{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16609535",
  "communityStandardTitle": [
    "NM_021098.3(CACNA1H):c.2051C>A (p.Pro684His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=389164[alleleid]",
        "alleleId": 389164,
        "preferredName": "NM_021098.3(CACNA1H):c.2051C>A (p.Pro684His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/402204",
        "RCV": [
          "RCV000454200",
          "RCV003237846"
        ],
        "variationId": 402204
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.1254058C>A?assembly=hg19",
        "id": "chr16:g.1254058C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.1204058C>A?assembly=hg38",
        "id": "chr16:g.1204058C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/767983680",
        "rs": 767983680
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-1204058-C-A?dataset=gnomad_r3",
        "id": "16-1204058-C-A",
        "variant": "16:1204058 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-1204058-C-A?dataset=gnomad_r4",
        "id": "16-1204058-C-A",
        "variant": "16:1204058 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 1204058,
          "referenceAllele": "C",
          "start": 1204057
        }
      ],
      "hgvs": [
        "NC_000016.10:g.1204058C>A",
        "CM000678.2:g.1204058C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 1254058,
          "referenceAllele": "C",
          "start": 1254057
        }
      ],
      "hgvs": [
        "NC_000016.9:g.1254058C>A",
        "CM000678.1:g.1254058C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 1194059,
          "referenceAllele": "C",
          "start": 1194058
        }
      ],
      "hgvs": [
        "NC_000016.8:g.1194059C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 55818,
          "referenceAllele": "C",
          "start": 55817
        }
      ],
      "hgvs": [
        "NG_012647.1:g.55818C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002502"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2428,
          "referenceAllele": "C",
          "start": 2427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "ENST00000562079.6:c.2051C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454581.2:p.Pro684His",
        "hgvsWellDefined": "ENSP00000454581.2:p.Pro684His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914292"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2397,
          "referenceAllele": "C",
          "start": 2396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "ENST00000564231.6:c.2051C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457555.2:p.Pro684His",
        "hgvsWellDefined": "ENSP00000457555.2:p.Pro684His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914298"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2432,
          "referenceAllele": "C",
          "start": 2431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "ENST00000565831.7:c.2051C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455840.1:p.Pro684His",
        "hgvsWellDefined": "ENSP00000455840.1:p.Pro684His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914303"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2434,
          "referenceAllele": "C",
          "start": 2433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "ENST00000569107.6:c.2051C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454990.2:p.Pro684His",
        "hgvsWellDefined": "ENSP00000454990.2:p.Pro684His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914318"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2434,
          "referenceAllele": "C",
          "start": 2433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "ENST00000621827.2:c.2051C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518766.1:p.Pro684His",
        "hgvsWellDefined": "ENSP00000518766.1:p.Pro684His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914373"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2434,
          "referenceAllele": "C",
          "start": 2433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "ENST00000637236.3:c.2051C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492650.2:p.Pro684His",
        "hgvsWellDefined": "ENSP00000492650.2:p.Pro684His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914391"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2173,
          "referenceAllele": "C",
          "start": 2172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "ENST00000711438.1:c.2012C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518754.1:p.Pro671His",
        "hgvsWellDefined": "ENSP00000518754.1:p.Pro671His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914799"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2428,
          "referenceAllele": "C",
          "start": 2427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "ENST00000711442.1:c.*1498C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518758.1:n.*1498C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914800"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1616,
          "referenceAllele": "C",
          "start": 1615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "ENST00000711447.1:c.1283C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518759.1:p.Pro428His",
        "hgvsWellDefined": "ENSP00000518759.1:p.Pro428His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914802"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2434,
          "referenceAllele": "C",
          "start": 2433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "ENST00000711448.1:c.2051C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518760.1:p.Pro684His",
        "hgvsWellDefined": "ENSP00000518760.1:p.Pro684His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914803"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2434,
          "referenceAllele": "C",
          "start": 2433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "ENST00000711449.1:c.2051C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518761.1:p.Pro684His",
        "hgvsWellDefined": "ENSP00000518761.1:p.Pro684His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914804"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2434,
          "referenceAllele": "C",
          "start": 2433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "ENST00000711450.1:c.2051C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518762.1:p.Pro684His",
