Allele Registry

Canonical Allele Identifier: PA211777

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000148809

RCV000209988

RCV000655531

RCV001565509

RCV002265625

ClinVar Variation:

161367

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Arg986Cys	CA024378 NM_000540.3:c.2956C>T