Canonical Allele Identifier: PA915962649
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 643130
ClinVar RCV Id: RCV000796764
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.His2584Gln
CA405671930
NM_001042723.2:c.7752T>A
CA405671938
NM_001042723.2:c.7752T>G