Allele Registry

Canonical Allele Identifier: PA2825422924

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000119517

RCV000545453

RCV001802863

ClinVar Variation:

133070

HGVS (amino-acid)	Matching Registered Transcripts
NP_001036188.1:p.Leu4819Pro	CA024148 NM_001042723.2:c.14456T>C