Allele Registry

Canonical Allele Identifier: PA645456454

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000489580

ClinVar Variation:

427029

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Phe4552Ile	CA405678249 NM_000540.3:c.13654T>A