Allele Registry

Canonical Allele Identifier: PA231818

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000056239

RCV000119465

RCV003996490

ClinVar Variation:

65992

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Ser427Leu	CA024005 NM_000540.3:c.1280C>T