Allele Registry

Canonical Allele Identifier: PA2499233212

Gene: RYR1 HGNC NCBI

ClinVar Allele:

1056579

ClinVar RCV:

RCV001377444

ClinVar Variation:

1066439

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Arg4861Pro	CA405687804 NM_000540.3:c.14582G>C