Allele Registry

Canonical Allele Identifier: PA915961445

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000623845

RCV000721535

RCV000818782

RCV002497264

RCV003514380

ClinVar Variation:

499535

HGVS (amino-acid)	Matching Registered Transcripts
NP_001036188.1:p.Thr148Ile	CA066047 NM_001042723.2:c.443C>T