Allele Registry

Canonical Allele Identifier: PA232112

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000119728

RCV000816104

RCV001802875

RCV002492411

RCV003997320

ClinVar Variation:

133212

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Thr2596Ile	CA024853 NM_000540.3:c.7787C>T