Allele Registry

Canonical Allele Identifier: PA2825422035

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV002650472

RCV004007531

RCV004017944

ClinVar Variation:

1943489

HGVS (amino-acid)	Matching Registered Transcripts
NP_001036188.1:p.Glu4162Lys	CA080694 NM_001042723.2:c.12484G>A