{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA412962256",
  "communityStandardTitle": [
    "NM_001256789.3(CACNA1F):c.3921G>A (p.Trp1307Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=800656[alleleid]",
        "alleleId": 800656,
        "preferredName": "NM_001256789.3(CACNA1F):c.3921G>A (p.Trp1307Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/812246",
        "RCV": [
          "RCV001002913",
          "RCV001270458"
        ],
        "variationId": 812246
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.49069148C>T?assembly=hg19",
        "id": "chrX:g.49069148C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.49212688C>T?assembly=hg38",
        "id": "chrX:g.49212688C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1602630650",
        "rs": 1602630650
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 49212688,
          "referenceAllele": "C",
          "start": 49212687
        }
      ],
      "hgvs": [
        "NC_000023.11:g.49212688C>T",
        "CM000685.2:g.49212688C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 49069148,
          "referenceAllele": "C",
          "start": 49069147
        }
      ],
      "hgvs": [
        "NC_000023.10:g.49069148C>T",
        "CM000685.1:g.49069148C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 48956092,
          "referenceAllele": "C",
          "start": 48956091
        }
      ],
      "hgvs": [
        "NC_000023.9:g.48956092C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25679,
          "referenceAllele": "G",
          "start": 25678
        }
      ],
      "hgvs": [
        "NG_009095.2:g.25679G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001428"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3952,
          "referenceAllele": "G",
          "start": 3951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001393",
      "geneNCBI_id": 778,
      "geneSymbol": "CACNA1F",
      "hgvs": [
        "ENST00000323022.10:c.3921G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000321618.6:p.Trp1307Ter",
        "hgvsWellDefined": "ENSP00000321618.6:p.Trp1307_Leu1966delinsThrPheIleLysSerPheGlnAlaLeuProTyrValAlaLeuLeuIleAlaMetIlePhePheIleTyrAlaValIleGlyMetGlnMetPheGlyLysValAlaLeuGlnAspGlyThrGlnIleAsnArgAsnAsnAsnPheGlnThrPheProGlnAlaValLeuLeuLeuPheArgCysAlaThrGlyGluAlaTrpGlnGluIleMetLeuAlaSerLeuProGlyAsnArgCysAspProGluSerAspPheGlyProGlyGluGluPheThrCysGlySerAsnPheAlaIleAlaTyrPheIleSerPhePheMetLeuCysAlaPheLeuIleIleAsnLeuPheValAlaValIleMetAspAsnPheAspTyrLeuThrArgAspTrpSerIleLeuGlyProHisHisLeuAspGluPheLysArgIleTrpSerGluTyrAspProGlyAlaLysGlyArgIleLysHisLeuAspValValAlaLeuLeuArgArgIleGlnProProLeuGlyPheGlyLysLeuCysProHisArgValAlaCysLysArgLeuValAlaMetAsnMetProLeuAsnSerAspGlyThrValThrPheAsnAlaThrLeuPheAlaLeuValArgThrSerLeuLysIleLysThrGluGlyAsnLeuGluGlnAlaAsnGlnGluLeuArgIleValIleLysLysIleTrpLysArgMetLysGlnLysLeuLeuAspGluValIleProProProAspGluGluGluValThrValGlyLysPheTyrAlaThrPheLeuIleGlnAspTyrPheArgLysPheArgArgArgLysGluLysGlyLeuLeuGlyAsnAspAlaAlaProSerThrSerSerAlaLeuGlnAlaGlyLeuArgSerLeuGlnAspLeuGlyProGluMetArgGlnAlaLeuThrCysAspThrGluGluGluGluGluGluGlyGlnGluGlyValGluGluGluAspGluLysAspLeuGluThrAsnLysAlaThrMetValSerGlnProSerAlaArgArgGlySerGlyIleSerValSerLeuProValGlyAspArgLeuProAspSerLeuSerPheGlyProSerAspAspAspArgGlyThrProThrSerSerGlnProSerValProGlnAlaGlySerAsnThrHisArgArgGlySerGlyAlaLeuIlePheThrIleProGluGluGlyAsnSerGlnProLysGlyThrLysGlyGlnAsnLysGlnAspGluAspGluGluValProAspArgLeuSerTyrLeuAspGluGlnAlaGlyThrProProCysSerValLeuLeuProProHisArgAlaGlnArgTyrMetAspGlyHisLeuValProArgArgArgLeuLeuProProThrProAlaGlyArgLysProSerPheThrIleGlnCysLeuGlnArgGlnGlySerCysGluAspLeuProIleProGlyThrTyrHisArgGlyArgAsnSerGlyProAsnArgAlaGlnGlySerTrpAlaThrProProGlnArgGlyArgLeuLeuTyrAlaProLeuLeuLeuValGluGluGlyAlaAlaGlyGluGlyTyrLeuGlyArgSerSerGlyProLeuArgThrPheThrCysLeuHisValProGlyThrHisSerAspProSerHisGlyLysArgGlySerAlaAspSerLeuValGluAlaValLeuIleSerGluGlyLeuGlyLeuPheAlaArgAspProArgPheValAlaLeuAlaLysGlnGluIleAlaAspAlaCysArgLeuThrLeuAspGluMetAspAsnAlaAlaSerAspLeuLeuAlaGlnGlyThrSerSerLeuTyrSerAspGluGluSerIleLeuSerArgPheAspGluGluAspLeuGlyAspGluMetAlaCysValHisAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746533",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000323022.10:c.3921G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001256789.3:c.3921G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000321618.6:p.Trp1307Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001243718.1:p.Trp1307Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3983,
