Allele Registry

Canonical Allele Identifier: PA106451

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000056251

RCV000119535

ClinVar Variation:

66004

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Tyr4864Cys	CA024196 NM_000540.3:c.14591A>G