        "hgvsWellDefined": "ENSP00000518762.1:p.Pro684His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914805"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2434,
          "referenceAllele": "C",
          "start": 2433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "ENST00000711451.1:c.2051C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518763.1:p.Pro684His",
        "hgvsWellDefined": "ENSP00000518763.1:p.Pro684His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914806"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2434,
          "referenceAllele": "C",
          "start": 2433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "ENST00000711452.1:c.2051C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518764.1:p.Pro684His",
        "hgvsWellDefined": "ENSP00000518764.1:p.Pro684His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914807"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2434,
          "referenceAllele": "C",
          "start": 2433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "ENST00000711453.1:c.2051C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518765.1:p.Pro684His",
        "hgvsWellDefined": "ENSP00000518765.1:p.Pro684His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914808"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2423,
          "referenceAllele": "C",
          "start": 2422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "ENST00000711455.1:c.2051C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518768.1:p.Pro684His",
        "hgvsWellDefined": "ENSP00000518768.1:p.Pro684His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914809"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2434,
          "referenceAllele": "C",
          "start": 2433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "ENST00000711456.1:c.2051C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518769.1:p.Pro684His",
        "hgvsWellDefined": "ENSP00000518769.1:p.Pro684His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914810"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2434,
          "referenceAllele": "C",
          "start": 2433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "ENST00000711482.1:c.2051C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518771.1:p.Pro684His",
        "hgvsWellDefined": "ENSP00000518771.1:p.Pro684His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914812"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2434,
          "referenceAllele": "C",
          "start": 2433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "ENST00000711483.1:c.2051C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518772.1:p.Pro684His",
        "hgvsWellDefined": "ENSP00000518772.1:p.Pro684His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914813"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2434,
          "referenceAllele": "C",
          "start": 2433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "ENST00000711484.1:c.2051C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518773.1:p.Pro684His",
        "hgvsWellDefined": "ENSP00000518773.1:p.Pro684His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914814"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2434,
          "referenceAllele": "C",
          "start": 2433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "ENST00000711485.1:c.2051C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518774.1:p.Pro684His",
        "hgvsWellDefined": "ENSP00000518774.1:p.Pro684His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914815"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2434,
          "referenceAllele": "C",
          "start": 2433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "ENST00000711486.1:c.2051C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518775.1:p.Pro684His",
        "hgvsWellDefined": "ENSP00000518775.1:p.Pro684His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914816"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2434,
          "referenceAllele": "C",
          "start": 2433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "ENST00000711487.1:c.2051C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518776.1:p.Pro684His",
        "hgvsWellDefined": "ENSP00000518776.1:p.Pro684His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914817"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2422,
          "referenceAllele": "C",
          "start": 2421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "ENST00000711488.1:c.2051C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518777.1:p.Pro684His",
        "hgvsWellDefined": "ENSP00000518777.1:p.Pro684His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914818"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2434,
          "referenceAllele": "C",
          "start": 2433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "ENST00000711493.1:c.2051C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518778.1:p.Pro684His",
        "hgvsWellDefined": "ENSP00000518778.1:p.Pro684His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914821"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2434,
          "referenceAllele": "C",
          "start": 2433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "ENST00000348261.11:c.2051C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000334198.7:p.Pro684His",
        "hgvsWellDefined": "ENSP00000334198.7:p.Pro684His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748361",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000348261.11:c.2051C>A"
          },
          "RefSeq": {
            "hgvs": "NM_021098.3:c.2051C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000334198.7:p.Pro684His"
          },
          "RefSeq": {
            "hgvs": "NP_066921.2:p.Pro684His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2051,
          "referenceAllele": "C",
          "start": 2050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "ENST00000565831.6:c.2051C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455840.1:p.Pro684His",
        "hgvsWellDefined": "ENSP00000455840.1:p.Pro684His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760478"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2260,
          "referenceAllele": "C",