          "referenceAllele": "G",
          "start": 3982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001393",
      "geneNCBI_id": 778,
      "geneSymbol": "CACNA1F",
      "hgvs": [
        "ENST00000323022.9:c.3921G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000321618.5:p.Trp1307Ter",
        "hgvsWellDefined": "ENSP00000321618.5:p.Trp1307_Leu1966delinsThrPheIleLysSerPheGlnAlaLeuProTyrValAlaLeuLeuIleAlaMetIlePhePheIleTyrAlaValIleGlyMetGlnMetPheGlyLysValAlaLeuGlnAspGlyThrGlnIleAsnArgAsnAsnAsnPheGlnThrPheProGlnAlaValLeuLeuLeuPheArgCysAlaThrGlyGluAlaTrpGlnGluIleMetLeuAlaSerLeuProGlyAsnArgCysAspProGluSerAspPheGlyProGlyGluGluPheThrCysGlySerAsnPheAlaIleAlaTyrPheIleSerPhePheMetLeuCysAlaPheLeuIleIleAsnLeuPheValAlaValIleMetAspAsnPheAspTyrLeuThrArgAspTrpSerIleLeuGlyProHisHisLeuAspGluPheLysArgIleTrpSerGluTyrAspProGlyAlaLysGlyArgIleLysHisLeuAspValValAlaLeuLeuArgArgIleGlnProProLeuGlyPheGlyLysLeuCysProHisArgValAlaCysLysArgLeuValAlaMetAsnMetProLeuAsnSerAspGlyThrValThrPheAsnAlaThrLeuPheAlaLeuValArgThrSerLeuLysIleLysThrGluGlyAsnLeuGluGlnAlaAsnGlnGluLeuArgIleValIleLysLysIleTrpLysArgMetLysGlnLysLeuLeuAspGluValIleProProProAspGluGluGluValThrValGlyLysPheTyrAlaThrPheLeuIleGlnAspTyrPheArgLysPheArgArgArgLysGluLysGlyLeuLeuGlyAsnAspAlaAlaProSerThrSerSerAlaLeuGlnAlaGlyLeuArgSerLeuGlnAspLeuGlyProGluMetArgGlnAlaLeuThrCysAspThrGluGluGluGluGluGluGlyGlnGluGlyValGluGluGluAspGluLysAspLeuGluThrAsnLysAlaThrMetValSerGlnProSerAlaArgArgGlySerGlyIleSerValSerLeuProValGlyAspArgLeuProAspSerLeuSerPheGlyProSerAspAspAspArgGlyThrProThrSerSerGlnProSerValProGlnAlaGlySerAsnThrHisArgArgGlySerGlyAlaLeuIlePheThrIleProGluGluGlyAsnSerGlnProLysGlyThrLysGlyGlnAsnLysGlnAspGluAspGluGluValProAspArgLeuSerTyrLeuAspGluGlnAlaGlyThrProProCysSerValLeuLeuProProHisArgAlaGlnArgTyrMetAspGlyHisLeuValProArgArgArgLeuLeuProProThrProAlaGlyArgLysProSerPheThrIleGlnCysLeuGlnArgGlnGlySerCysGluAspLeuProIleProGlyThrTyrHisArgGlyArgAsnSerGlyProAsnArgAlaGlnGlySerTrpAlaThrProProGlnArgGlyArgLeuLeuTyrAlaProLeuLeuLeuValGluGluGlyAlaAlaGlyGluGlyTyrLeuGlyArgSerSerGlyProLeuArgThrPheThrCysLeuHisValProGlyThrHisSerAspProSerHisGlyLysArgGlySerAlaAspSerLeuValGluAlaValLeuIleSerGluGlyLeuGlyLeuPheAlaArgAspProArgPheValAlaLeuAlaLysGlnGluIleAlaAspAlaCysArgLeuThrLeuAspGluMetAspAsnAlaAlaSerAspLeuLeuAlaGlnGlyThrSerSerLeuTyrSerAspGluGluSerIleLeuSerArgPheAspGluGluAspLeuGlyAspGluMetAlaCysValHisAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258158"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3759,
          "referenceAllele": "G",
          "start": 3758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001393",
      "geneNCBI_id": 778,
      "geneSymbol": "CACNA1F",
      "hgvs": [
        "ENST00000376251.5:c.3759G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365427.1:p.Trp1253Ter",
        "hgvsWellDefined": "ENSP00000365427.1:p.Trp1253_Leu1912delinsThrPheIleLysSerPheGlnAlaLeuProTyrValAlaLeuLeuIleAlaMetIlePhePheIleTyrAlaValIleGlyMetGlnMetPheGlyLysValAlaLeuGlnAspGlyThrGlnIleAsnArgAsnAsnAsnPheGlnThrPheProGlnAlaValLeuLeuLeuPheArgCysAlaThrGlyGluAlaTrpGlnGluIleMetLeuAlaSerLeuProGlyAsnArgCysAspProGluSerAspPheGlyProGlyGluGluPheThrCysGlySerAsnPheAlaIleAlaTyrPheIleSerPhePheMetLeuCysAlaPheLeuIleIleAsnLeuPheValAlaValIleMetAspAsnPheAspTyrLeuThrArgAspTrpSerIleLeuGlyProHisHisLeuAspGluPheLysArgIleTrpSerGluTyrAspProGlyAlaLysGlyArgIleLysHisLeuAspValValAlaLeuLeuArgArgIleGlnProProLeuGlyPheGlyLysLeuCysProHisArgValAlaCysLysArgLeuValAlaMetAsnMetProLeuAsnSerAspGlyThrValThrPheAsnAlaThrLeuPheAlaLeuValArgThrSerLeuLysIleLysThrGluGlyAsnLeuGluGlnAlaAsnGlnGluLeuArgIleValIleLysLysIleTrpLysArgMetLysGlnLysLeuLeuAspGluValIleProProProAspGluGluGluValThrValGlyLysPheTyrAlaThrPheLeuIleGlnAspTyrPheArgLysPheArgArgArgLysGluLysGlyLeuLeuGlyAsnAspAlaAlaProSerThrSerSerAlaLeuGlnAlaGlyLeuArgSerLeuGlnAspLeuGlyProGluMetArgGlnAlaLeuThrCysAspThrGluGluGluGluGluGluGlyGlnGluGlyValGluGluGluAspGluLysAspLeuGluThrAsnLysAlaThrMetValSerGlnProSerAlaArgArgGlySerGlyIleSerValSerLeuProValGlyAspArgLeuProAspSerLeuSerPheGlyProSerAspAspAspArgGlyThrProThrSerSerGlnProSerValProGlnAlaGlySerAsnThrHisArgArgGlySerGlyAlaLeuIlePheThrIleProGluGluGlyAsnSerGlnProLysGlyThrLysGlyGlnAsnLysGlnAspGluAspGluGluValProAspArgLeuSerTyrLeuAspGluGlnAlaGlyThrProProCysSerValLeuLeuProProHisArgAlaGlnArgTyrMetAspGlyHisLeuValProArgArgArgLeuLeuProProThrProAlaGlyArgLysProSerPheThrIleGlnCysLeuGlnArgGlnGlySerCysGluAspLeuProIleProGlyThrTyrHisArgGlyArgAsnSerGlyProAsnArgAlaGlnGlySerTrpAlaThrProProGlnArgGlyArgLeuLeuTyrAlaProLeuLeuLeuValGluGluGlyAlaAlaGlyGluGlyTyrLeuGlyArgSerSerGlyProLeuArgThrPheThrCysLeuHisValProGlyThrHisSerAspProSerHisGlyLysArgGlySerAlaAspSerLeuValGluAlaValLeuIleSerGluGlyLeuGlyLeuPheAlaArgAspProArgPheValAlaLeuAlaLysGlnGluIleAlaAspAlaCysArgLeuThrLeuAspGluMetAspAsnAlaAlaSerAspLeuLeuAlaGlnGlyThrSerSerLeuTyrSerAspGluGluSerIleLeuSerArgPheAspGluGluAspLeuGlyAspGluMetAlaCysValHisAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271075"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4016,
          "referenceAllele": "G",
          "start": 4015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001393",
      "geneNCBI_id": 778,
      "geneSymbol": "CACNA1F",
      "hgvs": [
        "ENST00000376265.2:c.3954G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365441.2:p.Trp1318Ter",
        "hgvsWellDefined": "ENSP00000365441.2:p.Trp1318_Leu1977delinsThrPheIleLysSerPheGlnAlaLeuProTyrValAlaLeuLeuIleAlaMetIlePhePheIleTyrAlaValIleGlyMetGlnMetPheGlyLysValAlaLeuGlnAspGlyThrGlnIleAsnArgAsnAsnAsnPheGlnThrPheProGlnAlaValLeuLeuLeuPheArgCysAlaThrGlyGluAlaTrpGlnGluIleMetLeuAlaSerLeuProGlyAsnArgCysAspProGluSerAspPheGlyProGlyGluGluPheThrCysGlySerAsnPheAlaIleAlaTyrPheIleSerPhePheMetLeuCysAlaPheLeuIleIleAsnLeuPheValAlaValIleMetAspAsnPheAspTyrLeuThrArgAspTrpSerIleLeuGlyProHisHisLeuAspGluPheLysArgIleTrpSerGluTyrAspProGlyAlaLysGlyArgIleLysHisLeuAspValValAlaLeuLeuArgArgIleGlnProProLeuGlyPheGlyLysLeuCysProHisArgValAlaCysLysArgLeuValAlaMetAsnMetProLeuAsnSerAspGlyThrValThrPheAsnAlaThrLeuPheAlaLeuValArgThrSerLeuLysIleLysThrGluGlyAsnLeuGluGlnAlaAsnGlnGluLeuArgIleValIleLysLysIleTrpLysArgMetLysGlnLysLeuLeuAspGluValIleProProProAspGluGluGluValThrValGlyLysPheTyrAlaThrPheLeuIleGlnAspTyrPheArgLysPheArgArgArgLysGluLysGlyLeuLeuGlyAsnAspAlaAlaProSerThrSerSerAlaLeuGlnAlaGlyLeuArgSerLeuGlnAspLeuGlyProGluMetArgGlnAlaLeuThrCysAspThrGluGluGluGluGluGluGlyGlnGluGlyValGluGluGluAspGluLysAspLeuGluThrAsnLysAlaThrMetValSerGlnProSerAlaArgArgGlySerGlyIleSerValSerLeuProValGlyAspArgLeuProAspSerLeuSerPheGlyProSerAspAspAspArgGlyThrProThrSerSerGlnProSerValProGlnAlaGlySerAsnThrHisArgArgGlySerGlyAlaLeuIlePheThrIleProGluGluGlyAsnSerGlnProLysGlyThrLysGlyGlnAsnLysGlnAspGluAspGluGluValProAspArgLeuSerTyrLeuAspGluGlnAlaGlyThrProProCysSerValLeuLeuProProHisArgAlaGlnArgTyrMetAspGlyHisLeuValProArgArgArgLeuLeuProProThrProAlaGlyArgLysProSerPheThrIleGlnCysLeuGlnArgGlnGlySerCysGluAspLeuProIleProGlyThrTyrHisArgGlyArgAsnSerGlyProAsnArgAlaGlnGlySerTrpAlaThrProProGlnArgGlyArgLeuLeuTyrAlaProLeuLeuLeuValGluGluGlyAlaAlaGlyGluGlyTyrLeuGlyArgSerSerGlyProLeuArgThrPheThrCysLeuHisValProGlyThrHisSerAspProSerHisGlyLysArgGlySerAlaAspSerLeuValGluAlaValLeuIleSerGluGlyLeuGlyLeuPheAlaArgAspProArgPheValAlaLeuAlaLysGlnGluIleAlaAspAlaCysArgLeuThrLeuAspGluMetAspAsnAlaAlaSerAspLeuLeuAlaGlnGlyThrSerSerLeuTyrSerAspGluGluSerIleLeuSerArgPheAspGluGluAspLeuGlyAspGluMetAlaCysValHisAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271083"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826404518",
      "coordinates": [
        {
          "allele": "A",
          "end": 3983,
          "referenceAllele": "G",
          "start": 3982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001393",
      "geneNCBI_id": 778,
      "geneSymbol": "CACNA1F",
      "hgvs": [
        "NM_001256789.2:c.3921G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243718.1:p.Trp1307Ter",
        "hgvsWellDefined": "NP_001243718.1:p.Trp1307_Leu1966delinsThrPheIleLysSerPheGlnAlaLeuProTyrValAlaLeuLeuIleAlaMetIlePhePheIleTyrAlaValIleGlyMetGlnMetPheGlyLysValAlaLeuGlnAspGlyThrGlnIleAsnArgAsnAsnAsnPheGlnThrPheProGlnAlaValLeuLeuLeuPheArgCysAlaThrGlyGluAlaTrpGlnGluIleMetLeuAlaSerLeuProGlyAsnArgCysAspProGluSerAspPheGlyProGlyGluGluPheThrCysGlySerAsnPheAlaIleAlaTyrPheIleSerPhePheMetLeuCysAlaPheLeuIleIleAsnLeuPheValAlaValIleMetAspAsnPheAspTyrLeuThrArgAspTrpSerIleLeuGlyProHisHisLeuAspGluPheLysArgIleTrpSerGluTyrAspProGlyAlaLysGlyArgIleLysHisLeuAspValValAlaLeuLeuArgArgIleGlnProProLeuGlyPheGlyLysLeuCysProHisArgValAlaCysLysArgLeuValAlaMetAsnMetProLeuAsnSerAspGlyThrValThrPheAsnAlaThrLeuPheAlaLeuValArgThrSerLeuLysIleLysThrGluGlyAsnLeuGluGlnAlaAsnGlnGluLeuArgIleValIleLysLysIleTrpLysArgMetLysGlnLysLeuLeuAspGluValIleProProProAspGluGluGluValThrValGlyLysPheTyrAlaThrPheLeuIleGlnAspTyrPheArgLysPheArgArgArgLysGluLysGlyLeuLeuGlyAsnAspAlaAlaProSerThrSerSerAlaLeuGlnAlaGlyLeuArgSerLeuGlnAspLeuGlyProGluMetArgGlnAlaLeuThrCysAspThrGluGluGluGluGluGluGlyGlnGluGlyValGluGluGluAspGluLysAspLeuGluThrAsnLysAlaThrMetValSerGlnProSerAlaArgArgGlySerGlyIleSerValSerLeuProValGlyAspArgLeuProAspSerLeuSerPheGlyProSerAspAspAspArgGlyThrProThrSerSerGlnProSerValProGlnAlaGlySerAsnThrHisArgArgGlySerGlyAlaLeuIlePheThrIleProGluGluGlyAsnSerGlnProLysGlyThrLysGlyGlnAsnLysGlnAspGluAspGluGluValProAspArgLeuSerTyrLeuAspGluGlnAlaGlyThrProProCysSerValLeuLeuProProHisArgAlaGlnArgTyrMetAspGlyHisLeuValProArgArgArgLeuLeuProProThrProAlaGlyArgLysProSerPheThrIleGlnCysLeuGlnArgGlnGlySerCysGluAspLeuProIleProGlyThrTyrHisArgGlyArgAsnSerGlyProAsnArgAlaGlnGlySerTrpAlaThrProProGlnArgGlyArgLeuLeuTyrAlaProLeuLeuLeuValGluGluGlyAlaAlaGlyGluGlyTyrLeuGlyArgSerSerGlyProLeuArgThrPheThrCysLeuHisValProGlyThrHisSerAspProSerHisGlyLysArgGlySerAlaAspSerLeuValGluAlaValLeuIleSerGluGlyLeuGlyLeuPheAlaArgAspProArgPheValAlaLeuAlaLysGlnGluIleAlaAspAlaCysArgLeuThrLeuAspGluMetAspAsnAlaAlaSerAspLeuLeuAlaGlnGlyThrSerSerLeuTyrSerAspGluGluSerIleLeuSerArgPheAspGluGluAspLeuGlyAspGluMetAlaCysValHisAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019447"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826405303",
      "coordinates": [
        {
          "allele": "A",
          "end": 3821,
          "referenceAllele": "G",
          "start": 3820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001393",
      "geneNCBI_id": 778,
      "geneSymbol": "CACNA1F",
      "hgvs": [
        "NM_001256790.2:c.3759G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243719.1:p.Trp1253Ter",
        "hgvsWellDefined": "NP_001243719.1:p.Trp1253_Leu1912delinsThrPheIleLysSerPheGlnAlaLeuProTyrValAlaLeuLeuIleAlaMetIlePhePheIleTyrAlaValIleGlyMetGlnMetPheGlyLysValAlaLeuGlnAspGlyThrGlnIleAsnArgAsnAsnAsnPheGlnThrPheProGlnAlaValLeuLeuLeuPheArgCysAlaThrGlyGluAlaTrpGlnGluIleMetLeuAlaSerLeuProGlyAsnArgCysAspProGluSerAspPheGlyProGlyGluGluPheThrCysGlySerAsnPheAlaIleAlaTyrPheIleSerPhePheMetLeuCysAlaPheLeuIleIleAsnLeuPheValAlaValIleMetAspAsnPheAspTyrLeuThrArgAspTrpSerIleLeuGlyProHisHisLeuAspGluPheLysArgIleTrpSerGluTyrAspProGlyAlaLysGlyArgIleLysHisLeuAspValValAlaLeuLeuArgArgIleGlnProProLeuGlyPheGlyLysLeuCysProHisArgValAlaCysLysArgLeuValAlaMetAsnMetProLeuAsnSerAspGlyThrValThrPheAsnAlaThrLeuPheAlaLeuValArgThrSerLeuLysIleLysThrGluGlyAsnLeuGluGlnAlaAsnGlnGluLeuArgIleValIleLysLysIleTrpLysArgMetLysGlnLysLeuLeuAspGluValIleProProProAspGluGluGluValThrValGlyLysPheTyrAlaThrPheLeuIleGlnAspTyrPheArgLysPheArgArgArgLysGluLysGlyLeuLeuGlyAsnAspAlaAlaProSerThrSerSerAlaLeuGlnAlaGlyLeuArgSerLeuGlnAspLeuGlyProGluMetArgGlnAlaLeuThrCysAspThrGluGluGluGluGluGluGlyGlnGluGlyValGluGluGluAspGluLysAspLeuGluThrAsnLysAlaThrMetValSerGlnProSerAlaArgArgGlySerGlyIleSerValSerLeuProValGlyAspArgLeuProAspSerLeuSerPheGlyProSerAspAspAspArgGlyThrProThrSerSerGlnProSerValProGlnAlaGlySerAsnThrHisArgArgGlySerGlyAlaLeuIlePheThrIleProGluGluGlyAsnSerGlnProLysGlyThrLysGlyGlnAsnLysGlnAspGluAspGluGluValProAspArgLeuSerTyrLeuAspGluGlnAlaGlyThrProProCysSerValLeuLeuProProHisArgAlaGlnArgTyrMetAspGlyHisLeuValProArgArgArgLeuLeuProProThrProAlaGlyArgLysProSerPheThrIleGlnCysLeuGlnArgGlnGlySerCysGluAspLeuProIleProGlyThrTyrHisArgGlyArgAsnSerGlyProAsnArgAlaGlnGlySerTrpAlaThrProProGlnArgGlyArgLeuLeuTyrAlaProLeuLeuLeuValGluGluGlyAlaAlaGlyGluGlyTyrLeuGlyArgSerSerGlyProLeuArgThrPheThrCysLeuHisValProGlyThrHisSerAspProSerHisGlyLysArgGlySerAlaAspSerLeuValGluAlaValLeuIleSerGluGlyLeuGlyLeuPheAlaArgAspProArgPheValAlaLeuAlaLysGlnGluIleAlaAspAlaCysArgLeuThrLeuAspGluMetAspAsnAlaAlaSerAspLeuLeuAlaGlnGlyThrSerSerLeuTyrSerAspGluGluSerIleLeuSerArgPheAspGluGluAspLeuGlyAspGluMetAlaCysValHisAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019448"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915989870",
      "coordinates": [
        {
          "allele": "A",
          "end": 4016,
          "referenceAllele": "G",
          "start": 4015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001393",
      "geneNCBI_id": 778,
      "geneSymbol": "CACNA1F",
      "hgvs": [
        "NM_005183.3:c.3954G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005174.2:p.Trp1318Ter",
        "hgvsWellDefined": "NP_005174.2:p.Trp1318_Leu1977delinsThrPheIleLysSerPheGlnAlaLeuProTyrValAlaLeuLeuIleAlaMetIlePhePheIleTyrAlaValIleGlyMetGlnMetPheGlyLysValAlaLeuGlnAspGlyThrGlnIleAsnArgAsnAsnAsnPheGlnThrPheProGlnAlaValLeuLeuLeuPheArgCysAlaThrGlyGluAlaTrpGlnGluIleMetLeuAlaSerLeuProGlyAsnArgCysAspProGluSerAspPheGlyProGlyGluGluPheThrCysGlySerAsnPheAlaIleAlaTyrPheIleSerPhePheMetLeuCysAlaPheLeuIleIleAsnLeuPheValAlaValIleMetAspAsnPheAspTyrLeuThrArgAspTrpSerIleLeuGlyProHisHisLeuAspGluPheLysArgIleTrpSerGluTyrAspProGlyAlaLysGlyArgIleLysHisLeuAspValValAlaLeuLeuArgArgIleGlnProProLeuGlyPheGlyLysLeuCysProHisArgValAlaCysLysArgLeuValAlaMetAsnMetProLeuAsnSerAspGlyThrValThrPheAsnAlaThrLeuPheAlaLeuValArgThrSerLeuLysIleLysThrGluGlyAsnLeuGluGlnAlaAsnGlnGluLeuArgIleValIleLysLysIleTrpLysArgMetLysGlnLysLeuLeuAspGluValIleProProProAspGluGluGluValThrValGlyLysPheTyrAlaThrPheLeuIleGlnAspTyrPheArgLysPheArgArgArgLysGluLysGlyLeuLeuGlyAsnAspAlaAlaProSerThrSerSerAlaLeuGlnAlaGlyLeuArgSerLeuGlnAspLeuGlyProGluMetArgGlnAlaLeuThrCysAspThrGluGluGluGluGluGluGlyGlnGluGlyValGluGluGluAspGluLysAspLeuGluThrAsnLysAlaThrMetValSerGlnProSerAlaArgArgGlySerGlyIleSerValSerLeuProValGlyAspArgLeuProAspSerLeuSerPheGlyProSerAspAspAspArgGlyThrProThrSerSerGlnProSerValProGlnAlaGlySerAsnThrHisArgArgGlySerGlyAlaLeuIlePheThrIleProGluGluGlyAsnSerGlnProLysGlyThrLysGlyGlnAsnLysGlnAspGluAspGluGluValProAspArgLeuSerTyrLeuAspGluGlnAlaGlyThrProProCysSerValLeuLeuProProHisArgAlaGlnArgTyrMetAspGlyHisLeuValProArgArgArgLeuLeuProProThrProAlaGlyArgLysProSerPheThrIleGlnCysLeuGlnArgGlnGlySerCysGluAspLeuProIleProGlyThrTyrHisArgGlyArgAsnSerGlyProAsnArgAlaGlnGlySerTrpAlaThrProProGlnArgGlyArgLeuLeuTyrAlaProLeuLeuLeuValGluGluGlyAlaAlaGlyGluGlyTyrLeuGlyArgSerSerGlyProLeuArgThrPheThrCysLeuHisValProGlyThrHisSerAspProSerHisGlyLysArgGlySerAlaAspSerLeuValGluAlaValLeuIleSerGluGlyLeuGlyLeuPheAlaArgAspProArgPheValAlaLeuAlaLysGlnGluIleAlaAspAlaCysArgLeuThrLeuAspGluMetAspAsnAlaAlaSerAspLeuLeuAlaGlnGlyThrSerSerLeuTyrSerAspGluGluSerIleLeuSerArgPheAspGluGluAspLeuGlyAspGluMetAlaCysValHisAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030299"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4100,
          "referenceAllele": "G",
          "start": 4099
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001393",
      "geneNCBI_id": 778,
      "geneSymbol": "CACNA1F",
      "hgvs": [
        "XM_011543983.1:c.3738G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542285.1:p.Trp1246Ter",
        "hgvsWellDefined": "XP_011542285.1:p.Trp1246_Leu1905delinsThrPheIleLysSerPheGlnAlaLeuProTyrValAlaLeuLeuIleAlaMetIlePhePheIleTyrAlaValIleGlyMetGlnMetPheGlyLysValAlaLeuGlnAspGlyThrGlnIleAsnArgAsnAsnAsnPheGlnThrPheProGlnAlaValLeuLeuLeuPheArgCysAlaThrGlyGluAlaTrpGlnGluIleMetLeuAlaSerLeuProGlyAsnArgCysAspProGluSerAspPheGlyProGlyGluGluPheThrCysGlySerAsnPheAlaIleAlaTyrPheIleSerPhePheMetLeuCysAlaPheLeuIleIleAsnLeuPheValAlaValIleMetAspAsnPheAspTyrLeuThrArgAspTrpSerIleLeuGlyProHisHisLeuAspGluPheLysArgIleTrpSerGluTyrAspProGlyAlaLysGlyArgIleLysHisLeuAspValValAlaLeuLeuArgArgIleGlnProProLeuGlyPheGlyLysLeuCysProHisArgValAlaCysLysArgLeuValAlaMetAsnMetProLeuAsnSerAspGlyThrValThrPheAsnAlaThrLeuPheAlaLeuValArgThrSerLeuLysIleLysThrGluGlyAsnLeuGluGlnAlaAsnGlnGluLeuArgIleValIleLysLysIleTrpLysArgMetLysGlnLysLeuLeuAspGluValIleProProProAspGluGluGluValThrValGlyLysPheTyrAlaThrPheLeuIleGlnAspTyrPheArgLysPheArgArgArgLysGluLysGlyLeuLeuGlyAsnAspAlaAlaProSerThrSerSerAlaLeuGlnAlaGlyLeuArgSerLeuGlnAspLeuGlyProGluMetArgGlnAlaLeuThrCysAspThrGluGluGluGluGluGluGlyGlnGluGlyValGluGluGluAspGluLysAspLeuGluThrAsnLysAlaThrMetValSerGlnProSerAlaArgArgGlySerGlyIleSerValSerLeuProValGlyAspArgLeuProAspSerLeuSerPheGlyProSerAspAspAspArgGlyThrProThrSerSerGlnProSerValProGlnAlaGlySerAsnThrHisArgArgGlySerGlyAlaLeuIlePheThrIleProGluGluGlyAsnSerGlnProLysGlyThrLysGlyGlnAsnLysGlnAspGluAspGluGluValProAspArgLeuSerTyrLeuAspGluGlnAlaGlyThrProProCysSerValLeuLeuProProHisArgAlaGlnArgTyrMetAspGlyHisLeuValProArgArgArgLeuLeuProProThrProAlaGlyArgLysProSerPheThrIleGlnCysLeuGlnArgGlnGlySerCysGluAspLeuProIleProGlyThrTyrHisArgGlyArgAsnSerGlyProAsnArgAlaGlnGlySerTrpAlaThrProProGlnArgGlyArgLeuLeuTyrAlaProLeuLeuLeuValGluGluGlyAlaAlaGlyGluGlyTyrLeuGlyArgSerSerGlyProLeuArgThrPheThrCysLeuHisValProGlyThrHisSerAspProSerHisGlyLysArgGlySerAlaAspSerLeuValGluAlaValLeuIleSerGluGlyLeuGlyLeuPheAlaArgAspProArgPheValAlaLeuAlaLysGlnGluIleAlaAspAlaCysArgLeuThrLeuAspGluMetAspAsnAlaAlaSerAspLeuLeuAlaGlnGlyThrSerSerLeuTyrSerAspGluGluSerIleLeuSerArgPheAspGluGluAspLeuGlyAspGluMetAlaCysValHisAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110896"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3833,
