Allele Registry

Canonical Allele Identifier: PA645456058

Gene: RYR1 HGNC NCBI

ClinVar Allele:

275550

ClinVar RCV:

RCV001590909

RCV002051701

ClinVar Variation:

291315

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Arg533Ser	CA10607101 NM_000540.3:c.1597C>A