Allele Registry

Canonical Allele Identifier: PA105747

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000119629

RCV001588951

ClinVar Variation:

133140

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Asp166Asn	CA024475 NM_000540.3:c.496G>A