Allele Registry

Canonical Allele Identifier: PA2580129537

Gene: RYR1 HGNC NCBI

ClinVar Allele:

1995030

ClinVar RCV:

RCV002650472

RCV004007531

RCV004017944

ClinVar Variation:

1943489

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Glu4167Lys	CA080694 NM_000540.3:c.12499G>A