Canonical Allele Identifier: PA915962672
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 590598
ClinVar RCV Id: RCV000721675 RCV001862103 RCV002507268
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Arg2615Cys
CA405673535
NM_001042723.2:c.7843C>T