Allele Registry

Canonical Allele Identifier: PA2580146967

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV002628577

RCV004009497

ClinVar Variation:

2195315

HGVS (amino-acid)	Matching Registered Transcripts
NP_001036188.1:p.Arg2241Gly	CA068590 NM_001042723.2:c.6721C>G