Allele Registry

Canonical Allele Identifier: PA915961947

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000148809

RCV000209988

RCV000655531

RCV001565509

RCV002265625

ClinVar Variation:

161367

HGVS (amino-acid)	Matching Registered Transcripts
NP_001036188.1:p.Arg986Cys	CA024378 NM_001042723.2:c.2956C>T