Allele Registry

Canonical Allele Identifier: PA105191

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000056172

RCV000119525

RCV001390401

RCV003996484

ClinVar Variation:

65925

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Ala4846Val	CA024167 NM_000540.3:c.14537C>T