{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10410278",
  "communityStandardTitle": [
    "NM_001256789.3(CACNA1F):c.4051C>T (p.Arg1351Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=800655[alleleid]",
        "alleleId": 800655,
        "preferredName": "NM_001256789.3(CACNA1F):c.4051C>T (p.Arg1351Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/812245",
        "RCV": [
          "RCV001002912",
          "RCV001212865",
          "RCV002286797"
        ],
        "variationId": 812245
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-49068407-G-A",
        "id": "X-49068407-G-A",
        "variant": "X:49068407 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.49068407G>A?assembly=hg19",
        "id": "chrX:g.49068407G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.49211947G>A?assembly=hg38",
        "id": "chrX:g.49211947G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/782740998",
        "rs": 782740998
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-49211947-G-A?dataset=gnomad_r4",
        "id": "X-49211947-G-A",
        "variant": "X:49211947 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 49211947,
          "referenceAllele": "G",
          "start": 49211946
        }
      ],
      "hgvs": [
        "NC_000023.11:g.49211947G>A",
        "CM000685.2:g.49211947G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 49068407,
          "referenceAllele": "G",
          "start": 49068406
        }
      ],
      "hgvs": [
        "NC_000023.10:g.49068407G>A",
        "CM000685.1:g.49068407G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 48955351,
          "referenceAllele": "G",
          "start": 48955350
        }
      ],
      "hgvs": [
        "NC_000023.9:g.48955351G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26420,
          "referenceAllele": "C",
          "start": 26419
        }
      ],
      "hgvs": [
        "NG_009095.2:g.26420C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001428"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4082,
          "referenceAllele": "C",
          "start": 4081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001393",
      "geneNCBI_id": 778,
      "geneSymbol": "CACNA1F",
      "hgvs": [
        "ENST00000323022.10:c.4051C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000321618.6:p.Arg1351Ter",
        "hgvsWellDefined": "ENSP00000321618.6:p.Arg1351_Leu1966delinsAsnAsnAsnPheGlnThrPheProGlnAlaValLeuLeuLeuPheArgCysAlaThrGlyGluAlaTrpGlnGluIleMetLeuAlaSerLeuProGlyAsnArgCysAspProGluSerAspPheGlyProGlyGluGluPheThrCysGlySerAsnPheAlaIleAlaTyrPheIleSerPhePheMetLeuCysAlaPheLeuIleIleAsnLeuPheValAlaValIleMetAspAsnPheAspTyrLeuThrArgAspTrpSerIleLeuGlyProHisHisLeuAspGluPheLysArgIleTrpSerGluTyrAspProGlyAlaLysGlyArgIleLysHisLeuAspValValAlaLeuLeuArgArgIleGlnProProLeuGlyPheGlyLysLeuCysProHisArgValAlaCysLysArgLeuValAlaMetAsnMetProLeuAsnSerAspGlyThrValThrPheAsnAlaThrLeuPheAlaLeuValArgThrSerLeuLysIleLysThrGluGlyAsnLeuGluGlnAlaAsnGlnGluLeuArgIleValIleLysLysIleTrpLysArgMetLysGlnLysLeuLeuAspGluValIleProProProAspGluGluGluValThrValGlyLysPheTyrAlaThrPheLeuIleGlnAspTyrPheArgLysPheArgArgArgLysGluLysGlyLeuLeuGlyAsnAspAlaAlaProSerThrSerSerAlaLeuGlnAlaGlyLeuArgSerLeuGlnAspLeuGlyProGluMetArgGlnAlaLeuThrCysAspThrGluGluGluGluGluGluGlyGlnGluGlyValGluGluGluAspGluLysAspLeuGluThrAsnLysAlaThrMetValSerGlnProSerAlaArgArgGlySerGlyIleSerValSerLeuProValGlyAspArgLeuProAspSerLeuSerPheGlyProSerAspAspAspArgGlyThrProThrSerSerGlnProSerValProGlnAlaGlySerAsnThrHisArgArgGlySerGlyAlaLeuIlePheThrIleProGluGluGlyAsnSerGlnProLysGlyThrLysGlyGlnAsnLysGlnAspGluAspGluGluValProAspArgLeuSerTyrLeuAspGluGlnAlaGlyThrProProCysSerValLeuLeuProProHisArgAlaGlnArgTyrMetAspGlyHisLeuValProArgArgArgLeuLeuProProThrProAlaGlyArgLysProSerPheThrIleGlnCysLeuGlnArgGlnGlySerCysGluAspLeuProIleProGlyThrTyrHisArgGlyArgAsnSerGlyProAsnArgAlaGlnGlySerTrpAlaThrProProGlnArgGlyArgLeuLeuTyrAlaProLeuLeuLeuValGluGluGlyAlaAlaGlyGluGlyTyrLeuGlyArgSerSerGlyProLeuArgThrPheThrCysLeuHisValProGlyThrHisSerAspProSerHisGlyLysArgGlySerAlaAspSerLeuValGluAlaValLeuIleSerGluGlyLeuGlyLeuPheAlaArgAspProArgPheValAlaLeuAlaLysGlnGluIleAlaAspAlaCysArgLeuThrLeuAspGluMetAspAsnAlaAlaSerAspLeuLeuAlaGlnGlyThrSerSerLeuTyrSerAspGluGluSerIleLeuSerArgPheAspGluGluAspLeuGlyAspGluMetAlaCysValHisAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746533",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000323022.10:c.4051C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001256789.3:c.4051C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000321618.6:p.Arg1351Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001243718.1:p.Arg1351Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4113,
