Canonical Allele Identifier: PA915962520
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 590578
ClinVar Variation Id: 1210320
ClinVar RCV Id: RCV001580440

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Ser2345Arg
CA405667777
NM_001042723.2:c.7033A>C
CA405667781
NM_001042723.2:c.7035C>G
CA405667782
NM_001042723.2:c.7035C>A