Allele Registry

Canonical Allele Identifier: PA2825200704

Gene: RYR1 HGNC NCBI

ClinVar Allele:

3225308

ClinVar RCV:

RCV003990362

ClinVar Variation:

3065285

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Ala2428Ser	CA405669469 NM_000540.3:c.7282G>T