Allele Registry

Canonical Allele Identifier: PA2825194962

Gene: RYR1 HGNC NCBI

ClinVar Allele:

2990412

ClinVar RCV:

RCV003757580

ClinVar Variation:

2829750

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Arg44Pro	CA405671989 NM_000540.3:c.131G>C