Allele Registry

Canonical Allele Identifier: PA2825423140

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000056174

RCV000119566

RCV000529075

RCV001588883

RCV002222157

RCV004017358

ClinVar Variation:

65927

HGVS (amino-acid)	Matching Registered Transcripts
NP_001036188.1:p.Ala4935Thr	CA024266 NM_001042723.2:c.14803G>A