Allele Registry

Canonical Allele Identifier: PA231952

Gene: RYR1 HGNC NCBI

ClinVar Allele:

136847

ClinVar RCV:

RCV000119575

RCV001802865

ClinVar Variation:

133100

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Tyr522Cys	CA024287 NM_000540.3:c.1565A>G