Canonical Allele Identifier: PA2573180184
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1357112
ClinVar RCV Id: RCV001880600

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Leu2418Val
CA405669256
NM_001042723.2:c.7252C>G