Allele Registry

Canonical Allele Identifier: PA658804638

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000623845

RCV000721535

RCV000818782

RCV002497264

RCV003514380

ClinVar Variation:

499535

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Thr148Ile	CA066047 NM_000540.3:c.443C>T