Allele Registry

Canonical Allele Identifier: PA105429

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000119737

RCV000817589

RCV001802876

RCV002288603

ClinVar Variation:

133217

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Arg2676Trp	CA024883 NM_000540.3:c.8026C>T