Allele Registry

Canonical Allele Identifier: PA2825423137

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000119565

RCV000721403

RCV001802864

ClinVar Variation:

133093

590474

HGVS (amino-acid)	Matching Registered Transcripts
NP_001036188.1:p.Asp4934Glu	CA024264 NM_001042723.2:c.14802C>A CA405692199 NM_001042723.2:c.14802C>G