Canonical Allele Identifier: PA2825200280
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2960781
ClinVar RCV Id: RCV003817516

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Phe2239Cys
CA405666274
NM_000540.3:c.6716T>G