Canonical Allele Identifier: PA2573179551
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1482061
ClinVar RCV Id: RCV001994401

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Leu528Ile
CA405689608
NM_001042723.2:c.1582C>A