Allele Registry

Canonical Allele Identifier: PA2825422940

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000420141

ClinVar Variation:

379719

HGVS (amino-acid)	Matching Registered Transcripts
NP_001036188.1:p.Thr4827Asn	CA16607807 NM_001042723.2:c.14480C>A