          "referenceAllele": "G",
          "start": 3832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001393",
      "geneNCBI_id": 778,
      "geneSymbol": "CACNA1F",
      "hgvs": [
        "XM_011543983.2:c.3738G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542285.1:p.Trp1246Ter",
        "hgvsWellDefined": "XP_011542285.1:p.Trp1246_Leu1905delinsThrPheIleLysSerPheGlnAlaLeuProTyrValAlaLeuLeuIleAlaMetIlePhePheIleTyrAlaValIleGlyMetGlnMetPheGlyLysValAlaLeuGlnAspGlyThrGlnIleAsnArgAsnAsnAsnPheGlnThrPheProGlnAlaValLeuLeuLeuPheArgCysAlaThrGlyGluAlaTrpGlnGluIleMetLeuAlaSerLeuProGlyAsnArgCysAspProGluSerAspPheGlyProGlyGluGluPheThrCysGlySerAsnPheAlaIleAlaTyrPheIleSerPhePheMetLeuCysAlaPheLeuIleIleAsnLeuPheValAlaValIleMetAspAsnPheAspTyrLeuThrArgAspTrpSerIleLeuGlyProHisHisLeuAspGluPheLysArgIleTrpSerGluTyrAspProGlyAlaLysGlyArgIleLysHisLeuAspValValAlaLeuLeuArgArgIleGlnProProLeuGlyPheGlyLysLeuCysProHisArgValAlaCysLysArgLeuValAlaMetAsnMetProLeuAsnSerAspGlyThrValThrPheAsnAlaThrLeuPheAlaLeuValArgThrSerLeuLysIleLysThrGluGlyAsnLeuGluGlnAlaAsnGlnGluLeuArgIleValIleLysLysIleTrpLysArgMetLysGlnLysLeuLeuAspGluValIleProProProAspGluGluGluValThrValGlyLysPheTyrAlaThrPheLeuIleGlnAspTyrPheArgLysPheArgArgArgLysGluLysGlyLeuLeuGlyAsnAspAlaAlaProSerThrSerSerAlaLeuGlnAlaGlyLeuArgSerLeuGlnAspLeuGlyProGluMetArgGlnAlaLeuThrCysAspThrGluGluGluGluGluGluGlyGlnGluGlyValGluGluGluAspGluLysAspLeuGluThrAsnLysAlaThrMetValSerGlnProSerAlaArgArgGlySerGlyIleSerValSerLeuProValGlyAspArgLeuProAspSerLeuSerPheGlyProSerAspAspAspArgGlyThrProThrSerSerGlnProSerValProGlnAlaGlySerAsnThrHisArgArgGlySerGlyAlaLeuIlePheThrIleProGluGluGlyAsnSerGlnProLysGlyThrLysGlyGlnAsnLysGlnAspGluAspGluGluValProAspArgLeuSerTyrLeuAspGluGlnAlaGlyThrProProCysSerValLeuLeuProProHisArgAlaGlnArgTyrMetAspGlyHisLeuValProArgArgArgLeuLeuProProThrProAlaGlyArgLysProSerPheThrIleGlnCysLeuGlnArgGlnGlySerCysGluAspLeuProIleProGlyThrTyrHisArgGlyArgAsnSerGlyProAsnArgAlaGlnGlySerTrpAlaThrProProGlnArgGlyArgLeuLeuTyrAlaProLeuLeuLeuValGluGluGlyAlaAlaGlyGluGlyTyrLeuGlyArgSerSerGlyProLeuArgThrPheThrCysLeuHisValProGlyThrHisSerAspProSerHisGlyLysArgGlySerAlaAspSerLeuValGluAlaValLeuIleSerGluGlyLeuGlyLeuPheAlaArgAspProArgPheValAlaLeuAlaLysGlnGluIleAlaAspAlaCysArgLeuThrLeuAspGluMetAspAsnAlaAlaSerAspLeuLeuAlaGlnGlyThrSerSerLeuTyrSerAspGluGluSerIleLeuSerArgPheAspGluGluAspLeuGlyAspGluMetAlaCysValHisAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555454"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1252,
          "referenceAllele": "G",
          "start": 1251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001393",
      "geneNCBI_id": 778,
      "geneSymbol": "CACNA1F",
      "hgvs": [
        "XM_017029836.1:c.1167G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885325.1:p.Trp389Ter",
        "hgvsWellDefined": "XP_016885325.1:p.Trp389_Leu1027delinsThrPheIleLysSerPheGlnAlaLeuProTyrValAlaLeuLeuIleAlaMetIlePhePheIleTyrAlaValIleGlyMetGlnMetPheGlyLysValAlaLeuGlnAspGlyThrGlnIleAsnArgAsnAsnAsnPheGlnThrPheProGlnAlaValLeuLeuLeuPheArgCysAlaThrGlyGluAlaTrpGlnGluIleMetLeuAlaSerLeuProGlyAsnArgCysAspProGluSerAspPheGlyProGlyGluGluPheThrCysGlySerAsnPheAlaIleAlaTyrPheIleSerPhePheMetLeuCysAlaPheLeuIleIleAsnLeuPheValAlaValIleMetAspAsnPheAspTyrLeuThrArgAspTrpSerIleLeuGlyProHisHisLeuAspGluPheLysArgIleTrpSerGluTyrAspProGlyAlaLysGlyArgIleLysHisLeuAspValValAlaLeuLeuArgArgIleGlnProProLeuGlyPheGlyLysLeuCysProHisArgValAlaCysLysArgLeuValAlaMetAsnMetProLeuAsnSerAspGlyThrValThrPheAsnAlaThrLeuPheAlaLeuValArgThrSerLeuLysIleLysThrGluGlyAsnLeuGluGlnAlaAsnGlnGluLeuArgIleValIleLysLysIleTrpLysArgMetLysGlnLysLeuLeuAspGluValIleProProProAspGluGluGluValThrValGlyLysPheTyrAlaThrPheLeuIleGlnAspTyrPheArgLysPheArgArgArgLysGluLysGlyLeuLeuGlyAsnAspAlaAlaProSerThrSerSerAlaLeuGlnAlaGlyLeuArgSerLeuGlnAspLeuGlyProGluMetArgGlnAlaLeuThrCysAspThrGluGluGluGluGluGluGlyGlnGluGlyValGluGluGluAspGluLysAspLeuGluThrAsnLysAlaThrMetValSerGlnProSerAlaArgArgGlySerGlyIleSerValSerLeuProValGlyAspArgLeuProAspSerLeuSerPheGlyProSerAspAspAspArgGlyThrProThrSerSerGlnProSerValProGlnAlaGlySerAsnThrHisArgArgGlySerGlyAlaLeuIlePheThrIleProGluGluGlyAsnSerGlnProLysGlyThrLysGlyGlnAsnLysGlnAspGluAspGluGluValProAspArgAlaGlnArgTyrMetAspGlyHisLeuValProArgArgArgLeuLeuProProThrProAlaGlyArgLysProSerPheThrIleGlnCysLeuGlnArgGlnGlySerCysGluAspLeuProIleProGlyThrTyrHisArgGlyArgAsnSerGlyProAsnArgAlaGlnGlySerTrpAlaThrProProGlnArgGlyArgLeuLeuTyrAlaProLeuLeuLeuValGluGluGlyAlaAlaGlyGluGlyTyrLeuGlyArgSerSerGlyProLeuArgThrPheThrCysLeuHisValProGlyThrHisSerAspProSerHisGlyLysArgGlySerAlaAspSerLeuValGluAlaValLeuIleSerGluGlyLeuGlyLeuPheAlaArgAspProArgPheValAlaLeuAlaLysGlnGluIleAlaAspAlaCysArgLeuThrLeuAspGluMetAspAsnAlaAlaSerAspLeuLeuAlaGlnGlyThrSerSerLeuTyrSerAspGluGluSerIleLeuSerArgPheAspGluGluAspLeuGlyAspGluMetAlaCysValHisAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579326"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826404518",
      "coordinates": [
        {
          "allele": "A",
          "end": 3952,
          "referenceAllele": "G",
          "start": 3951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001393",
      "geneNCBI_id": 778,
      "geneSymbol": "CACNA1F",
      "hgvs": [
        "NM_001256789.3:c.3921G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243718.1:p.Trp1307Ter",
        "hgvsWellDefined": "NP_001243718.1:p.Trp1307_Leu1966delinsThrPheIleLysSerPheGlnAlaLeuProTyrValAlaLeuLeuIleAlaMetIlePhePheIleTyrAlaValIleGlyMetGlnMetPheGlyLysValAlaLeuGlnAspGlyThrGlnIleAsnArgAsnAsnAsnPheGlnThrPheProGlnAlaValLeuLeuLeuPheArgCysAlaThrGlyGluAlaTrpGlnGluIleMetLeuAlaSerLeuProGlyAsnArgCysAspProGluSerAspPheGlyProGlyGluGluPheThrCysGlySerAsnPheAlaIleAlaTyrPheIleSerPhePheMetLeuCysAlaPheLeuIleIleAsnLeuPheValAlaValIleMetAspAsnPheAspTyrLeuThrArgAspTrpSerIleLeuGlyProHisHisLeuAspGluPheLysArgIleTrpSerGluTyrAspProGlyAlaLysGlyArgIleLysHisLeuAspValValAlaLeuLeuArgArgIleGlnProProLeuGlyPheGlyLysLeuCysProHisArgValAlaCysLysArgLeuValAlaMetAsnMetProLeuAsnSerAspGlyThrValThrPheAsnAlaThrLeuPheAlaLeuValArgThrSerLeuLysIleLysThrGluGlyAsnLeuGluGlnAlaAsnGlnGluLeuArgIleValIleLysLysIleTrpLysArgMetLysGlnLysLeuLeuAspGluValIleProProProAspGluGluGluValThrValGlyLysPheTyrAlaThrPheLeuIleGlnAspTyrPheArgLysPheArgArgArgLysGluLysGlyLeuLeuGlyAsnAspAlaAlaProSerThrSerSerAlaLeuGlnAlaGlyLeuArgSerLeuGlnAspLeuGlyProGluMetArgGlnAlaLeuThrCysAspThrGluGluGluGluGluGluGlyGlnGluGlyValGluGluGluAspGluLysAspLeuGluThrAsnLysAlaThrMetValSerGlnProSerAlaArgArgGlySerGlyIleSerValSerLeuProValGlyAspArgLeuProAspSerLeuSerPheGlyProSerAspAspAspArgGlyThrProThrSerSerGlnProSerValProGlnAlaGlySerAsnThrHisArgArgGlySerGlyAlaLeuIlePheThrIleProGluGluGlyAsnSerGlnProLysGlyThrLysGlyGlnAsnLysGlnAspGluAspGluGluValProAspArgLeuSerTyrLeuAspGluGlnAlaGlyThrProProCysSerValLeuLeuProProHisArgAlaGlnArgTyrMetAspGlyHisLeuValProArgArgArgLeuLeuProProThrProAlaGlyArgLysProSerPheThrIleGlnCysLeuGlnArgGlnGlySerCysGluAspLeuProIleProGlyThrTyrHisArgGlyArgAsnSerGlyProAsnArgAlaGlnGlySerTrpAlaThrProProGlnArgGlyArgLeuLeuTyrAlaProLeuLeuLeuValGluGluGlyAlaAlaGlyGluGlyTyrLeuGlyArgSerSerGlyProLeuArgThrPheThrCysLeuHisValProGlyThrHisSerAspProSerHisGlyLysArgGlySerAlaAspSerLeuValGluAlaValLeuIleSerGluGlyLeuGlyLeuPheAlaArgAspProArgPheValAlaLeuAlaLysGlnGluIleAlaAspAlaCysArgLeuThrLeuAspGluMetAspAsnAlaAlaSerAspLeuLeuAlaGlnGlyThrSerSerLeuTyrSerAspGluGluSerIleLeuSerArgPheAspGluGluAspLeuGlyAspGluMetAlaCysValHisAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680652",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000323022.10:c.3921G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001256789.3:c.3921G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000321618.6:p.Trp1307Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001243718.1:p.Trp1307Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826405303",
      "coordinates": [
        {
          "allele": "A",
          "end": 3790,
          "referenceAllele": "G",
          "start": 3789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001393",
      "geneNCBI_id": 778,
      "geneSymbol": "CACNA1F",
      "hgvs": [
        "NM_001256790.3:c.3759G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243719.1:p.Trp1253Ter",
