Allele Registry

Canonical Allele Identifier: PA915961474

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000119629

RCV001588951

ClinVar Variation:

133140

HGVS (amino-acid)	Matching Registered Transcripts
NP_001036188.1:p.Asp166Asn	CA024475 NM_001042723.2:c.496G>A