Allele Registry

Canonical Allele Identifier: PA915961685

Gene: RYR1 HGNC NCBI

ClinVar Allele:

208582

ClinVar RCV:

RCV000194141

ClinVar Variation:

212096

HGVS (amino-acid)	Matching Registered Transcripts
NP_001036188.1:p.Arg530Leu	CA208114 NM_001042723.2:c.1589G>T