{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2201521585",
  "communityStandardTitle": [
    "NM_021098.3(CACNA1H):c.6898A= (p.Ile2300=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/775271588",
        "rs": 775271588
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 1220830,
          "referenceAllele": "A",
          "start": 1220829
        }
      ],
      "hgvs": [
        "NC_000016.10:g.1220830A=",
        "CM000678.2:g.1220830A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 1270830,
          "referenceAllele": "A",
          "start": 1270829
        }
      ],
      "hgvs": [
        "NC_000016.9:g.1270830A=",
        "CM000678.1:g.1270830A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 1210831,
          "referenceAllele": "A",
          "start": 1210830
        }
      ],
      "hgvs": [
        "NC_000016.8:g.1210831A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 72590,
          "referenceAllele": "A",
          "start": 72589
        }
      ],
      "hgvs": [
        "NG_012647.1:g.72590A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002502"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7224,
          "referenceAllele": "A",
          "start": 7223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "ENST00000562079.6:c.6847A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454581.2:p.Ile2283="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914292"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7211,
          "referenceAllele": "A",
          "start": 7210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "ENST00000564231.6:c.6865A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457555.2:p.Ile2289="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914298"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7261,
          "referenceAllele": "A",
          "start": 7260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "ENST00000565831.7:c.6880A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455840.1:p.Ile2294="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914303"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7296,
          "referenceAllele": "A",
          "start": 7295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "ENST00000569107.6:c.6913A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454990.2:p.Ile2305="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914318"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6504,
          "endIntronDirection": "+",
          "endIntronOffset": 777,
          "referenceAllele": "A",
          "start": 6504,
          "startIntronDirection": "+",
          "startIntronOffset": 776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "ENST00000621827.2:c.6121+777A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518766.1:n.6121+777A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914373"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7280,
          "referenceAllele": "A",
          "start": 7279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "ENST00000637236.3:c.*2817A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492650.2:n.*2817A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914391"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7002,
          "referenceAllele": "A",
          "start": 7001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "ENST00000711438.1:c.6841A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518754.1:p.Ile2281="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914799"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7272,
          "referenceAllele": "A",
          "start": 7271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "ENST00000711442.1:c.*6342A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518758.1:n.*6342A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914800"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6433,
          "referenceAllele": "A",
          "start": 6432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "ENST00000711447.1:c.6100A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518759.1:p.Ile2034="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914802"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7460,
          "referenceAllele": "A",
          "start": 7459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "ENST00000711448.1:c.*1839A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518760.1:n.*1839A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914803"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7378,
          "referenceAllele": "A",
          "start": 7377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "ENST00000711449.1:c.*1757A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518761.1:n.*1757A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914804"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7263,
          "referenceAllele": "A",
          "start": 7262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "ENST00000711450.1:c.6880A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518762.1:p.Ile2294="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914805"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7936,
          "referenceAllele": "A",
          "start": 7935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "ENST00000711451.1:c.*2477A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518763.1:n.*2477A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914806"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7396,
          "referenceAllele": "A",
          "start": 7395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "ENST00000711452.1:c.*1565A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518764.1:n.*1565A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914807"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7276,
          "referenceAllele": "A",
          "start": 7275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "ENST00000711453.1:c.*1532A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518765.1:n.*1532A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914808"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7085,
          "referenceAllele": "A",
          "start": 7084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "ENST00000711455.1:c.*377A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518768.1:n.*377A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914809"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7120,
          "referenceAllele": "A",
          "start": 7119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "ENST00000711456.1:c.*812A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518769.1:n.*812A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914810"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7174,
          "referenceAllele": "A",
          "start": 7173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "ENST00000711482.1:c.*377A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518771.1:n.*377A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914812"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7459,
          "referenceAllele": "A",
          "start": 7458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "ENST00000711483.1:c.*812A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518772.1:n.*812A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914813"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7408,
          "referenceAllele": "A",
          "start": 7407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "ENST00000711484.1:c.*812A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518773.1:n.*812A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914814"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7123,
          "referenceAllele": "A",
          "start": 7122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "ENST00000711485.1:c.*377A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518774.1:n.*377A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914815"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7281,
          "referenceAllele": "A",
          "start": 7280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "ENST00000711486.1:c.6898A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518775.1:p.Ile2300="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914816"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7248,
          "referenceAllele": "A",
          "start": 7247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "ENST00000711487.1:c.6865A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518776.1:p.Ile2289="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914817"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7443,
          "referenceAllele": "A",
          "start": 7442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "ENST00000711488.1:c.*2014A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518777.1:n.*2014A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914818"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2511,
          "referenceAllele": "A",
          "start": 2510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "ENST00000711489.1:n.2511A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS914819"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2535,
          "referenceAllele": "A",
          "start": 2534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "ENST00000711490.1:n.2535A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS914820"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7266,
          "referenceAllele": "A",
          "start": 7265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "ENST00000711493.1:c.6883A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518778.1:p.Ile2295="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914821"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7281,
