{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1344405860",
  "communityStandardTitle": [
    "NM_033337.3(CAV3):c.277G= (p.Ala93=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/28936686",
        "rs": 28936686
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 8745688,
          "referenceAllele": "G",
          "start": 8745687
        }
      ],
      "hgvs": [
        "NC_000003.12:g.8745688G=",
        "CM000665.2:g.8745688G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 8787374,
          "referenceAllele": "G",
          "start": 8787373
        }
      ],
      "hgvs": [
        "NC_000003.11:g.8787374G=",
        "CM000665.1:g.8787374G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 8762374,
          "referenceAllele": "G",
          "start": 8762373
        }
      ],
      "hgvs": [
        "NC_000003.10:g.8762374G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 16879,
          "referenceAllele": "G",
          "start": 16878
        }
      ],
      "hgvs": [
        "NG_008797.2:g.16879G=",
        "LRG_329:g.16879G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001217"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 352,
          "referenceAllele": "G",
          "start": 351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001529",
      "geneNCBI_id": 859,
      "geneSymbol": "CAV3",
      "hgvs": [
        "ENST00000343849.3:c.277G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341940.2:p.Ala93="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748175",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000343849.3:c.277G="
          },
          "RefSeq": {
            "hgvs": "NM_033337.3:c.277G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000341940.2:p.Ala93="
          },
          "RefSeq": {
            "hgvs": "NP_203123.1:p.Ala93="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 354,
          "referenceAllele": "G",
          "start": 353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001529",
      "geneNCBI_id": 859,
      "geneSymbol": "CAV3",
      "hgvs": [
        "ENST00000343849.2:c.277G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341940.2:p.Ala93="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261848"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 288,
          "referenceAllele": "G",
          "start": 287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001529",
      "geneNCBI_id": 859,
      "geneSymbol": "CAV3",
      "hgvs": [
        "ENST00000397368.2:c.277G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380525.2:p.Ala93="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277764"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 155,
          "endIntronDirection": "+",
          "endIntronOffset": 11698,
          "referenceAllele": "G",
          "start": 155,
          "startIntronDirection": "+",
          "startIntronOffset": 11697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001529",
      "geneNCBI_id": 859,
      "geneSymbol": "CAV3",
      "hgvs": [
        "ENST00000472766.1:n.155+11698G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314669"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826283227",
      "coordinates": [
        {
          "allele": "G",
          "end": 354,
          "referenceAllele": "G",
          "start": 353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001529",
      "geneNCBI_id": 859,
      "geneSymbol": "CAV3",
      "hgvs": [
        "NM_001234.4:c.277G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001225.1:p.Ala93="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018050"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830105799",
      "coordinates": [
        {
          "allele": "G",
          "end": 354,
          "referenceAllele": "G",
          "start": 353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001529",
      "geneNCBI_id": 859,
      "geneSymbol": "CAV3",
      "hgvs": [
        "NM_033337.2:c.277G=",
        "LRG_329t1:c.277G="
      ],
      "proteinEffect": {
        "hgvs": "NP_203123.1:p.Ala93="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039685"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826283227",
      "coordinates": [
        {
          "allele": "G",
          "end": 352,
          "referenceAllele": "G",
          "start": 351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001529",
      "geneNCBI_id": 859,
      "geneSymbol": "CAV3",
      "hgvs": [
        "NM_001234.5:c.277G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001225.1:p.Ala93="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680044"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830105799",
      "coordinates": [
        {
          "allele": "G",
          "end": 352,
          "referenceAllele": "G",
          "start": 351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001529",
      "geneNCBI_id": 859,
      "geneSymbol": "CAV3",
      "hgvs": [
        "NM_033337.3:c.277G="
      ],
      "proteinEffect": {
        "hgvs": "NP_203123.1:p.Ala93="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699333",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000343849.3:c.277G="
          },
          "RefSeq": {
            "hgvs": "NM_033337.3:c.277G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000341940.2:p.Ala93="
          },
          "RefSeq": {
            "hgvs": "NP_203123.1:p.Ala93="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}