Allele Registry

Canonical Allele Identifier: PA106182

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000056211

RCV000119514

ClinVar Variation:

65964

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Leu4814Phe	CA024141 NM_000540.3:c.14440C>T