Canonical Allele Identifier: PA106460
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 12993
ClinVar RCV Id: RCV000013865 RCV000013866 RCV000119574 RCV001787796 RCV001787797 RCV001787798 RCV001787800 RCV001787802 RCV001787799 RCV001787801
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Tyr522Ser
CA024286
NM_000540.3:c.1565A>C