{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA377373883",
  "communityStandardTitle": [
    "NM_033100.4(CDHR1):c.928C>T (p.Gln310Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1286936[alleleid]",
        "alleleId": 1286936,
        "preferredName": "NM_033100.4(CDHR1):c.928C>T (p.Gln310Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1297147",
        "RCV": [
          "RCV001724851",
          "RCV002227535",
          "RCV003222341"
        ],
        "variationId": 1297147
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.85965648C>T?assembly=hg19",
        "id": "chr10:g.85965648C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.84205892C>T?assembly=hg38",
        "id": "chr10:g.84205892C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1842216995",
        "rs": 1842216995
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-84205892-C-T?dataset=gnomad_r4",
        "id": "10-84205892-C-T",
        "variant": "10:84205892 C / T"
      }
    ]
  },
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      "chromosome": "10",
      "coordinates": [
        {
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          "end": 84205892,
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          "start": 84205891
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      ],
      "hgvs": [
        "NC_000010.11:g.84205892C>T",
        "CM000672.2:g.84205892C>T"
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
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          "end": 85965648,
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          "start": 85965647
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      ],
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
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          "end": 85955628,
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      ],
      "hgvs": [
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
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        "NG_028034.1:g.16237C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS004047"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS762405",
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        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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            "hgvs": "ENST00000623527.4:c.928C>T"
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          "RefSeq": {
            "hgvs": "NM_033100.4:c.928C>T"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259638"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 308,
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          "start": 307
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      ],
      "gene": "http://reg.genome.network/gene/GN014550",
      "geneNCBI_id": 92211,
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      "hgvs": [
