Allele Registry

Canonical Allele Identifier: PA891865177

Gene: RYR1 HGNC NCBI

ClinVar Variation Id: 590578

ClinVar Variation Id: 1210320

ClinVar RCV Id: RCV001580440

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Ser2345Arg	CA405667777 NM_000540.3:c.7033A>C CA405667781 NM_000540.3:c.7035C>G CA405667782 NM_000540.3:c.7035C>A