Allele Registry

Canonical Allele Identifier: PA915961795

Gene: RYR1 HGNC NCBI

ClinVar Allele:

171226

ClinVar RCV:

RCV000148815

RCV003441757

ClinVar Variation:

161368

HGVS (amino-acid)	Matching Registered Transcripts
NP_001036188.1:p.Gly707Ser	CA024327 NM_001042723.2:c.2119G>A