        "ENST00000372117.6:c.308C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS268930"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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        }
      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS406104"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 214,
          "referenceAllele": "C",
          "start": 213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014550",
      "geneNCBI_id": 92211,
      "geneSymbol": "CDHR1",
      "hgvs": [
        "ENST00000624091.1:c.214C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS406245"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826103110",
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        {
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      ],
      "gene": "http://reg.genome.network/gene/GN014550",
      "geneNCBI_id": 92211,
      "geneSymbol": "CDHR1",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001165442.1:p.Gln310_Ser745delinsLeuGlnArgGluValTyrGluLeuHisValGlnValThrGluMetSerProAlaGlySerProAlaAlaGlnAlaThrValProValThrIleArgIleValAspLeuAsnAsnHisProProThrPheTyrGlyGluSerGlyProGlnAsnArgPheGluLeuSerMetAsnGluHisProProGlnGlyGluIleLeuArgGlyLeuLysIleThrValAsnAspSerAspGlnGlyAlaAsnAlaLysPheAsnLeuGlnLeuValGlyProArgGlyIlePheArgValValProGlnThrValLeuAsnGluAlaGlnValThrIleIleValGluAsnSerAlaAlaIleAspPheGluLysSerLysValLeuThrPheLysLeuLeuAlaValGluValAsnThrProGluLysPheSerSerThrAlaAspValValIleGlnLeuLeuAspThrAsnAspAsnValProLysPheAspSerLeuTyrTyrValAlaArgIleProGluAsnAlaProGlyGlySerSerValValAlaValThrAlaValAspProAspThrGlyProTrpGlyGluValLysTyrSerThrTyrGlyThrGlyAlaAspLeuPheLeuIleHisProSerThrGlyLeuIleTyrThrGlnProTrpAlaSerLeuAspAlaGluAlaThrAlaArgTyrAsnPheTyrValLysAlaGluAspMetGluGlyLysTyrSerValAlaGluValPheIleThrLeuLeuAspValAsnAspHisProProGlnPheGlyLysSerValGlnLysLysThrMetValLeuGlyThrProValLysIleGluAlaIleAspGluAspAlaGluGluProAsnAsnLeuValAspTyrSerIleThrHisAlaGluProAlaAsnValPheAspIleAsnSerHisThrGlyGluIleTrpLeuLysAsnSerIleArgSerLeuAspAlaLeuHisAsnIleThrProGlyArgAspCysLeuTrpSerLeuGluValGlnAlaLysAspArgGlySerProSerPheSerThrThrAlaLeuLeuLysIleAspIleThrAspAlaGluValArgArgLeuArgTyrMetLysAsnSerAsnPheProGlyThrThrLysSerValArgLysProLysPheLysProLysLysProHisSerSerGlnGlyLeuPheLeuHisProHisCysGluIleAlaLeuPheAsnLeuSerAsnValAsnLeuTyrSerArgValPheGlnGlyAlaAlaGlnAlaSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015410"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499294683",
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        {
          "allele": "T",
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          "referenceAllele": "C",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN014550",
