Allele Registry

Canonical Allele Identifier: PA915962576

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000119696

RCV000148824

RCV001854585

RCV004525874

ClinVar Variation:

133194

HGVS (amino-acid)	Matching Registered Transcripts
NP_001036188.1:p.Asp2431Asn	CA024741 NM_001042723.2:c.7291G>A