Allele Registry

Canonical Allele Identifier: PA2825423004

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000056251

RCV000119535

ClinVar Variation:

66004

HGVS (amino-acid)	Matching Registered Transcripts
NP_001036188.1:p.Tyr4859Cys	CA024196 NM_001042723.2:c.14576A>G