Allele Registry

Canonical Allele Identifier: PA173338

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000119431

RCV000147403

RCV000209962

RCV000297736

RCV000337752

RCV000391423

RCV000532001

ClinVar Variation:

133011

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Gln3756Glu	CA023907 NM_000540.3:c.11266C>G