Canonical Allele Identifier: PA1139680118
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 948541
ClinVar RCV Id: RCV001219816

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Arg1727Gly
CA405654077
NM_001042723.2:c.5179C>G