Allele Registry

Canonical Allele Identifier: PA105209

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000056174

RCV000119566

RCV000529075

RCV001588883

RCV002222157

RCV004017358

ClinVar Variation:

65927

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Ala4940Thr	CA024266 NM_000540.3:c.14818G>A