          "referenceAllele": "C",
          "start": 4112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001393",
      "geneNCBI_id": 778,
      "geneSymbol": "CACNA1F",
      "hgvs": [
        "ENST00000323022.9:c.4051C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000321618.5:p.Arg1351Ter",
        "hgvsWellDefined": "ENSP00000321618.5:p.Arg1351_Leu1966delinsAsnAsnAsnPheGlnThrPheProGlnAlaValLeuLeuLeuPheArgCysAlaThrGlyGluAlaTrpGlnGluIleMetLeuAlaSerLeuProGlyAsnArgCysAspProGluSerAspPheGlyProGlyGluGluPheThrCysGlySerAsnPheAlaIleAlaTyrPheIleSerPhePheMetLeuCysAlaPheLeuIleIleAsnLeuPheValAlaValIleMetAspAsnPheAspTyrLeuThrArgAspTrpSerIleLeuGlyProHisHisLeuAspGluPheLysArgIleTrpSerGluTyrAspProGlyAlaLysGlyArgIleLysHisLeuAspValValAlaLeuLeuArgArgIleGlnProProLeuGlyPheGlyLysLeuCysProHisArgValAlaCysLysArgLeuValAlaMetAsnMetProLeuAsnSerAspGlyThrValThrPheAsnAlaThrLeuPheAlaLeuValArgThrSerLeuLysIleLysThrGluGlyAsnLeuGluGlnAlaAsnGlnGluLeuArgIleValIleLysLysIleTrpLysArgMetLysGlnLysLeuLeuAspGluValIleProProProAspGluGluGluValThrValGlyLysPheTyrAlaThrPheLeuIleGlnAspTyrPheArgLysPheArgArgArgLysGluLysGlyLeuLeuGlyAsnAspAlaAlaProSerThrSerSerAlaLeuGlnAlaGlyLeuArgSerLeuGlnAspLeuGlyProGluMetArgGlnAlaLeuThrCysAspThrGluGluGluGluGluGluGlyGlnGluGlyValGluGluGluAspGluLysAspLeuGluThrAsnLysAlaThrMetValSerGlnProSerAlaArgArgGlySerGlyIleSerValSerLeuProValGlyAspArgLeuProAspSerLeuSerPheGlyProSerAspAspAspArgGlyThrProThrSerSerGlnProSerValProGlnAlaGlySerAsnThrHisArgArgGlySerGlyAlaLeuIlePheThrIleProGluGluGlyAsnSerGlnProLysGlyThrLysGlyGlnAsnLysGlnAspGluAspGluGluValProAspArgLeuSerTyrLeuAspGluGlnAlaGlyThrProProCysSerValLeuLeuProProHisArgAlaGlnArgTyrMetAspGlyHisLeuValProArgArgArgLeuLeuProProThrProAlaGlyArgLysProSerPheThrIleGlnCysLeuGlnArgGlnGlySerCysGluAspLeuProIleProGlyThrTyrHisArgGlyArgAsnSerGlyProAsnArgAlaGlnGlySerTrpAlaThrProProGlnArgGlyArgLeuLeuTyrAlaProLeuLeuLeuValGluGluGlyAlaAlaGlyGluGlyTyrLeuGlyArgSerSerGlyProLeuArgThrPheThrCysLeuHisValProGlyThrHisSerAspProSerHisGlyLysArgGlySerAlaAspSerLeuValGluAlaValLeuIleSerGluGlyLeuGlyLeuPheAlaArgAspProArgPheValAlaLeuAlaLysGlnGluIleAlaAspAlaCysArgLeuThrLeuAspGluMetAspAsnAlaAlaSerAspLeuLeuAlaGlnGlyThrSerSerLeuTyrSerAspGluGluSerIleLeuSerArgPheAspGluGluAspLeuGlyAspGluMetAlaCysValHisAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258158"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3889,
          "referenceAllele": "C",
          "start": 3888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001393",
      "geneNCBI_id": 778,
      "geneSymbol": "CACNA1F",
      "hgvs": [
        "ENST00000376251.5:c.3889C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365427.1:p.Arg1297Ter",
        "hgvsWellDefined": "ENSP00000365427.1:p.Arg1297_Leu1912delinsAsnAsnAsnPheGlnThrPheProGlnAlaValLeuLeuLeuPheArgCysAlaThrGlyGluAlaTrpGlnGluIleMetLeuAlaSerLeuProGlyAsnArgCysAspProGluSerAspPheGlyProGlyGluGluPheThrCysGlySerAsnPheAlaIleAlaTyrPheIleSerPhePheMetLeuCysAlaPheLeuIleIleAsnLeuPheValAlaValIleMetAspAsnPheAspTyrLeuThrArgAspTrpSerIleLeuGlyProHisHisLeuAspGluPheLysArgIleTrpSerGluTyrAspProGlyAlaLysGlyArgIleLysHisLeuAspValValAlaLeuLeuArgArgIleGlnProProLeuGlyPheGlyLysLeuCysProHisArgValAlaCysLysArgLeuValAlaMetAsnMetProLeuAsnSerAspGlyThrValThrPheAsnAlaThrLeuPheAlaLeuValArgThrSerLeuLysIleLysThrGluGlyAsnLeuGluGlnAlaAsnGlnGluLeuArgIleValIleLysLysIleTrpLysArgMetLysGlnLysLeuLeuAspGluValIleProProProAspGluGluGluValThrValGlyLysPheTyrAlaThrPheLeuIleGlnAspTyrPheArgLysPheArgArgArgLysGluLysGlyLeuLeuGlyAsnAspAlaAlaProSerThrSerSerAlaLeuGlnAlaGlyLeuArgSerLeuGlnAspLeuGlyProGluMetArgGlnAlaLeuThrCysAspThrGluGluGluGluGluGluGlyGlnGluGlyValGluGluGluAspGluLysAspLeuGluThrAsnLysAlaThrMetValSerGlnProSerAlaArgArgGlySerGlyIleSerValSerLeuProValGlyAspArgLeuProAspSerLeuSerPheGlyProSerAspAspAspArgGlyThrProThrSerSerGlnProSerValProGlnAlaGlySerAsnThrHisArgArgGlySerGlyAlaLeuIlePheThrIleProGluGluGlyAsnSerGlnProLysGlyThrLysGlyGlnAsnLysGlnAspGluAspGluGluValProAspArgLeuSerTyrLeuAspGluGlnAlaGlyThrProProCysSerValLeuLeuProProHisArgAlaGlnArgTyrMetAspGlyHisLeuValProArgArgArgLeuLeuProProThrProAlaGlyArgLysProSerPheThrIleGlnCysLeuGlnArgGlnGlySerCysGluAspLeuProIleProGlyThrTyrHisArgGlyArgAsnSerGlyProAsnArgAlaGlnGlySerTrpAlaThrProProGlnArgGlyArgLeuLeuTyrAlaProLeuLeuLeuValGluGluGlyAlaAlaGlyGluGlyTyrLeuGlyArgSerSerGlyProLeuArgThrPheThrCysLeuHisValProGlyThrHisSerAspProSerHisGlyLysArgGlySerAlaAspSerLeuValGluAlaValLeuIleSerGluGlyLeuGlyLeuPheAlaArgAspProArgPheValAlaLeuAlaLysGlnGluIleAlaAspAlaCysArgLeuThrLeuAspGluMetAspAsnAlaAlaSerAspLeuLeuAlaGlnGlyThrSerSerLeuTyrSerAspGluGluSerIleLeuSerArgPheAspGluGluAspLeuGlyAspGluMetAlaCysValHisAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271075"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4146,
          "referenceAllele": "C",
          "start": 4145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001393",
      "geneNCBI_id": 778,
      "geneSymbol": "CACNA1F",
      "hgvs": [
        "ENST00000376265.2:c.4084C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365441.2:p.Arg1362Ter",
        "hgvsWellDefined": "ENSP00000365441.2:p.Arg1362_Leu1977delinsAsnAsnAsnPheGlnThrPheProGlnAlaValLeuLeuLeuPheArgCysAlaThrGlyGluAlaTrpGlnGluIleMetLeuAlaSerLeuProGlyAsnArgCysAspProGluSerAspPheGlyProGlyGluGluPheThrCysGlySerAsnPheAlaIleAlaTyrPheIleSerPhePheMetLeuCysAlaPheLeuIleIleAsnLeuPheValAlaValIleMetAspAsnPheAspTyrLeuThrArgAspTrpSerIleLeuGlyProHisHisLeuAspGluPheLysArgIleTrpSerGluTyrAspProGlyAlaLysGlyArgIleLysHisLeuAspValValAlaLeuLeuArgArgIleGlnProProLeuGlyPheGlyLysLeuCysProHisArgValAlaCysLysArgLeuValAlaMetAsnMetProLeuAsnSerAspGlyThrValThrPheAsnAlaThrLeuPheAlaLeuValArgThrSerLeuLysIleLysThrGluGlyAsnLeuGluGlnAlaAsnGlnGluLeuArgIleValIleLysLysIleTrpLysArgMetLysGlnLysLeuLeuAspGluValIleProProProAspGluGluGluValThrValGlyLysPheTyrAlaThrPheLeuIleGlnAspTyrPheArgLysPheArgArgArgLysGluLysGlyLeuLeuGlyAsnAspAlaAlaProSerThrSerSerAlaLeuGlnAlaGlyLeuArgSerLeuGlnAspLeuGlyProGluMetArgGlnAlaLeuThrCysAspThrGluGluGluGluGluGluGlyGlnGluGlyValGluGluGluAspGluLysAspLeuGluThrAsnLysAlaThrMetValSerGlnProSerAlaArgArgGlySerGlyIleSerValSerLeuProValGlyAspArgLeuProAspSerLeuSerPheGlyProSerAspAspAspArgGlyThrProThrSerSerGlnProSerValProGlnAlaGlySerAsnThrHisArgArgGlySerGlyAlaLeuIlePheThrIleProGluGluGlyAsnSerGlnProLysGlyThrLysGlyGlnAsnLysGlnAspGluAspGluGluValProAspArgLeuSerTyrLeuAspGluGlnAlaGlyThrProProCysSerValLeuLeuProProHisArgAlaGlnArgTyrMetAspGlyHisLeuValProArgArgArgLeuLeuProProThrProAlaGlyArgLysProSerPheThrIleGlnCysLeuGlnArgGlnGlySerCysGluAspLeuProIleProGlyThrTyrHisArgGlyArgAsnSerGlyProAsnArgAlaGlnGlySerTrpAlaThrProProGlnArgGlyArgLeuLeuTyrAlaProLeuLeuLeuValGluGluGlyAlaAlaGlyGluGlyTyrLeuGlyArgSerSerGlyProLeuArgThrPheThrCysLeuHisValProGlyThrHisSerAspProSerHisGlyLysArgGlySerAlaAspSerLeuValGluAlaValLeuIleSerGluGlyLeuGlyLeuPheAlaArgAspProArgPheValAlaLeuAlaLysGlnGluIleAlaAspAlaCysArgLeuThrLeuAspGluMetAspAsnAlaAlaSerAspLeuLeuAlaGlnGlyThrSerSerLeuTyrSerAspGluGluSerIleLeuSerArgPheAspGluGluAspLeuGlyAspGluMetAlaCysValHisAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271083"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826404537",
      "coordinates": [
        {
          "allele": "T",
          "end": 4113,
          "referenceAllele": "C",
          "start": 4112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001393",
      "geneNCBI_id": 778,
      "geneSymbol": "CACNA1F",
      "hgvs": [
        "NM_001256789.2:c.4051C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243718.1:p.Arg1351Ter",