          "start": 2259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "ENST00000638323.1:c.2012C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492267.1:p.Pro671His",
        "hgvsWellDefined": "ENSP00000492267.1:p.Pro671His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764473"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2299,
          "referenceAllele": "C",
          "start": 2298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "ENST00000639478.1:c.2051C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491945.1:p.Pro684His",
        "hgvsWellDefined": "ENSP00000491945.1:p.Pro684His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765044"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1682,
          "referenceAllele": "C",
          "start": 1681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "ENST00000640028.1:c.1434C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491488.1:p.Pro478="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765295"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2299,
          "referenceAllele": "C",
          "start": 2298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "ENST00000348261.9:c.2051C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000334198.7:p.Pro684His",
        "hgvsWellDefined": "ENSP00000334198.7:p.Pro684His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262453"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2299,
          "referenceAllele": "C",
          "start": 2298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "ENST00000358590.8:c.2051C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351401.4:p.Pro684His",
        "hgvsWellDefined": "ENSP00000351401.4:p.Pro684His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264507"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2051,
          "referenceAllele": "C",
          "start": 2050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "ENST00000565831.5:c.2051C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455840.1:p.Pro684His",
        "hgvsWellDefined": "ENSP00000455840.1:p.Pro684His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS378996"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825270041",
      "coordinates": [
        {
          "allele": "A",
          "end": 2299,
          "referenceAllele": "C",
          "start": 2298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "NM_001005407.1:c.2051C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005407.1:p.Pro684His",
        "hgvsWellDefined": "NP_001005407.1:p.Pro684His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007709"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645453099",
      "coordinates": [
        {
          "allele": "A",
          "end": 2299,
          "referenceAllele": "C",
          "start": 2298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "NM_021098.2:c.2051C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_066921.2:p.Pro684His",
        "hgvsWellDefined": "NP_066921.2:p.Pro684His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036826"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2147,
          "referenceAllele": "C",
          "start": 2146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "XM_005255652.3:c.2051C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255709.1:p.Pro684His",
        "hgvsWellDefined": "XP_005255709.1:p.Pro684His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2147,
          "referenceAllele": "C",
          "start": 2146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "XM_006720963.2:c.2051C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721026.1:p.Pro684His",
        "hgvsWellDefined": "XP_006721026.1:p.Pro684His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073876"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2147,
          "referenceAllele": "C",
          "start": 2146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "XM_006720964.2:c.2051C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721027.1:p.Pro684His",
        "hgvsWellDefined": "XP_006721027.1:p.Pro684His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073877"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2147,
          "referenceAllele": "C",
          "start": 2146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "XM_006720965.2:c.2051C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721028.1:p.Pro684His",
        "hgvsWellDefined": "XP_006721028.1:p.Pro684His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073878"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2150,
          "referenceAllele": "C",
          "start": 2149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "XM_006720967.2:c.2051C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721030.1:p.Pro684His",
        "hgvsWellDefined": "XP_006721030.1:p.Pro684His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073879"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2150,
          "referenceAllele": "C",
          "start": 2149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "XM_006720968.2:c.2051C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721031.1:p.Pro684His",
        "hgvsWellDefined": "XP_006721031.1:p.Pro684His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073880"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2150,
          "referenceAllele": "C",
          "start": 2149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "XM_006720969.2:c.2051C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721032.1:p.Pro684His",
        "hgvsWellDefined": "XP_006721032.1:p.Pro684His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073881"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1587,
          "referenceAllele": "C",
          "start": 1586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "XM_011522724.1:c.1505C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521026.1:p.Pro502His",
        "hgvsWellDefined": "XP_011521026.1:p.Pro502His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089870"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2160,
          "referenceAllele": "C",
          "start": 2159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "XM_011522726.1:c.2051C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521028.1:p.Pro684His",
