Allele Registry

Canonical Allele Identifier: PA105790

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000119696

RCV000148824

RCV001854585

RCV004525874

ClinVar Variation:

133194

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Asp2431Asn	CA024741 NM_000540.3:c.7291G>A