        "hgvsWellDefined": "NP_001243718.1:p.Arg1351_Leu1966delinsAsnAsnAsnPheGlnThrPheProGlnAlaValLeuLeuLeuPheArgCysAlaThrGlyGluAlaTrpGlnGluIleMetLeuAlaSerLeuProGlyAsnArgCysAspProGluSerAspPheGlyProGlyGluGluPheThrCysGlySerAsnPheAlaIleAlaTyrPheIleSerPhePheMetLeuCysAlaPheLeuIleIleAsnLeuPheValAlaValIleMetAspAsnPheAspTyrLeuThrArgAspTrpSerIleLeuGlyProHisHisLeuAspGluPheLysArgIleTrpSerGluTyrAspProGlyAlaLysGlyArgIleLysHisLeuAspValValAlaLeuLeuArgArgIleGlnProProLeuGlyPheGlyLysLeuCysProHisArgValAlaCysLysArgLeuValAlaMetAsnMetProLeuAsnSerAspGlyThrValThrPheAsnAlaThrLeuPheAlaLeuValArgThrSerLeuLysIleLysThrGluGlyAsnLeuGluGlnAlaAsnGlnGluLeuArgIleValIleLysLysIleTrpLysArgMetLysGlnLysLeuLeuAspGluValIleProProProAspGluGluGluValThrValGlyLysPheTyrAlaThrPheLeuIleGlnAspTyrPheArgLysPheArgArgArgLysGluLysGlyLeuLeuGlyAsnAspAlaAlaProSerThrSerSerAlaLeuGlnAlaGlyLeuArgSerLeuGlnAspLeuGlyProGluMetArgGlnAlaLeuThrCysAspThrGluGluGluGluGluGluGlyGlnGluGlyValGluGluGluAspGluLysAspLeuGluThrAsnLysAlaThrMetValSerGlnProSerAlaArgArgGlySerGlyIleSerValSerLeuProValGlyAspArgLeuProAspSerLeuSerPheGlyProSerAspAspAspArgGlyThrProThrSerSerGlnProSerValProGlnAlaGlySerAsnThrHisArgArgGlySerGlyAlaLeuIlePheThrIleProGluGluGlyAsnSerGlnProLysGlyThrLysGlyGlnAsnLysGlnAspGluAspGluGluValProAspArgLeuSerTyrLeuAspGluGlnAlaGlyThrProProCysSerValLeuLeuProProHisArgAlaGlnArgTyrMetAspGlyHisLeuValProArgArgArgLeuLeuProProThrProAlaGlyArgLysProSerPheThrIleGlnCysLeuGlnArgGlnGlySerCysGluAspLeuProIleProGlyThrTyrHisArgGlyArgAsnSerGlyProAsnArgAlaGlnGlySerTrpAlaThrProProGlnArgGlyArgLeuLeuTyrAlaProLeuLeuLeuValGluGluGlyAlaAlaGlyGluGlyTyrLeuGlyArgSerSerGlyProLeuArgThrPheThrCysLeuHisValProGlyThrHisSerAspProSerHisGlyLysArgGlySerAlaAspSerLeuValGluAlaValLeuIleSerGluGlyLeuGlyLeuPheAlaArgAspProArgPheValAlaLeuAlaLysGlnGluIleAlaAspAlaCysArgLeuThrLeuAspGluMetAspAsnAlaAlaSerAspLeuLeuAlaGlnGlyThrSerSerLeuTyrSerAspGluGluSerIleLeuSerArgPheAspGluGluAspLeuGlyAspGluMetAlaCysValHisAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019447"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826405321",
      "coordinates": [
        {
          "allele": "T",
          "end": 3951,
          "referenceAllele": "C",
          "start": 3950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001393",
      "geneNCBI_id": 778,
      "geneSymbol": "CACNA1F",
      "hgvs": [
        "NM_001256790.2:c.3889C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243719.1:p.Arg1297Ter",
        "hgvsWellDefined": "NP_001243719.1:p.Arg1297_Leu1912delinsAsnAsnAsnPheGlnThrPheProGlnAlaValLeuLeuLeuPheArgCysAlaThrGlyGluAlaTrpGlnGluIleMetLeuAlaSerLeuProGlyAsnArgCysAspProGluSerAspPheGlyProGlyGluGluPheThrCysGlySerAsnPheAlaIleAlaTyrPheIleSerPhePheMetLeuCysAlaPheLeuIleIleAsnLeuPheValAlaValIleMetAspAsnPheAspTyrLeuThrArgAspTrpSerIleLeuGlyProHisHisLeuAspGluPheLysArgIleTrpSerGluTyrAspProGlyAlaLysGlyArgIleLysHisLeuAspValValAlaLeuLeuArgArgIleGlnProProLeuGlyPheGlyLysLeuCysProHisArgValAlaCysLysArgLeuValAlaMetAsnMetProLeuAsnSerAspGlyThrValThrPheAsnAlaThrLeuPheAlaLeuValArgThrSerLeuLysIleLysThrGluGlyAsnLeuGluGlnAlaAsnGlnGluLeuArgIleValIleLysLysIleTrpLysArgMetLysGlnLysLeuLeuAspGluValIleProProProAspGluGluGluValThrValGlyLysPheTyrAlaThrPheLeuIleGlnAspTyrPheArgLysPheArgArgArgLysGluLysGlyLeuLeuGlyAsnAspAlaAlaProSerThrSerSerAlaLeuGlnAlaGlyLeuArgSerLeuGlnAspLeuGlyProGluMetArgGlnAlaLeuThrCysAspThrGluGluGluGluGluGluGlyGlnGluGlyValGluGluGluAspGluLysAspLeuGluThrAsnLysAlaThrMetValSerGlnProSerAlaArgArgGlySerGlyIleSerValSerLeuProValGlyAspArgLeuProAspSerLeuSerPheGlyProSerAspAspAspArgGlyThrProThrSerSerGlnProSerValProGlnAlaGlySerAsnThrHisArgArgGlySerGlyAlaLeuIlePheThrIleProGluGluGlyAsnSerGlnProLysGlyThrLysGlyGlnAsnLysGlnAspGluAspGluGluValProAspArgLeuSerTyrLeuAspGluGlnAlaGlyThrProProCysSerValLeuLeuProProHisArgAlaGlnArgTyrMetAspGlyHisLeuValProArgArgArgLeuLeuProProThrProAlaGlyArgLysProSerPheThrIleGlnCysLeuGlnArgGlnGlySerCysGluAspLeuProIleProGlyThrTyrHisArgGlyArgAsnSerGlyProAsnArgAlaGlnGlySerTrpAlaThrProProGlnArgGlyArgLeuLeuTyrAlaProLeuLeuLeuValGluGluGlyAlaAlaGlyGluGlyTyrLeuGlyArgSerSerGlyProLeuArgThrPheThrCysLeuHisValProGlyThrHisSerAspProSerHisGlyLysArgGlySerAlaAspSerLeuValGluAlaValLeuIleSerGluGlyLeuGlyLeuPheAlaArgAspProArgPheValAlaLeuAlaLysGlnGluIleAlaAspAlaCysArgLeuThrLeuAspGluMetAspAsnAlaAlaSerAspLeuLeuAlaGlnGlyThrSerSerLeuTyrSerAspGluGluSerIleLeuSerArgPheAspGluGluAspLeuGlyAspGluMetAlaCysValHisAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019448"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915989871",
      "coordinates": [
        {
          "allele": "T",
          "end": 4146,
          "referenceAllele": "C",
