Allele Registry

Canonical Allele Identifier: PA2825423052

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000056234

RCV000119547

ClinVar Variation:

65987

HGVS (amino-acid)	Matching Registered Transcripts
NP_001036188.1:p.Arg4888Pro	CA024223 NM_001042723.2:c.14663G>C