Canonical Allele Identifier: PA2825421757
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 478163
ClinVar RCV Id: RCV000536226
ClinVar Variation Id: 642910
ClinVar RCV Id: RCV000796463
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Gln3894His
CA405661092
NM_001042723.2:c.11682G>C
CA405661093
NM_001042723.2:c.11682G>T