Canonical Allele Identifier: PA1139681063
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 838710
ClinVar RCV Id: RCV001040306

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Arg2575Pro
CA405671808
NM_001042723.2:c.7724G>C