Canonical Allele Identifier: PA915961619
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 12968
ClinVar RCV Id: RCV000013835 RCV000119453 RCV001787718 RCV001787715 RCV001787717 RCV001787712 RCV001787713 RCV001787714 RCV001787716 RCV003231102 RCV003591629
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Ile403Met
CA023968
NM_001042723.2:c.1209C>G