Allele Registry

Canonical Allele Identifier: PA2825423053

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000056235

RCV000119546

RCV001218792

RCV001588887

RCV004018985

ClinVar Variation:

65988

HGVS (amino-acid)	Matching Registered Transcripts
NP_001036188.1:p.Arg4888Gln	CA024221 NM_001042723.2:c.14663G>A