Allele Registry

Canonical Allele Identifier: PA232041

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000119664

RCV001580401

ClinVar Variation:

133166

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Val2212Asp	CA024628 NM_000540.3:c.6635T>A