Canonical Allele Identifier: PA2825419389
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3070935
ClinVar RCV Id: RCV004014437

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Leu221Phe
CA405679435
NM_001042723.2:c.661C>T