Canonical Allele Identifier: PA2499236877
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1174881
ClinVar RCV Id: RCV001529148

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Leu1812Pro
CA405655274
NM_001042723.2:c.5435T>C