Allele Registry

Canonical Allele Identifier: PA232129

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000056229

RCV000119763

RCV001383436

RCV003996487

ClinVar Variation:

65982

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Arg2939Lys	CA024952 NM_000540.3:c.8816G>A