Ter",
        "hgvsWellDefined": "NP_001165442.1:p.Tyr509_Ser745delinsSerThrTyrGlyThrGlyAlaAspLeuPheLeuIleHisProSerThrGlyLeuIleTyrThrGlnProTrpAlaSerLeuAspAlaGluAlaThrAlaArgTyrAsnPheTyrValLysAlaGluAspMetGluGlyLysTyrSerValAlaGluValPheIleThrLeuLeuAspValAsnAspHisProProGlnPheGlyLysSerValGlnLysLysThrMetValLeuGlyThrProValLysIleGluAlaIleAspGluAspAlaGluGluProAsnAsnLeuValAspTyrSerIleThrHisAlaGluProAlaAsnValPheAspIleAsnSerHisThrGlyGluIleTrpLeuLysAsnSerIleArgSerLeuAspAlaLeuHisAsnIleThrProGlyArgAspCysLeuTrpSerLeuGluValGlnAlaLysAspArgGlySerProSerPheSerThrThrAlaLeuLeuLysIleAspIleThrAspAlaGluValArgArgLeuArgTyrMetLysAsnSerAsnPheProGlyThrThrLysSerValArgLysProLysPheLysProLysLysProHisSerSerGlnGlyLeuPheLeuHisProHisCysGluIleAlaLeuPheAsnLeuSerAsnValAsnLeuTyrSerArgValPheGlnGlyAlaAlaGlnAlaSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678730"
    }
  ],
  "type": "nucleotide"
}