Canonical Allele Identifier: PA915962331
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133143
ClinVar RCV Id: RCV000119632

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Ser1728Pro
CA024493
NM_001042723.2:c.5182T>C