Allele Registry

Canonical Allele Identifier: PA2573179491

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV002008037

RCV004011032

ClinVar Variation:

1476084

HGVS (amino-acid)	Matching Registered Transcripts
NP_001036188.1:p.Gly248Trp	CA069619 NM_001042723.2:c.742G>T