Allele Registry

Canonical Allele Identifier: PA105619

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000056236

RCV000119545

RCV001046476

RCV002496742

RCV003996489

ClinVar Variation:

65989

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Arg4893Trp	CA024220 NM_000540.3:c.14677C>T