Canonical Allele Identifier: PA915962618
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133207
ClinVar RCV Id: RCV000119719 RCV000528193 RCV001588961 RCV001788025 RCV001788027 RCV001788024 RCV001788026 RCV001788021 RCV001788022 RCV001788023
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Arg2508His
CA024821
NM_001042723.2:c.7523G>A