Allele Registry

Canonical Allele Identifier: PA122812

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000013868

RCV000013869

RCV000119559

RCV002513027

ClinVar Variation:

12995

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Phe4921Thr	CA024248 NM_000540.3:c.14761_14762delinsAC