{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA024656",
  "communityStandardTitle": [
    "NM_000540.3(RYR1):c.6847A>C (p.Asn2283His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=76876[alleleid]",
        "alleleId": 76876,
        "preferredName": "NM_000540.3(RYR1):c.6847A>C (p.Asn2283His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/65968",
        "RCV": [
          "RCV000056215",
          "RCV000119671",
          "RCV001580412"
        ],
        "variationId": 65968
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.38987550A>C?assembly=hg19",
        "id": "chr19:g.38987550A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.38496910A>C?assembly=hg38",
        "id": "chr19:g.38496910A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/118192121",
        "rs": 118192121
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 38496910,
          "referenceAllele": "A",
          "start": 38496909
        }
      ],
      "hgvs": [
        "NC_000019.10:g.38496910A>C",
        "CM000681.2:g.38496910A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 38987550,
          "referenceAllele": "A",
          "start": 38987549
        }
      ],
      "hgvs": [
        "NC_000019.9:g.38987550A>C",
        "CM000681.1:g.38987550A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 43679390,
          "referenceAllele": "A",
          "start": 43679389
        }
      ],
      "hgvs": [
        "NC_000019.8:g.43679390A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 68211,
          "referenceAllele": "A",
          "start": 68210
        }
      ],
      "hgvs": [
        "NG_008866.1:g.68211A>C",
        "LRG_766:g.68211A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001261"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6847,
          "referenceAllele": "A",
          "start": 6846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000599547.6:c.6847A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000471601.2:p.Asn2283His",
        "hgvsWellDefined": "ENSP00000471601.2:p.Asn2283His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826332"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6986,
          "referenceAllele": "A",
          "start": 6985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000359596.8:c.6847A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352608.2:p.Asn2283His",
        "hgvsWellDefined": "ENSP00000352608.2:p.Asn2283His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749219",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000359596.8:c.6847A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000540.3:c.6847A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000352608.2:p.Asn2283His"
          },
          "RefSeq": {
            "hgvs": "NP_000531.2:p.Asn2283His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6978,
          "referenceAllele": "A",
          "start": 6977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000355481.8:c.6847A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347667.3:p.Asn2283His",
        "hgvsWellDefined": "ENSP00000347667.3:p.Asn2283His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247177"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6847,
          "referenceAllele": "A",
          "start": 6846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000359596.7:c.6847A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352608.2:p.Asn2283His",
        "hgvsWellDefined": "ENSP00000352608.2:p.Asn2283His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246733"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6951,
          "referenceAllele": "A",
          "start": 6950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000360985.7:c.6844A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354254.4:p.Asn2282His",
        "hgvsWellDefined": "ENSP00000354254.4:p.Asn2282His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247225"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 299,
          "referenceAllele": "A",
          "start": 298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000594335.5:c.299A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS394607"
    },
    {
      "@id": "http://reg.genome.network/allele/PA232051",
      "coordinates": [
        {
          "allele": "C",
          "end": 6977,
          "referenceAllele": "A",
          "start": 6976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "NM_000540.2:c.6847A>C",
        "LRG_766t1:c.6847A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000531.2:p.Asn2283His",
        "hgvsWellDefined": "NP_000531.2:p.Asn2283His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006598"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915962509",
      "coordinates": [
        {
          "allele": "C",
          "end": 6977,
          "referenceAllele": "A",
          "start": 6976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "NM_001042723.1:c.6847A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001036188.1:p.Asn2283His",
        "hgvsWellDefined": "NP_001036188.1:p.Asn2283His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009808"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6911,
          "referenceAllele": "A",
          "start": 6910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_006723317.1:c.6847A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723380.1:p.Asn2283His",
        "hgvsWellDefined": "XP_006723380.1:p.Asn2283His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074994"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6911,
          "referenceAllele": "A",
          "start": 6910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_006723319.1:c.6847A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723382.1:p.Asn2283His",
        "hgvsWellDefined": "XP_006723382.1:p.Asn2283His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074995"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6908,
          "referenceAllele": "A",
          "start": 6907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_011527204.1:c.6844A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525506.1:p.Asn2282His",
        "hgvsWellDefined": "XP_011525506.1:p.Asn2282His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094298"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6911,
          "referenceAllele": "A",
          "start": 6910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_011527205.1:c.6847A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525507.1:p.Asn2283His",
        "hgvsWellDefined": "XP_011525507.1:p.Asn2283His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094299"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6927,
          "referenceAllele": "A",
          "start": 6926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_006723317.2:c.6847A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723380.1:p.Asn2283His",
        "hgvsWellDefined": "XP_006723380.1:p.Asn2283His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540735"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6927,
          "referenceAllele": "A",
          "start": 6926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_006723319.2:c.6847A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723382.1:p.Asn2283His",
        "hgvsWellDefined": "XP_006723382.1:p.Asn2283His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540736"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6927,
          "referenceAllele": "A",
          "start": 6926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_011527205.2:c.6847A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525507.1:p.Asn2283His",
        "hgvsWellDefined": "XP_011525507.1:p.Asn2283His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548573"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6930,
          "referenceAllele": "A",
          "start": 6929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XR_001753735.1:n.6930A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600196"
    },
    {
      "@id": "http://reg.genome.network/allele/PA232051",
      "coordinates": [
        {
          "allele": "C",
          "end": 6986,
          "referenceAllele": "A",
          "start": 6985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "NM_000540.3:c.6847A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000531.2:p.Asn2283His",
        "hgvsWellDefined": "NP_000531.2:p.Asn2283His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674884",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000359596.8:c.6847A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000540.3:c.6847A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000352608.2:p.Asn2283His"
          },
          "RefSeq": {
            "hgvs": "NP_000531.2:p.Asn2283His"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA915962509",
      "coordinates": [
        {
          "allele": "C",
          "end": 6986,
          "referenceAllele": "A",
          "start": 6985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "NM_001042723.2:c.6847A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001036188.1:p.Asn2283His",
        "hgvsWellDefined": "NP_001036188.1:p.Asn2283His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676082"
    }
  ],
  "type": "nucleotide"
}