Canonical Allele Identifier: PA2580146715
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2156194
ClinVar RCV Id: RCV003075335

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Met1647Thr
CA308092791
NM_001042723.2:c.4940T>C