Allele Registry

Canonical Allele Identifier: PA2825422597

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000552685

RCV000754735

RCV001449981

RCV003238776

RCV003999487

ClinVar Variation:

478187

HGVS (amino-acid)	Matching Registered Transcripts
NP_001036188.1:p.Arg4553Trp	CA060375 NM_001042723.2:c.13657C>T