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_149091.1:p.Gln310_Phe859delinsLeuGlnArgGluValTyrGluLeuHisValGlnValThrGluMetSerProAlaGlySerProAlaAlaGlnAlaThrValProValThrIleArgIleValAspLeuAsnAsnHisProProThrPheTyrGlyGluSerGlyProGlnAsnArgPheGluLeuSerMetAsnGluHisProProGlnGlyGluIleLeuArgGlyLeuLysIleThrValAsnAspSerAspGlnGlyAlaAsnAlaLysPheAsnLeuGlnLeuValGlyProArgGlyIlePheArgValValProGlnThrValLeuAsnGluAlaGlnValThrIleIleValGluAsnSerAlaAlaIleAspPheGluLysSerLysValLeuThrPheLysLeuLeuAlaValGluValAsnThrProGluLysPheSerSerThrAlaAspValValIleGlnLeuLeuAspThrAsnAspAsnValProLysPheAspSerLeuTyrTyrValAlaArgIleProGluAsnAlaProGlyGlySerSerValValAlaValThrAlaValAspProAspThrGlyProTrpGlyGluValLysTyrSerThrTyrGlyThrGlyAlaAspLeuPheLeuIleHisProSerThrGlyLeuIleTyrThrGlnProTrpAlaSerLeuAspAlaGluAlaThrAlaArgTyrAsnPheTyrValLysAlaGluAspMetGluGlyLysTyrSerValAlaGluValPheIleThrLeuLeuAspValAsnAspHisProProGlnPheGlyLysSerValGlnLysLysThrMetValLeuGlyThrProValLysIleGluAlaIleAspGluAspAlaGluGluProAsnAsnLeuValAspTyrSerIleThrHisAlaGluProAlaAsnValPheAspIleAsnSerHisThrGlyGluIleTrpLeuLysAsnSerIleArgSerLeuAspAlaLeuHisAsnIleThrProGlyArgAspCysLeuTrpSerLeuGluValGlnAlaLysAspArgGlySerProSerPheSerThrThrAlaLeuLeuLysIleAspIleThrAspAlaGluThrLeuSerArgSerProMetAlaAlaPheLeuIleGlnThrLysAspAsnProMetLysAlaValGlyValLeuAlaGlyThrMetAlaThrValValAlaIleThrValLeuIleSerThrAlaThrPheTrpArgAsnLysLysSerAsnLysValLeuProMetArgArgValLeuArgLysArgProSerProAlaProArgThrIleArgIleGluTrpLeuLysSerLysSerThrLysAlaAlaThrLysPheMetLeuLysGluLysProProAsnGluAsnCysAsnAsnAsnSerProGluSerSerLeuLeuProArgAlaProAlaLeuProProProProSerValAlaProSerThrGlyAlaAlaGlnTrpThrValProThrValSerGlySerLeuThrProGlnProThrGlnProProProLysProLysThrMetGlySerProValGlnSerThrLeuIleSerGluLeuLysGlnLysPheGluLysLysSerValHisAsnLysAlaTyrPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039523"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1545,
          "referenceAllele": "C",
          "start": 1544
        }
      ],
      "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.Gln368_Phe917delinsLeuGlnArgGluValTyrGluLeuHisValGlnValThrGluMetSerProAlaGlySerProAlaAlaGlnAlaThrValProValThrIleArgIleValAspLeuAsnAsnHisProProThrPheTyrGlyGluSerGlyProGlnAsnArgPheGluLeuSerMetAsnGluHisProProGlnGlyGluIleLeuArgGlyLeuLysIleThrValAsnAspSerAspGlnGlyAlaAsnAlaLysPheAsnLeuGlnLeuValGlyProArgGlyIlePheArgValValProGlnThrValLeuAsnGluAlaGlnValThrIleIleValGluAsnSerAlaAlaIleAspPheGluLysSerLysValLeuThrPheLysLeuLeuAlaValGluValAsnThrProGluLysPheSerSerThrAlaAspValValIleGlnLeuLeuAspThrAsnAspAsnValProLysPheAspSerLeuTyrTyrValAlaArgIleProGluAsnAlaProGlyGlySerSerValValAlaValThrAlaValAspProAspThrGlyProTrpGlyGluValLysTyrSerThrTyrGlyThrGlyAlaAspLeuPheLeuIleHisProSerThrGlyLeuIleTyrThrGlnProTrpAlaSerLeuAspAlaGluAlaThrAlaArgTyrAsnPheTyrValLysAlaGluAspMetGluGlyLysTyrSerValAlaGluValPheIleThrLeuLeuAspValAsnAspHisProProGlnPheGlyLysSerValGlnLysLysThrMetValLeuGlyThrProValLysIleGluAlaIleAspGluAspAlaGluGluProAsnAsnLeuValAspTyrSerIleThrHisAlaGluProAlaAsnValPheAspIleAsnSerHisThrGlyGluIleTrpLeuLysAsnSerIleArgSerLeuAspAlaLeuHisAsnIleThrProGlyArgAspCysLeuTrpSerLeuGluValGlnAlaLysAspArgGlySerProSerPheSerThrThrAlaLeuLeuLysIleAspIleThrAspAlaGluThrLeuSerArgSerProMetAlaAlaPheLeuIleGlnThrLysAspAsnProMetLysAlaValGlyValLeuAlaGlyThrMetAlaThrValValAlaIleThrValLeuIleSerThrAlaThrPheTrpArgAsnLysLysSerAsnLysValLeuProMetArgArgValLeuArgLysArgProSerProAlaProArgThrIleArgIleGluTrpLeuLysSerLysSerThrLysAlaAlaThrLysPheMetLeuLysGluLysProProAsnGluAsnCysAsnAsnAsnSerProGluSerSerLeuLeuProArgAlaProAlaLeuProProProProSerValAlaProSerThrGlyAlaAlaGlnTrpThrValProThrValSerGlySerLeuThrProGlnProThrGlnProProProLysProLysThrMetGlySerProValGlnSerThrLeuIleSerGluLeuLysGlnLysPheGluLysLysSerValHisAsnLysAlaTyrPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107285"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1545,
          "referenceAllele": "C",
          "start": 1544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014550",
      "geneNCBI_id": 92211,
      "geneSymbol": "CDHR1",
      "hgvs": [
        "XM_011540338.1:c.1102C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538640.1:p.Gln368Ter",
        "hgvsWellDefined": "XP_011538640.1:p.Gln368_Ser803delinsLeuGlnArgGluValTyrGluLeuHisValGlnValThrGluMetSerProAlaGlySerProAlaAlaGlnAlaThrValProValThrIleArgIleValAspLeuAsnAsnHisProProThrPheTyrGlyGluSerGlyProGlnAsnArgPheGluLeuSerMetAsnGluHisProProGlnGlyGluIleLeuArgGlyLeuLysIleThrValAsnAspSerAspGlnGlyAlaAsnAlaLysPheAsnLeuGlnLeuValGlyProArgGlyIlePheArgValValProGlnThrValLeuAsnGluAlaGlnValThrIleIleValGluAsnSerAlaAlaIleAspPheGluLysSerLysValLeuThrPheLysLeuLeuAlaValGluValAsnThrProGluLysPheSerSerThrAlaAspValValIleGlnLeuLeuAspThrAsnAspAsnValProLysPheAspSerLeuTyrTyrValAlaArgIleProGluAsnAlaProGlyGlySerSerValValAlaValThrAlaValAspProAspThrGlyProTrpGlyGluValLysTyrSerThrTyrGlyThrGlyAlaAspLeuPheLeuIleHisProSerThrGlyLeuIleTyrThrGlnProTrpAlaSerLeuAspAlaGluAlaThrAlaArgTyrAsnPheTyrValLysAlaGluAspMetGluGlyLysTyrSerValAlaGluValPheIleThrLeuLeuAspValAsnAspHisProProGlnPheGlyLysSerValGlnLysLysThrMetValLeuGlyThrProValLysIleGluAlaIleAspGluAspAlaGluGluProAsnAsnLeuValAspTyrSerIleThrHisAlaGluProAlaAsnValPheAspIleAsnSerHisThrGlyGluIleTrpLeuLysAsnSerIleArgSerLeuAspAlaLeuHisAsnIleThrProGlyArgAspCysLeuTrpSerLeuGluValGlnAlaLysAspArgGlySerProSerPheSerThrThrAlaLeuLeuLysIleAspIleThrAspAlaGluValArgArgLeuArgTyrMetLysAsnSerAsnPheProGlyThrThrLysSerValArgLysProLysPheLysProLysLysProHisSerSerGlnGlyLeuPheLeuHisProHisCysGluIleAlaLeuPheAsnLeuSerAsnValAsnLeuTyrSerArgValPheGlnGlyAlaAlaGlnAlaSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107286"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 860,
          "referenceAllele": "C",
          "start": 859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014550",
      "geneNCBI_id": 92211,
      "geneSymbol": "CDHR1",
      "hgvs": [
        "XM_011540339.1:c.481C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538641.1:p.Gln161Ter",