          "start": 4145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001393",
      "geneNCBI_id": 778,
      "geneSymbol": "CACNA1F",
      "hgvs": [
        "NM_005183.3:c.4084C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005174.2:p.Arg1362Ter",
        "hgvsWellDefined": "NP_005174.2:p.Arg1362_Leu1977delinsAsnAsnAsnPheGlnThrPheProGlnAlaValLeuLeuLeuPheArgCysAlaThrGlyGluAlaTrpGlnGluIleMetLeuAlaSerLeuProGlyAsnArgCysAspProGluSerAspPheGlyProGlyGluGluPheThrCysGlySerAsnPheAlaIleAlaTyrPheIleSerPhePheMetLeuCysAlaPheLeuIleIleAsnLeuPheValAlaValIleMetAspAsnPheAspTyrLeuThrArgAspTrpSerIleLeuGlyProHisHisLeuAspGluPheLysArgIleTrpSerGluTyrAspProGlyAlaLysGlyArgIleLysHisLeuAspValValAlaLeuLeuArgArgIleGlnProProLeuGlyPheGlyLysLeuCysProHisArgValAlaCysLysArgLeuValAlaMetAsnMetProLeuAsnSerAspGlyThrValThrPheAsnAlaThrLeuPheAlaLeuValArgThrSerLeuLysIleLysThrGluGlyAsnLeuGluGlnAlaAsnGlnGluLeuArgIleValIleLysLysIleTrpLysArgMetLysGlnLysLeuLeuAspGluValIleProProProAspGluGluGluValThrValGlyLysPheTyrAlaThrPheLeuIleGlnAspTyrPheArgLysPheArgArgArgLysGluLysGlyLeuLeuGlyAsnAspAlaAlaProSerThrSerSerAlaLeuGlnAlaGlyLeuArgSerLeuGlnAspLeuGlyProGluMetArgGlnAlaLeuThrCysAspThrGluGluGluGluGluGluGlyGlnGluGlyValGluGluGluAspGluLysAspLeuGluThrAsnLysAlaThrMetValSerGlnProSerAlaArgArgGlySerGlyIleSerValSerLeuProValGlyAspArgLeuProAspSerLeuSerPheGlyProSerAspAspAspArgGlyThrProThrSerSerGlnProSerValProGlnAlaGlySerAsnThrHisArgArgGlySerGlyAlaLeuIlePheThrIleProGluGluGlyAsnSerGlnProLysGlyThrLysGlyGlnAsnLysGlnAspGluAspGluGluValProAspArgLeuSerTyrLeuAspGluGlnAlaGlyThrProProCysSerValLeuLeuProProHisArgAlaGlnArgTyrMetAspGlyHisLeuValProArgArgArgLeuLeuProProThrProAlaGlyArgLysProSerPheThrIleGlnCysLeuGlnArgGlnGlySerCysGluAspLeuProIleProGlyThrTyrHisArgGlyArgAsnSerGlyProAsnArgAlaGlnGlySerTrpAlaThrProProGlnArgGlyArgLeuLeuTyrAlaProLeuLeuLeuValGluGluGlyAlaAlaGlyGluGlyTyrLeuGlyArgSerSerGlyProLeuArgThrPheThrCysLeuHisValProGlyThrHisSerAspProSerHisGlyLysArgGlySerAlaAspSerLeuValGluAlaValLeuIleSerGluGlyLeuGlyLeuPheAlaArgAspProArgPheValAlaLeuAlaLysGlnGluIleAlaAspAlaCysArgLeuThrLeuAspGluMetAspAsnAlaAlaSerAspLeuLeuAlaGlnGlyThrSerSerLeuTyrSerAspGluGluSerIleLeuSerArgPheAspGluGluAspLeuGlyAspGluMetAlaCysValHisAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030299"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4230,
          "referenceAllele": "C",
          "start": 4229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001393",
      "geneNCBI_id": 778,
      "geneSymbol": "CACNA1F",
      "hgvs": [
        "XM_011543983.1:c.3868C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542285.1:p.Arg1290Ter",
        "hgvsWellDefined": "XP_011542285.1:p.Arg1290_Leu1905delinsAsnAsnAsnPheGlnThrPheProGlnAlaValLeuLeuLeuPheArgCysAlaThrGlyGluAlaTrpGlnGluIleMetLeuAlaSerLeuProGlyAsnArgCysAspProGluSerAspPheGlyProGlyGluGluPheThrCysGlySerAsnPheAlaIleAlaTyrPheIleSerPhePheMetLeuCysAlaPheLeuIleIleAsnLeuPheValAlaValIleMetAspAsnPheAspTyrLeuThrArgAspTrpSerIleLeuGlyProHisHisLeuAspGluPheLysArgIleTrpSerGluTyrAspProGlyAlaLysGlyArgIleLysHisLeuAspValValAlaLeuLeuArgArgIleGlnProProLeuGlyPheGlyLysLeuCysProHisArgValAlaCysLysArgLeuValAlaMetAsnMetProLeuAsnSerAspGlyThrValThrPheAsnAlaThrLeuPheAlaLeuValArgThrSerLeuLysIleLysThrGluGlyAsnLeuGluGlnAlaAsnGlnGluLeuArgIleValIleLysLysIleTrpLysArgMetLysGlnLysLeuLeuAspGluValIleProProProAspGluGluGluValThrValGlyLysPheTyrAlaThrPheLeuIleGlnAspTyrPheArgLysPheArgArgArgLysGluLysGlyLeuLeuGlyAsnAspAlaAlaProSerThrSerSerAlaLeuGlnAlaGlyLeuArgSerLeuGlnAspLeuGlyProGluMetArgGlnAlaLeuThrCysAspThrGluGluGluGluGluGluGlyGlnGluGlyValGluGluGluAspGluLysAspLeuGluThrAsnLysAlaThrMetValSerGlnProSerAlaArgArgGlySerGlyIleSerValSerLeuProValGlyAspArgLeuProAspSerLeuSerPheGlyProSerAspAspAspArgGlyThrProThrSerSerGlnProSerValProGlnAlaGlySerAsnThrHisArgArgGlySerGlyAlaLeuIlePheThrIleProGluGluGlyAsnSerGlnProLysGlyThrLysGlyGlnAsnLysGlnAspGluAspGluGluValProAspArgLeuSerTyrLeuAspGluGlnAlaGlyThrProProCysSerValLeuLeuProProHisArgAlaGlnArgTyrMetAspGlyHisLeuValProArgArgArgLeuLeuProProThrProAlaGlyArgLysProSerPheThrIleGlnCysLeuGlnArgGlnGlySerCysGluAspLeuProIleProGlyThrTyrHisArgGlyArgAsnSerGlyProAsnArgAlaGlnGlySerTrpAlaThrProProGlnArgGlyArgLeuLeuTyrAlaProLeuLeuLeuValGluGluGlyAlaAlaGlyGluGlyTyrLeuGlyArgSerSerGlyProLeuArgThrPheThrCysLeuHisValProGlyThrHisSerAspProSerHisGlyLysArgGlySerAlaAspSerLeuValGluAlaValLeuIleSerGluGlyLeuGlyLeuPheAlaArgAspProArgPheValAlaLeuAlaLysGlnGluIleAlaAspAlaCysArgLeuThrLeuAspGluMetAspAsnAlaAlaSerAspLeuLeuAlaGlnGlyThrSerSerLeuTyrSerAspGluGluSerIleLeuSerArgPheAspGluGluAspLeuGlyAspGluMetAlaCysValHisAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110896"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3963,
