Allele Registry

Canonical Allele Identifier: PA106317

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000013854

RCV000119413

ClinVar Variation:

12983

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Pro3527Ser	CA023845 NM_000540.3:c.10579C>T