Canonical Allele Identifier: PA915962934
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 132990
ClinVar RCV Id: RCV000119401 RCV000148795 RCV000209956 RCV002251987 RCV003398722 RCV000655532 RCV000764194 RCV003993809 RCV001331317 RCV003333734
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Arg3366His
CA023812
NM_001042723.2:c.10097G>A