Canonical Allele Identifier: PA645456300
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 329065

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Ala2547Val
CA069906
NM_000540.3:c.7640C>T