Allele Registry

Canonical Allele Identifier: PA106174

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000056209

RCV000119508

RCV001854162

ClinVar Variation:

65962

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Leu4793Pro	CA024130 NM_000540.3:c.14378T>C