Allele Registry

Canonical Allele Identifier: PA2825421620

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000119431

RCV000147403

RCV000209962

RCV000297736

RCV000337752

RCV000391423

RCV000532001

ClinVar Variation:

133011

HGVS (amino-acid)	Matching Registered Transcripts
NP_001036188.1:p.Gln3751Glu	CA023907 NM_001042723.2:c.11251C>G