Allele Registry

Canonical Allele Identifier: PA2825200294

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV002628577

RCV004009497

ClinVar Variation:

2195315

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Arg2241Gly	CA068590 NM_000540.3:c.6721C>G