Allele Registry

Canonical Allele Identifier: PA231960

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000056179

RCV000119585

RCV001588884

RCV002513730

ClinVar Variation:

65932

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Asp60Asn	CA024309 NM_000540.3:c.178G>A