Canonical Allele Identifier: PA2580146334
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1708990
ClinVar RCV Id: RCV002288274

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Thr498Ser
CA405688799
NM_001042723.2:c.1492A>T
CA405688801
NM_001042723.2:c.1493C>G