Canonical Allele Identifier: PA658681116
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 478269

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Ala2391Val
CA069207
NM_000540.3:c.7172C>T