        "hgvsWellDefined": "NP_001243719.1:p.Trp1253_Leu1912delinsThrPheIleLysSerPheGlnAlaLeuProTyrValAlaLeuLeuIleAlaMetIlePhePheIleTyrAlaValIleGlyMetGlnMetPheGlyLysValAlaLeuGlnAspGlyThrGlnIleAsnArgAsnAsnAsnPheGlnThrPheProGlnAlaValLeuLeuLeuPheArgCysAlaThrGlyGluAlaTrpGlnGluIleMetLeuAlaSerLeuProGlyAsnArgCysAspProGluSerAspPheGlyProGlyGluGluPheThrCysGlySerAsnPheAlaIleAlaTyrPheIleSerPhePheMetLeuCysAlaPheLeuIleIleAsnLeuPheValAlaValIleMetAspAsnPheAspTyrLeuThrArgAspTrpSerIleLeuGlyProHisHisLeuAspGluPheLysArgIleTrpSerGluTyrAspProGlyAlaLysGlyArgIleLysHisLeuAspValValAlaLeuLeuArgArgIleGlnProProLeuGlyPheGlyLysLeuCysProHisArgValAlaCysLysArgLeuValAlaMetAsnMetProLeuAsnSerAspGlyThrValThrPheAsnAlaThrLeuPheAlaLeuValArgThrSerLeuLysIleLysThrGluGlyAsnLeuGluGlnAlaAsnGlnGluLeuArgIleValIleLysLysIleTrpLysArgMetLysGlnLysLeuLeuAspGluValIleProProProAspGluGluGluValThrValGlyLysPheTyrAlaThrPheLeuIleGlnAspTyrPheArgLysPheArgArgArgLysGluLysGlyLeuLeuGlyAsnAspAlaAlaProSerThrSerSerAlaLeuGlnAlaGlyLeuArgSerLeuGlnAspLeuGlyProGluMetArgGlnAlaLeuThrCysAspThrGluGluGluGluGluGluGlyGlnGluGlyValGluGluGluAspGluLysAspLeuGluThrAsnLysAlaThrMetValSerGlnProSerAlaArgArgGlySerGlyIleSerValSerLeuProValGlyAspArgLeuProAspSerLeuSerPheGlyProSerAspAspAspArgGlyThrProThrSerSerGlnProSerValProGlnAlaGlySerAsnThrHisArgArgGlySerGlyAlaLeuIlePheThrIleProGluGluGlyAsnSerGlnProLysGlyThrLysGlyGlnAsnLysGlnAspGluAspGluGluValProAspArgLeuSerTyrLeuAspGluGlnAlaGlyThrProProCysSerValLeuLeuProProHisArgAlaGlnArgTyrMetAspGlyHisLeuValProArgArgArgLeuLeuProProThrProAlaGlyArgLysProSerPheThrIleGlnCysLeuGlnArgGlnGlySerCysGluAspLeuProIleProGlyThrTyrHisArgGlyArgAsnSerGlyProAsnArgAlaGlnGlySerTrpAlaThrProProGlnArgGlyArgLeuLeuTyrAlaProLeuLeuLeuValGluGluGlyAlaAlaGlyGluGlyTyrLeuGlyArgSerSerGlyProLeuArgThrPheThrCysLeuHisValProGlyThrHisSerAspProSerHisGlyLysArgGlySerAlaAspSerLeuValGluAlaValLeuIleSerGluGlyLeuGlyLeuPheAlaArgAspProArgPheValAlaLeuAlaLysGlnGluIleAlaAspAlaCysArgLeuThrLeuAspGluMetAspAsnAlaAlaSerAspLeuLeuAlaGlnGlyThrSerSerLeuTyrSerAspGluGluSerIleLeuSerArgPheAspGluGluAspLeuGlyAspGluMetAlaCysValHisAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680653"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915989870",
      "coordinates": [
        {
          "allele": "A",
          "end": 3985,
          "referenceAllele": "G",
          "start": 3984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001393",
      "geneNCBI_id": 778,
      "geneSymbol": "CACNA1F",
      "hgvs": [
        "NM_005183.4:c.3954G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005174.2:p.Trp1318Ter",
        "hgvsWellDefined": "NP_005174.2:p.Trp1318_Leu1977delinsThrPheIleLysSerPheGlnAlaLeuProTyrValAlaLeuLeuIleAlaMetIlePhePheIleTyrAlaValIleGlyMetGlnMetPheGlyLysValAlaLeuGlnAspGlyThrGlnIleAsnArgAsnAsnAsnPheGlnThrPheProGlnAlaValLeuLeuLeuPheArgCysAlaThrGlyGluAlaTrpGlnGluIleMetLeuAlaSerLeuProGlyAsnArgCysAspProGluSerAspPheGlyProGlyGluGluPheThrCysGlySerAsnPheAlaIleAlaTyrPheIleSerPhePheMetLeuCysAlaPheLeuIleIleAsnLeuPheValAlaValIleMetAspAsnPheAspTyrLeuThrArgAspTrpSerIleLeuGlyProHisHisLeuAspGluPheLysArgIleTrpSerGluTyrAspProGlyAlaLysGlyArgIleLysHisLeuAspValValAlaLeuLeuArgArgIleGlnProProLeuGlyPheGlyLysLeuCysProHisArgValAlaCysLysArgLeuValAlaMetAsnMetProLeuAsnSerAspGlyThrValThrPheAsnAlaThrLeuPheAlaLeuValArgThrSerLeuLysIleLysThrGluGlyAsnLeuGluGlnAlaAsnGlnGluLeuArgIleValIleLysLysIleTrpLysArgMetLysGlnLysLeuLeuAspGluValIleProProProAspGluGluGluValThrValGlyLysPheTyrAlaThrPheLeuIleGlnAspTyrPheArgLysPheArgArgArgLysGluLysGlyLeuLeuGlyAsnAspAlaAlaProSerThrSerSerAlaLeuGlnAlaGlyLeuArgSerLeuGlnAspLeuGlyProGluMetArgGlnAlaLeuThrCysAspThrGluGluGluGluGluGluGlyGlnGluGlyValGluGluGluAspGluLysAspLeuGluThrAsnLysAlaThrMetValSerGlnProSerAlaArgArgGlySerGlyIleSerValSerLeuProValGlyAspArgLeuProAspSerLeuSerPheGlyProSerAspAspAspArgGlyThrProThrSerSerGlnProSerValProGlnAlaGlySerAsnThrHisArgArgGlySerGlyAlaLeuIlePheThrIleProGluGluGlyAsnSerGlnProLysGlyThrLysGlyGlnAsnLysGlnAspGluAspGluGluValProAspArgLeuSerTyrLeuAspGluGlnAlaGlyThrProProCysSerValLeuLeuProProHisArgAlaGlnArgTyrMetAspGlyHisLeuValProArgArgArgLeuLeuProProThrProAlaGlyArgLysProSerPheThrIleGlnCysLeuGlnArgGlnGlySerCysGluAspLeuProIleProGlyThrTyrHisArgGlyArgAsnSerGlyProAsnArgAlaGlnGlySerTrpAlaThrProProGlnArgGlyArgLeuLeuTyrAlaProLeuLeuLeuValGluGluGlyAlaAlaGlyGluGlyTyrLeuGlyArgSerSerGlyProLeuArgThrPheThrCysLeuHisValProGlyThrHisSerAspProSerHisGlyLysArgGlySerAlaAspSerLeuValGluAlaValLeuIleSerGluGlyLeuGlyLeuPheAlaArgAspProArgPheValAlaLeuAlaLysGlnGluIleAlaAspAlaCysArgLeuThrLeuAspGluMetAspAsnAlaAlaSerAspLeuLeuAlaGlnGlyThrSerSerLeuTyrSerAspGluGluSerIleLeuSerArgPheAspGluGluAspLeuGlyAspGluMetAlaCysValHisAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696344"
    }
  ],
  "type": "nucleotide"
}