Allele Registry

Canonical Allele Identifier: PA105202

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000056173

RCV000119555

RCV002513729

ClinVar Variation:

65926

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Ala4906Val	CA024241 NM_000540.3:c.14717C>T