Allele Registry

Canonical Allele Identifier: PA2825422926

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000056232

RCV000119518

RCV001854163

RCV003996488

RCV004555852

ClinVar Variation:

65985

HGVS (amino-acid)	Matching Registered Transcripts
NP_001036188.1:p.Arg4820Cys	CA024150 NM_001042723.2:c.14458C>T