Allele Registry

Canonical Allele Identifier: PA2825422613

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000545985

RCV000721329

ClinVar Variation:

478188

HGVS (amino-acid)	Matching Registered Transcripts
NP_001036188.1:p.Leu4563Arg	CA405678840 NM_001042723.2:c.13688T>G