        "hgvsWellDefined": "XP_011521028.1:p.Pro684His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089872"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2160,
          "referenceAllele": "C",
          "start": 2159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "XM_011522727.1:c.2051C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521029.1:p.Pro684His",
        "hgvsWellDefined": "XP_011521029.1:p.Pro684His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089873"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2153,
          "referenceAllele": "C",
          "start": 2152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "XR_932960.1:n.2153C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128762"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2145,
          "referenceAllele": "C",
          "start": 2144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "XM_005255652.4:c.2051C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255709.1:p.Pro684His",
        "hgvsWellDefined": "XP_005255709.1:p.Pro684His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534311"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2145,
          "referenceAllele": "C",
          "start": 2144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "XM_006720963.3:c.2051C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721026.1:p.Pro684His",
        "hgvsWellDefined": "XP_006721026.1:p.Pro684His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540203"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2145,
          "referenceAllele": "C",
          "start": 2144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "XM_006720964.3:c.2051C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721027.1:p.Pro684His",
        "hgvsWellDefined": "XP_006721027.1:p.Pro684His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540204"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2145,
          "referenceAllele": "C",
          "start": 2144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "XM_006720965.3:c.2051C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721028.1:p.Pro684His",
        "hgvsWellDefined": "XP_006721028.1:p.Pro684His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540205"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2146,
          "referenceAllele": "C",
          "start": 2145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "XM_006720967.3:c.2051C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721030.1:p.Pro684His",
        "hgvsWellDefined": "XP_006721030.1:p.Pro684His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540206"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2146,
          "referenceAllele": "C",
          "start": 2145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "XM_006720968.3:c.2051C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721031.1:p.Pro684His",
        "hgvsWellDefined": "XP_006721031.1:p.Pro684His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540207"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1594,
          "referenceAllele": "C",
          "start": 1593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "XM_011522724.2:c.1505C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521026.1:p.Pro502His",
        "hgvsWellDefined": "XP_011521026.1:p.Pro502His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546724"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2152,
          "referenceAllele": "C",
          "start": 2151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "XM_011522727.3:c.2051C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521029.1:p.Pro684His",
        "hgvsWellDefined": "XP_011521029.1:p.Pro684His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546725"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2106,
          "referenceAllele": "C",
          "start": 2105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "XM_017023819.1:c.2012C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879308.1:p.Pro671His",
        "hgvsWellDefined": "XP_016879308.1:p.Pro671His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574501"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2145,
          "referenceAllele": "C",
          "start": 2144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "XM_017023820.1:c.2051C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879309.1:p.Pro684His",
        "hgvsWellDefined": "XP_016879309.1:p.Pro684His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574502"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2145,
          "referenceAllele": "C",
          "start": 2144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "XM_017023821.1:c.2051C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879310.1:p.Pro684His",
        "hgvsWellDefined": "XP_016879310.1:p.Pro684His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574503"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2149,
          "referenceAllele": "C",
          "start": 2148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "XR_002957850.1:n.2149C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603978"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645453099",
      "coordinates": [
        {
          "allele": "A",
          "end": 2434,
          "referenceAllele": "C",
          "start": 2433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "NM_021098.3:c.2051C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_066921.2:p.Pro684His",
        "hgvsWellDefined": "NP_066921.2:p.Pro684His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670208",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000348261.11:c.2051C>A"
          },
          "RefSeq": {
            "hgvs": "NM_021098.3:c.2051C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000334198.7:p.Pro684His"
          },
          "RefSeq": {
            "hgvs": "NP_066921.2:p.Pro684His"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825270041",
      "coordinates": [
        {
          "allele": "A",
          "end": 2434,
          "referenceAllele": "C",
          "start": 2433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "NM_001005407.2:c.2051C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005407.1:p.Pro684His",
        "hgvsWellDefined": "NP_001005407.1:p.Pro684His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711154"
    }
  ],
  "type": "nucleotide"
}