Allele Registry

Canonical Allele Identifier: PA208116

Gene: RYR1 HGNC NCBI

ClinVar Allele:

208582

ClinVar RCV:

RCV000194141

ClinVar Variation:

212096

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Arg530Leu	CA208114 NM_000540.3:c.1589G>T