Allele Registry

Canonical Allele Identifier: PA658825229

Gene: RYR1 HGNC NCBI

ClinVar Allele:

536983

ClinVar RCV:

RCV000658391

RCV000765448

RCV004004190

ClinVar Variation:

546504

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Val2280Phe	CA405666532 NM_000540.3:c.6838G>T