Canonical Allele Identifier: PA2573180020
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1420549
ClinVar RCV Id: RCV001914362

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Ser1778Leu
CA066890
NM_001042723.2:c.5333C>T