Allele Registry

Canonical Allele Identifier: PA2825423109

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000056186

RCV000119560

RCV001854161

ClinVar Variation:

65939

HGVS (amino-acid)	Matching Registered Transcripts
NP_001036188.1:p.Phe4916Ser	CA024251 NM_001042723.2:c.14747T>C