        "hgvsWellDefined": "XP_011538641.1:p.Gln161_Phe710delinsLeuGlnArgGluValTyrGluLeuHisValGlnValThrGluMetSerProAlaGlySerProAlaAlaGlnAlaThrValProValThrIleArgIleValAspLeuAsnAsnHisProProThrPheTyrGlyGluSerGlyProGlnAsnArgPheGluLeuSerMetAsnGluHisProProGlnGlyGluIleLeuArgGlyLeuLysIleThrValAsnAspSerAspGlnGlyAlaAsnAlaLysPheAsnLeuGlnLeuValGlyProArgGlyIlePheArgValValProGlnThrValLeuAsnGluAlaGlnValThrIleIleValGluAsnSerAlaAlaIleAspPheGluLysSerLysValLeuThrPheLysLeuLeuAlaValGluValAsnThrProGluLysPheSerSerThrAlaAspValValIleGlnLeuLeuAspThrAsnAspAsnValProLysPheAspSerLeuTyrTyrValAlaArgIleProGluAsnAlaProGlyGlySerSerValValAlaValThrAlaValAspProAspThrGlyProTrpGlyGluValLysTyrSerThrTyrGlyThrGlyAlaAspLeuPheLeuIleHisProSerThrGlyLeuIleTyrThrGlnProTrpAlaSerLeuAspAlaGluAlaThrAlaArgTyrAsnPheTyrValLysAlaGluAspMetGluGlyLysTyrSerValAlaGluValPheIleThrLeuLeuAspValAsnAspHisProProGlnPheGlyLysSerValGlnLysLysThrMetValLeuGlyThrProValLysIleGluAlaIleAspGluAspAlaGluGluProAsnAsnLeuValAspTyrSerIleThrHisAlaGluProAlaAsnValPheAspIleAsnSerHisThrGlyGluIleTrpLeuLysAsnSerIleArgSerLeuAspAlaLeuHisAsnIleThrProGlyArgAspCysLeuTrpSerLeuGluValGlnAlaLysAspArgGlySerProSerPheSerThrThrAlaLeuLeuLysIleAspIleThrAspAlaGluThrLeuSerArgSerProMetAlaAlaPheLeuIleGlnThrLysAspAsnProMetLysAlaValGlyValLeuAlaGlyThrMetAlaThrValValAlaIleThrValLeuIleSerThrAlaThrPheTrpArgAsnLysLysSerAsnLysValLeuProMetArgArgValLeuArgLysArgProSerProAlaProArgThrIleArgIleGluTrpLeuLysSerLysSerThrLysAlaAlaThrLysPheMetLeuLysGluLysProProAsnGluAsnCysAsnAsnAsnSerProGluSerSerLeuLeuProArgAlaProAlaLeuProProProProSerValAlaProSerThrGlyAlaAlaGlnTrpThrValProThrValSerGlySerLeuThrProGlnProThrGlnProProProLysProLysThrMetGlySerProValGlnSerThrLeuIleSerGluLeuLysGlnLysPheGluLysLysSerValHisAsnLysAlaTyrPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107287"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1545,
          "referenceAllele": "C",
          "start": 1544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014550",
      "geneNCBI_id": 92211,
      "geneSymbol": "CDHR1",
      "hgvs": [
        "XM_011540340.1:c.1102C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538642.1:p.Gln368Ter",
        "hgvsWellDefined": "XP_011538642.1:p.Gln368_Leu656delinsLeuGlnArgGluValTyrGluLeuHisValGlnValThrGluMetSerProAlaGlySerProAlaAlaGlnAlaThrValProValThrIleArgIleValAspLeuAsnAsnHisProProThrPheTyrGlyGluSerGlyProGlnAsnArgPheGluLeuSerMetAsnGluHisProProGlnGlyGluIleLeuArgGlyLeuLysIleThrValAsnAspSerAspGlnGlyAlaAsnAlaLysPheAsnLeuGlnLeuValGlyProArgGlyIlePheArgValValProGlnThrValLeuAsnGluAlaGlnValThrIleIleValGluAsnSerAlaAlaIleAspPheGluLysSerLysValLeuThrPheLysLeuLeuAlaValGluValAsnThrProGluLysPheSerSerThrAlaAspValValIleGlnLeuLeuAspThrAsnAspAsnValProLysPheAspSerLeuTyrTyrValAlaArgIleProGluAsnAlaProGlyGlySerSerValValAlaValThrAlaValAspProAspThrGlyProTrpGlyGluValLysTyrSerThrTyrGlyThrGlyAlaAspLeuPheLeuIleHisProSerThrGlyLeuIleTyrThrGlnProTrpAlaSerLeuAspAlaGluAlaThrAlaArgTyrAsnPheTyrValLysAlaGluAspMetGluGlyLysTyrSerValAlaGluValPheIleThrLeuLeuAspValAsnAspHisProProGlnPheGlyLysSerValGlnLysLysThrMetValLeuGlyThrProValLysIleGluArgIleLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107288"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1545,
