Canonical Allele Identifier: PA915961683
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133101
ClinVar RCV Id: RCV000119576 RCV000148805 RCV000655554 RCV001249073 RCV001449797
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Arg530His
CA024291
NM_001042723.2:c.1589G>A