          "referenceAllele": "A",
          "start": 7280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "ENST00000348261.11:c.6898A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000334198.7:p.Ile2300="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748361",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000348261.11:c.6898A="
          },
          "RefSeq": {
            "hgvs": "NM_021098.3:c.6898A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000334198.7:p.Ile2300="
          },
          "RefSeq": {
            "hgvs": "NP_066921.2:p.Ile2300="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6880,
          "referenceAllele": "A",
          "start": 6879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "ENST00000565831.6:c.6880A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455840.1:p.Ile2294="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760478"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7107,
          "referenceAllele": "A",
          "start": 7106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "ENST00000638323.1:c.6859A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492267.1:p.Ile2287="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764473"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7051,
          "referenceAllele": "A",
          "start": 7050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "ENST00000639478.1:c.*1946A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491945.1:n.*1946A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765044"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6434,
          "referenceAllele": "A",
          "start": 6433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "ENST00000640028.1:c.*4716A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491488.1:n.*4716A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765295"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7146,
          "referenceAllele": "A",
          "start": 7145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "ENST00000348261.9:c.6898A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000334198.7:p.Ile2300="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262453"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7128,
          "referenceAllele": "A",
          "start": 7127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "ENST00000358590.8:c.6880A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351401.4:p.Ile2294="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264507"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3071,
          "referenceAllele": "A",
          "start": 3070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "ENST00000562079.5:c.3071A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS376546"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3089,
          "referenceAllele": "A",
          "start": 3088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "ENST00000564231.5:c.3089A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS377955"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2529,
          "referenceAllele": "A",
          "start": 2528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "ENST00000564927.1:c.2529A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS378426"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6880,
          "referenceAllele": "A",
          "start": 6879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "ENST00000565831.5:c.6880A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455840.1:p.Ile2294="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS378996"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3137,
          "referenceAllele": "A",
          "start": 3136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "ENST00000569107.5:c.3137A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS381244"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825271810",
      "coordinates": [
        {
          "allele": "A",
          "end": 7128,
          "referenceAllele": "A",
          "start": 7127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "NM_001005407.1:c.6880A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001005407.1:p.Ile2294="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007709"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829965133",
      "coordinates": [
        {
          "allele": "A",
          "end": 7146,
          "referenceAllele": "A",
          "start": 7145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "NM_021098.2:c.6898A="
      ],
      "proteinEffect": {
        "hgvs": "NP_066921.2:p.Ile2300="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036826"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6976,
          "referenceAllele": "A",
          "start": 6975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "XM_005255652.3:c.6880A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005255709.1:p.Ile2294="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7009,
          "referenceAllele": "A",
          "start": 7008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "XM_006720963.2:c.6913A="
      ],
      "proteinEffect": {
        "hgvs": "XP_006721026.1:p.Ile2305="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073876"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6961,
          "referenceAllele": "A",
          "start": 6960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "XM_006720964.2:c.6865A="
      ],
      "proteinEffect": {
        "hgvs": "XP_006721027.1:p.Ile2289="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073877"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6943,
          "referenceAllele": "A",
          "start": 6942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "XM_006720965.2:c.6847A="
      ],
      "proteinEffect": {
        "hgvs": "XP_006721028.1:p.Ile2283="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073878"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6449,
          "referenceAllele": "A",
          "start": 6448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "XM_011522724.1:c.6367A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011521026.1:p.Ile2123="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089870"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4118,
          "referenceAllele": "A",
          "start": 4117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "XM_011522725.1:c.3964A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011521027.1:p.Ile1322="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089871"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6974,
          "referenceAllele": "A",
          "start": 6973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "XM_005255652.4:c.6880A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005255709.1:p.Ile2294="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534311"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7007,
          "referenceAllele": "A",
          "start": 7006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "XM_006720963.3:c.6913A="
      ],
      "proteinEffect": {
        "hgvs": "XP_006721026.1:p.Ile2305="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540203"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6959,
          "referenceAllele": "A",
          "start": 6958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "XM_006720964.3:c.6865A="
      ],
      "proteinEffect": {
        "hgvs": "XP_006721027.1:p.Ile2289="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540204"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6941,
          "referenceAllele": "A",
          "start": 6940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "XM_006720965.3:c.6847A="
      ],
      "proteinEffect": {
        "hgvs": "XP_006721028.1:p.Ile2283="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540205"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6456,
          "referenceAllele": "A",
          "start": 6455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "XM_011522724.2:c.6367A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011521026.1:p.Ile2123="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546724"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6968,
          "referenceAllele": "A",
          "start": 6967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "XM_017023819.1:c.6874A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016879308.1:p.Ile2292="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574501"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829965133",
      "coordinates": [
        {
          "allele": "A",
          "end": 7281,
          "referenceAllele": "A",
          "start": 7280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "NM_021098.3:c.6898A="
      ],
      "proteinEffect": {
        "hgvs": "NP_066921.2:p.Ile2300="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670208",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000348261.11:c.6898A="
          },
          "RefSeq": {
            "hgvs": "NM_021098.3:c.6898A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000334198.7:p.Ile2300="
          },
          "RefSeq": {
            "hgvs": "NP_066921.2:p.Ile2300="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825271810",
      "coordinates": [
        {
          "allele": "A",
          "end": 7263,
          "referenceAllele": "A",
          "start": 7262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "NM_001005407.2:c.6880A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001005407.1:p.Ile2294="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711154"
    }
  ],
  "type": "nucleotide"
}