Allele Registry

Canonical Allele Identifier: PA2741826427

Gene: RYR1 HGNC NCBI

ClinVar Allele:

2990412

ClinVar RCV:

RCV003757580

ClinVar Variation:

2829750

HGVS (amino-acid)	Matching Registered Transcripts
NP_001036188.1:p.Arg44Pro	CA405671989 NM_001042723.2:c.131G>C