Allele Registry

Canonical Allele Identifier: PA2825195234

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV002008037

RCV004011032

ClinVar Variation:

1476084

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Gly248Trp	CA069619 NM_000540.3:c.742G>T