          "referenceAllele": "C",
          "start": 3962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001393",
      "geneNCBI_id": 778,
      "geneSymbol": "CACNA1F",
      "hgvs": [
        "XM_011543983.2:c.3868C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542285.1:p.Arg1290Ter",
        "hgvsWellDefined": "XP_011542285.1:p.Arg1290_Leu1905delinsAsnAsnAsnPheGlnThrPheProGlnAlaValLeuLeuLeuPheArgCysAlaThrGlyGluAlaTrpGlnGluIleMetLeuAlaSerLeuProGlyAsnArgCysAspProGluSerAspPheGlyProGlyGluGluPheThrCysGlySerAsnPheAlaIleAlaTyrPheIleSerPhePheMetLeuCysAlaPheLeuIleIleAsnLeuPheValAlaValIleMetAspAsnPheAspTyrLeuThrArgAspTrpSerIleLeuGlyProHisHisLeuAspGluPheLysArgIleTrpSerGluTyrAspProGlyAlaLysGlyArgIleLysHisLeuAspValValAlaLeuLeuArgArgIleGlnProProLeuGlyPheGlyLysLeuCysProHisArgValAlaCysLysArgLeuValAlaMetAsnMetProLeuAsnSerAspGlyThrValThrPheAsnAlaThrLeuPheAlaLeuValArgThrSerLeuLysIleLysThrGluGlyAsnLeuGluGlnAlaAsnGlnGluLeuArgIleValIleLysLysIleTrpLysArgMetLysGlnLysLeuLeuAspGluValIleProProProAspGluGluGluValThrValGlyLysPheTyrAlaThrPheLeuIleGlnAspTyrPheArgLysPheArgArgArgLysGluLysGlyLeuLeuGlyAsnAspAlaAlaProSerThrSerSerAlaLeuGlnAlaGlyLeuArgSerLeuGlnAspLeuGlyProGluMetArgGlnAlaLeuThrCysAspThrGluGluGluGluGluGluGlyGlnGluGlyValGluGluGluAspGluLysAspLeuGluThrAsnLysAlaThrMetValSerGlnProSerAlaArgArgGlySerGlyIleSerValSerLeuProValGlyAspArgLeuProAspSerLeuSerPheGlyProSerAspAspAspArgGlyThrProThrSerSerGlnProSerValProGlnAlaGlySerAsnThrHisArgArgGlySerGlyAlaLeuIlePheThrIleProGluGluGlyAsnSerGlnProLysGlyThrLysGlyGlnAsnLysGlnAspGluAspGluGluValProAspArgLeuSerTyrLeuAspGluGlnAlaGlyThrProProCysSerValLeuLeuProProHisArgAlaGlnArgTyrMetAspGlyHisLeuValProArgArgArgLeuLeuProProThrProAlaGlyArgLysProSerPheThrIleGlnCysLeuGlnArgGlnGlySerCysGluAspLeuProIleProGlyThrTyrHisArgGlyArgAsnSerGlyProAsnArgAlaGlnGlySerTrpAlaThrProProGlnArgGlyArgLeuLeuTyrAlaProLeuLeuLeuValGluGluGlyAlaAlaGlyGluGlyTyrLeuGlyArgSerSerGlyProLeuArgThrPheThrCysLeuHisValProGlyThrHisSerAspProSerHisGlyLysArgGlySerAlaAspSerLeuValGluAlaValLeuIleSerGluGlyLeuGlyLeuPheAlaArgAspProArgPheValAlaLeuAlaLysGlnGluIleAlaAspAlaCysArgLeuThrLeuAspGluMetAspAsnAlaAlaSerAspLeuLeuAlaGlnGlyThrSerSerLeuTyrSerAspGluGluSerIleLeuSerArgPheAspGluGluAspLeuGlyAspGluMetAlaCysValHisAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555454"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1382,
          "referenceAllele": "C",
          "start": 1381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001393",
      "geneNCBI_id": 778,
      "geneSymbol": "CACNA1F",
      "hgvs": [
        "XM_017029836.1:c.1297C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885325.1:p.Arg433Ter",
        "hgvsWellDefined": "XP_016885325.1:p.Arg433_Leu1027delinsAsnAsnAsnPheGlnThrPheProGlnAlaValLeuLeuLeuPheArgCysAlaThrGlyGluAlaTrpGlnGluIleMetLeuAlaSerLeuProGlyAsnArgCysAspProGluSerAspPheGlyProGlyGluGluPheThrCysGlySerAsnPheAlaIleAlaTyrPheIleSerPhePheMetLeuCysAlaPheLeuIleIleAsnLeuPheValAlaValIleMetAspAsnPheAspTyrLeuThrArgAspTrpSerIleLeuGlyProHisHisLeuAspGluPheLysArgIleTrpSerGluTyrAspProGlyAlaLysGlyArgIleLysHisLeuAspValValAlaLeuLeuArgArgIleGlnProProLeuGlyPheGlyLysLeuCysProHisArgValAlaCysLysArgLeuValAlaMetAsnMetProLeuAsnSerAspGlyThrValThrPheAsnAlaThrLeuPheAlaLeuValArgThrSerLeuLysIleLysThrGluGlyAsnLeuGluGlnAlaAsnGlnGluLeuArgIleValIleLysLysIleTrpLysArgMetLysGlnLysLeuLeuAspGluValIleProProProAspGluGluGluValThrValGlyLysPheTyrAlaThrPheLeuIleGlnAspTyrPheArgLysPheArgArgArgLysGluLysGlyLeuLeuGlyAsnAspAlaAlaProSerThrSerSerAlaLeuGlnAlaGlyLeuArgSerLeuGlnAspLeuGlyProGluMetArgGlnAlaLeuThrCysAspThrGluGluGluGluGluGluGlyGlnGluGlyValGluGluGluAspGluLysAspLeuGluThrAsnLysAlaThrMetValSerGlnProSerAlaArgArgGlySerGlyIleSerValSerLeuProValGlyAspArgLeuProAspSerLeuSerPheGlyProSerAspAspAspArgGlyThrProThrSerSerGlnProSerValProGlnAlaGlySerAsnThrHisArgArgGlySerGlyAlaLeuIlePheThrIleProGluGluGlyAsnSerGlnProLysGlyThrLysGlyGlnAsnLysGlnAspGluAspGluGluValProAspArgAlaGlnArgTyrMetAspGlyHisLeuValProArgArgArgLeuLeuProProThrProAlaGlyArgLysProSerPheThrIleGlnCysLeuGlnArgGlnGlySerCysGluAspLeuProIleProGlyThrTyrHisArgGlyArgAsnSerGlyProAsnArgAlaGlnGlySerTrpAlaThrProProGlnArgGlyArgLeuLeuTyrAlaProLeuLeuLeuValGluGluGlyAlaAlaGlyGluGlyTyrLeuGlyArgSerSerGlyProLeuArgThrPheThrCysLeuHisValProGlyThrHisSerAspProSerHisGlyLysArgGlySerAlaAspSerLeuValGluAlaValLeuIleSerGluGlyLeuGlyLeuPheAlaArgAspProArgPheValAlaLeuAlaLysGlnGluIleAlaAspAlaCysArgLeuThrLeuAspGluMetAspAsnAlaAlaSerAspLeuLeuAlaGlnGlyThrSerSerLeuTyrSerAspGluGluSerIleLeuSerArgPheAspGluGluAspLeuGlyAspGluMetAlaCysValHisAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579326"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826404537",
      "coordinates": [
        {
          "allele": "T",
          "end": 4082,
          "referenceAllele": "C",
          "start": 4081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001393",
      "geneNCBI_id": 778,
      "geneSymbol": "CACNA1F",
      "hgvs": [
        "NM_001256789.3:c.4051C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243718.1:p.Arg1351Ter",
        "hgvsWellDefined": "NP_001243718.1:p.Arg1351_Leu1966delinsAsnAsnAsnPheGlnThrPheProGlnAlaValLeuLeuLeuPheArgCysAlaThrGlyGluAlaTrpGlnGluIleMetLeuAlaSerLeuProGlyAsnArgCysAspProGluSerAspPheGlyProGlyGluGluPheThrCysGlySerAsnPheAlaIleAlaTyrPheIleSerPhePheMetLeuCysAlaPheLeuIleIleAsnLeuPheValAlaValIleMetAspAsnPheAspTyrLeuThrArgAspTrpSerIleLeuGlyProHisHisLeuAspGluPheLysArgIleTrpSerGluTyrAspProGlyAlaLysGlyArgIleLysHisLeuAspValValAlaLeuLeuArgArgIleGlnProProLeuGlyPheGlyLysLeuCysProHisArgValAlaCysLysArgLeuValAlaMetAsnMetProLeuAsnSerAspGlyThrValThrPheAsnAlaThrLeuPheAlaLeuValArgThrSerLeuLysIleLysThrGluGlyAsnLeuGluGlnAlaAsnGlnGluLeuArgIleValIleLysLysIleTrpLysArgMetLysGlnLysLeuLeuAspGluValIleProProProAspGluGluGluValThrValGlyLysPheTyrAlaThrPheLeuIleGlnAspTyrPheArgLysPheArgArgArgLysGluLysGlyLeuLeuGlyAsnAspAlaAlaProSerThrSerSerAlaLeuGlnAlaGlyLeuArgSerLeuGlnAspLeuGlyProGluMetArgGlnAlaLeuThrCysAspThrGluGluGluGluGluGluGlyGlnGluGlyValGluGluGluAspGluLysAspLeuGluThrAsnLysAlaThrMetValSerGlnProSerAlaArgArgGlySerGlyIleSerValSerLeuProValGlyAspArgLeuProAspSerLeuSerPheGlyProSerAspAspAspArgGlyThrProThrSerSerGlnProSerValProGlnAlaGlySerAsnThrHisArgArgGlySerGlyAlaLeuIlePheThrIleProGluGluGlyAsnSerGlnProLysGlyThrLysGlyGlnAsnLysGlnAspGluAspGluGluValProAspArgLeuSerTyrLeuAspGluGlnAlaGlyThrProProCysSerValLeuLeuProProHisArgAlaGlnArgTyrMetAspGlyHisLeuValProArgArgArgLeuLeuProProThrProAlaGlyArgLysProSerPheThrIleGlnCysLeuGlnArgGlnGlySerCysGluAspLeuProIleProGlyThrTyrHisArgGlyArgAsnSerGlyProAsnArgAlaGlnGlySerTrpAlaThrProProGlnArgGlyArgLeuLeuTyrAlaProLeuLeuLeuValGluGluGlyAlaAlaGlyGluGlyTyrLeuGlyArgSerSerGlyProLeuArgThrPheThrCysLeuHisValProGlyThrHisSerAspProSerHisGlyLysArgGlySerAlaAspSerLeuValGluAlaValLeuIleSerGluGlyLeuGlyLeuPheAlaArgAspProArgPheValAlaLeuAlaLysGlnGluIleAlaAspAlaCysArgLeuThrLeuAspGluMetAspAsnAlaAlaSerAspLeuLeuAlaGlnGlyThrSerSerLeuTyrSerAspGluGluSerIleLeuSerArgPheAspGluGluAspLeuGlyAspGluMetAlaCysValHisAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680652",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000323022.10:c.4051C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001256789.3:c.4051C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000321618.6:p.Arg1351Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001243718.1:p.Arg1351Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826405321",
      "coordinates": [
        {
          "allele": "T",
          "end": 3920,
          "referenceAllele": "C",
          "start": 3919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001393",
      "geneNCBI_id": 778,
      "geneSymbol": "CACNA1F",
      "hgvs": [
        "NM_001256790.3:c.3889C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243719.1:p.Arg1297Ter",
