Allele Registry

Canonical Allele Identifier: PA915962332

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000119633

RCV000148807

RCV001057054

RCV001265978

RCV001449805

RCV002505055

ClinVar Variation:

133144

HGVS (amino-acid)	Matching Registered Transcripts
NP_001036188.1:p.Ser1728Phe	CA024494 NM_001042723.2:c.5183C>T