Allele Registry

Canonical Allele Identifier: PA645456512

Gene: RYR1 HGNC NCBI

ClinVar Allele:

415655

ClinVar RCV:

RCV000489943

ClinVar Variation:

426450

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Leu4851Pro	CA405687678 NM_000540.3:c.14552T>C