        "hgvsWellDefined": "NP_001243719.1:p.Arg1297_Leu1912delinsAsnAsnAsnPheGlnThrPheProGlnAlaValLeuLeuLeuPheArgCysAlaThrGlyGluAlaTrpGlnGluIleMetLeuAlaSerLeuProGlyAsnArgCysAspProGluSerAspPheGlyProGlyGluGluPheThrCysGlySerAsnPheAlaIleAlaTyrPheIleSerPhePheMetLeuCysAlaPheLeuIleIleAsnLeuPheValAlaValIleMetAspAsnPheAspTyrLeuThrArgAspTrpSerIleLeuGlyProHisHisLeuAspGluPheLysArgIleTrpSerGluTyrAspProGlyAlaLysGlyArgIleLysHisLeuAspValValAlaLeuLeuArgArgIleGlnProProLeuGlyPheGlyLysLeuCysProHisArgValAlaCysLysArgLeuValAlaMetAsnMetProLeuAsnSerAspGlyThrValThrPheAsnAlaThrLeuPheAlaLeuValArgThrSerLeuLysIleLysThrGluGlyAsnLeuGluGlnAlaAsnGlnGluLeuArgIleValIleLysLysIleTrpLysArgMetLysGlnLysLeuLeuAspGluValIleProProProAspGluGluGluValThrValGlyLysPheTyrAlaThrPheLeuIleGlnAspTyrPheArgLysPheArgArgArgLysGluLysGlyLeuLeuGlyAsnAspAlaAlaProSerThrSerSerAlaLeuGlnAlaGlyLeuArgSerLeuGlnAspLeuGlyProGluMetArgGlnAlaLeuThrCysAspThrGluGluGluGluGluGluGlyGlnGluGlyValGluGluGluAspGluLysAspLeuGluThrAsnLysAlaThrMetValSerGlnProSerAlaArgArgGlySerGlyIleSerValSerLeuProValGlyAspArgLeuProAspSerLeuSerPheGlyProSerAspAspAspArgGlyThrProThrSerSerGlnProSerValProGlnAlaGlySerAsnThrHisArgArgGlySerGlyAlaLeuIlePheThrIleProGluGluGlyAsnSerGlnProLysGlyThrLysGlyGlnAsnLysGlnAspGluAspGluGluValProAspArgLeuSerTyrLeuAspGluGlnAlaGlyThrProProCysSerValLeuLeuProProHisArgAlaGlnArgTyrMetAspGlyHisLeuValProArgArgArgLeuLeuProProThrProAlaGlyArgLysProSerPheThrIleGlnCysLeuGlnArgGlnGlySerCysGluAspLeuProIleProGlyThrTyrHisArgGlyArgAsnSerGlyProAsnArgAlaGlnGlySerTrpAlaThrProProGlnArgGlyArgLeuLeuTyrAlaProLeuLeuLeuValGluGluGlyAlaAlaGlyGluGlyTyrLeuGlyArgSerSerGlyProLeuArgThrPheThrCysLeuHisValProGlyThrHisSerAspProSerHisGlyLysArgGlySerAlaAspSerLeuValGluAlaValLeuIleSerGluGlyLeuGlyLeuPheAlaArgAspProArgPheValAlaLeuAlaLysGlnGluIleAlaAspAlaCysArgLeuThrLeuAspGluMetAspAsnAlaAlaSerAspLeuLeuAlaGlnGlyThrSerSerLeuTyrSerAspGluGluSerIleLeuSerArgPheAspGluGluAspLeuGlyAspGluMetAlaCysValHisAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680653"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915989871",
      "coordinates": [
        {
          "allele": "T",
          "end": 4115,
          "referenceAllele": "C",
          "start": 4114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001393",
      "geneNCBI_id": 778,
      "geneSymbol": "CACNA1F",
      "hgvs": [
        "NM_005183.4:c.4084C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005174.2:p.Arg1362Ter",
        "hgvsWellDefined": "NP_005174.2:p.Arg1362_Leu1977delinsAsnAsnAsnPheGlnThrPheProGlnAlaValLeuLeuLeuPheArgCysAlaThrGlyGluAlaTrpGlnGluIleMetLeuAlaSerLeuProGlyAsnArgCysAspProGluSerAspPheGlyProGlyGluGluPheThrCysGlySerAsnPheAlaIleAlaTyrPheIleSerPhePheMetLeuCysAlaPheLeuIleIleAsnLeuPheValAlaValIleMetAspAsnPheAspTyrLeuThrArgAspTrpSerIleLeuGlyProHisHisLeuAspGluPheLysArgIleTrpSerGluTyrAspProGlyAlaLysGlyArgIleLysHisLeuAspValValAlaLeuLeuArgArgIleGlnProProLeuGlyPheGlyLysLeuCysProHisArgValAlaCysLysArgLeuValAlaMetAsnMetProLeuAsnSerAspGlyThrValThrPheAsnAlaThrLeuPheAlaLeuValArgThrSerLeuLysIleLysThrGluGlyAsnLeuGluGlnAlaAsnGlnGluLeuArgIleValIleLysLysIleTrpLysArgMetLysGlnLysLeuLeuAspGluValIleProProProAspGluGluGluValThrValGlyLysPheTyrAlaThrPheLeuIleGlnAspTyrPheArgLysPheArgArgArgLysGluLysGlyLeuLeuGlyAsnAspAlaAlaProSerThrSerSerAlaLeuGlnAlaGlyLeuArgSerLeuGlnAspLeuGlyProGluMetArgGlnAlaLeuThrCysAspThrGluGluGluGluGluGluGlyGlnGluGlyValGluGluGluAspGluLysAspLeuGluThrAsnLysAlaThrMetValSerGlnProSerAlaArgArgGlySerGlyIleSerValSerLeuProValGlyAspArgLeuProAspSerLeuSerPheGlyProSerAspAspAspArgGlyThrProThrSerSerGlnProSerValProGlnAlaGlySerAsnThrHisArgArgGlySerGlyAlaLeuIlePheThrIleProGluGluGlyAsnSerGlnProLysGlyThrLysGlyGlnAsnLysGlnAspGluAspGluGluValProAspArgLeuSerTyrLeuAspGluGlnAlaGlyThrProProCysSerValLeuLeuProProHisArgAlaGlnArgTyrMetAspGlyHisLeuValProArgArgArgLeuLeuProProThrProAlaGlyArgLysProSerPheThrIleGlnCysLeuGlnArgGlnGlySerCysGluAspLeuProIleProGlyThrTyrHisArgGlyArgAsnSerGlyProAsnArgAlaGlnGlySerTrpAlaThrProProGlnArgGlyArgLeuLeuTyrAlaProLeuLeuLeuValGluGluGlyAlaAlaGlyGluGlyTyrLeuGlyArgSerSerGlyProLeuArgThrPheThrCysLeuHisValProGlyThrHisSerAspProSerHisGlyLysArgGlySerAlaAspSerLeuValGluAlaValLeuIleSerGluGlyLeuGlyLeuPheAlaArgAspProArgPheValAlaLeuAlaLysGlnGluIleAlaAspAlaCysArgLeuThrLeuAspGluMetAspAsnAlaAlaSerAspLeuLeuAlaGlnGlyThrSerSerLeuTyrSerAspGluGluSerIleLeuSerArgPheAspGluGluAspLeuGlyAspGluMetAlaCysValHisAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696344"
    }
  ],
  "type": "nucleotide"
}