Allele Registry

Canonical Allele Identifier: PA2573169979

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV001998858

RCV002074447

RCV004011057

ClinVar Variation:

1483609

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Leu4793Arg	CA405686849 NM_000540.3:c.14378T>G