Allele Registry

Canonical Allele Identifier: PA105518

Gene: RYR1 HGNC NCBI

ClinVar Allele:

1203997

ClinVar RCV:

RCV001591947

ClinVar Variation:

1214004

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Arg401Ser	CA405683844 NM_000540.3:c.1201C>A