          "referenceAllele": "C",
          "start": 1544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014550",
      "geneNCBI_id": 92211,
      "geneSymbol": "CDHR1",
      "hgvs": [
        "XM_011540340.3:c.1102C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538642.1:p.Gln368Ter",
        "hgvsWellDefined": "XP_011538642.1:p.Gln368_Leu656delinsLeuGlnArgGluValTyrGluLeuHisValGlnValThrGluMetSerProAlaGlySerProAlaAlaGlnAlaThrValProValThrIleArgIleValAspLeuAsnAsnHisProProThrPheTyrGlyGluSerGlyProGlnAsnArgPheGluLeuSerMetAsnGluHisProProGlnGlyGluIleLeuArgGlyLeuLysIleThrValAsnAspSerAspGlnGlyAlaAsnAlaLysPheAsnLeuGlnLeuValGlyProArgGlyIlePheArgValValProGlnThrValLeuAsnGluAlaGlnValThrIleIleValGluAsnSerAlaAlaIleAspPheGluLysSerLysValLeuThrPheLysLeuLeuAlaValGluValAsnThrProGluLysPheSerSerThrAlaAspValValIleGlnLeuLeuAspThrAsnAspAsnValProLysPheAspSerLeuTyrTyrValAlaArgIleProGluAsnAlaProGlyGlySerSerValValAlaValThrAlaValAspProAspThrGlyProTrpGlyGluValLysTyrSerThrTyrGlyThrGlyAlaAspLeuPheLeuIleHisProSerThrGlyLeuIleTyrThrGlnProTrpAlaSerLeuAspAlaGluAlaThrAlaArgTyrAsnPheTyrValLysAlaGluAspMetGluGlyLysTyrSerValAlaGluValPheIleThrLeuLeuAspValAsnAspHisProProGlnPheGlyLysSerValGlnLysLysThrMetValLeuGlyThrProValLysIleGluArgIleLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553996"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499294683",
      "coordinates": [
        {
          "allele": "T",
          "end": 1152,
          "referenceAllele": "C",
          "start": 1151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014550",
      "geneNCBI_id": 92211,
      "geneSymbol": "CDHR1",
      "hgvs": [
        "NM_033100.4:c.928C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_149091.1:p.Gln310Ter",
        "hgvsWellDefined": "NP_149091.1:p.Gln310_Phe859delinsLeuGlnArgGluValTyrGluLeuHisValGlnValThrGluMetSerProAlaGlySerProAlaAlaGlnAlaThrValProValThrIleArgIleValAspLeuAsnAsnHisProProThrPheTyrGlyGluSerGlyProGlnAsnArgPheGluLeuSerMetAsnGluHisProProGlnGlyGluIleLeuArgGlyLeuLysIleThrValAsnAspSerAspGlnGlyAlaAsnAlaLysPheAsnLeuGlnLeuValGlyProArgGlyIlePheArgValValProGlnThrValLeuAsnGluAlaGlnValThrIleIleValGluAsnSerAlaAlaIleAspPheGluLysSerLysValLeuThrPheLysLeuLeuAlaValGluValAsnThrProGluLysPheSerSerThrAlaAspValValIleGlnLeuLeuAspThrAsnAspAsnValProLysPheAspSerLeuTyrTyrValAlaArgIleProGluAsnAlaProGlyGlySerSerValValAlaValThrAlaValAspProAspThrGlyProTrpGlyGluValLysTyrSerThrTyrGlyThrGlyAlaAspLeuPheLeuIleHisProSerThrGlyLeuIleTyrThrGlnProTrpAlaSerLeuAspAlaGluAlaThrAlaArgTyrAsnPheTyrValLysAlaGluAspMetGluGlyLysTyrSerValAlaGluValPheIleThrLeuLeuAspValAsnAspHisProProGlnPheGlyLysSerValGlnLysLysThrMetValLeuGlyThrProValLysIleGluAlaIleAspGluAspAlaGluGluProAsnAsnLeuValAspTyrSerIleThrHisAlaGluProAlaAsnValPheAspIleAsnSerHisThrGlyGluIleTrpLeuLysAsnSerIleArgSerLeuAspAlaLeuHisAsnIleThrProGlyArgAspCysLeuTrpSerLeuGluValGlnAlaLysAspArgGlySerProSerPheSerThrThrAlaLeuLeuLysIleAspIleThrAspAlaGluThrLeuSerArgSerProMetAlaAlaPheLeuIleGlnThrLysAspAsnProMetLysAlaValGlyValLeuAlaGlyThrMetAlaThrValValAlaIleThrValLeuIleSerThrAlaThrPheTrpArgAsnLysLysSerAsnLysValLeuProMetArgArgValLeuArgLysArgProSerProAlaProArgThrIleArgIleGluTrpLeuLysSerLysSerThrLysAlaAlaThrLysPheMetLeuLysGluLysProProAsnGluAsnCysAsnAsnAsnSerProGluSerSerLeuLeuProArgAlaProAlaLeuProProProProSerValAlaProSerThrGlyAlaAlaGlnTrpThrValProThrValSerGlySerLeuThrProGlnProThrGlnProProProLysProLysThrMetGlySerProValGlnSerThrLeuIleSerGluLeuLysGlnLysPheGluLysLysSerValHisAsnLysAlaTyrPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671496",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000623527.4:c.928C>T"
          },
          "RefSeq": {
            "hgvs": "NM_033100.4:c.928C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000485478.1:p.Gln310Ter"
          },
          "RefSeq": {
            "hgvs": "NP_149091.1:p.Gln310Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826103110",
      "coordinates": [
        {
          "allele": "T",
          "end": 1152,
          "referenceAllele": "C",
          "start": 1151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014550",
      "geneNCBI_id": 92211,
      "geneSymbol": "CDHR1",
      "hgvs": [
        "NM_001171971.3:c.928C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165442.1:p.Gln310Ter",
        "hgvsWellDefined": "NP_001165442.1:p.Gln310_Ser745delinsLeuGlnArgGluValTyrGluLeuHisValGlnValThrGluMetSerProAlaGlySerProAlaAlaGlnAlaThrValProValThrIleArgIleValAspLeuAsnAsnHisProProThrPheTyrGlyGluSerGlyProGlnAsnArgPheGluLeuSerMetAsnGluHisProProGlnGlyGluIleLeuArgGlyLeuLysIleThrValAsnAspSerAspGlnGlyAlaAsnAlaLysPheAsnLeuGlnLeuValGlyProArgGlyIlePheArgValValProGlnThrValLeuAsnGluAlaGlnValThrIleIleValGluAsnSerAlaAlaIleAspPheGluLysSerLysValLeuThrPheLysLeuLeuAlaValGluValAsnThrProGluLysPheSerSerThrAlaAspValValIleGlnLeuLeuAspThrAsnAspAsnValProLysPheAspSerLeuTyrTyrValAlaArgIleProGluAsnAlaProGlyGlySerSerValValAlaValThrAlaValAspProAspThrGlyProTrpGlyGluValLysTyrSerThrTyrGlyThrGlyAlaAspLeuPheLeuIleHisProSerThrGlyLeuIleTyrThrGlnProTrpAlaSerLeuAspAlaGluAlaThrAlaArgTyrAsnPheTyrValLysAlaGluAspMetGluGlyLysTyrSerValAlaGluValPheIleThrLeuLeuAspValAsnAspHisProProGlnPheGlyLysSerValGlnLysLysThrMetValLeuGlyThrProValLysIleGluAlaIleAspGluAspAlaGluGluProAsnAsnLeuValAspTyrSerIleThrHisAlaGluProAlaAsnValPheAspIleAsnSerHisThrGlyGluIleTrpLeuLysAsnSerIleArgSerLeuAspAlaLeuHisAsnIleThrProGlyArgAspCysLeuTrpSerLeuGluValGlnAlaLysAspArgGlySerProSerPheSerThrThrAlaLeuLeuLysIleAspIleThrAspAlaGluValArgArgLeuArgTyrMetLysAsnSerAsnPheProGlyThrThrLysSerValArgLysProLysPheLysProLysLysProHisSerSerGlnGlyLeuPheLeuHisProHisCysGluIleAlaLeuPheAsnLeuSerAsnValAsnLeuTyrSerArgValPheGlnGlyAlaAlaGlnAlaSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678730"
    }
  ],
  "type": "nucleotide"
}