Canonical Allele Identifier: PA2825202355
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 864497
ClinVar RCV Id: RCV001071703 RCV001355156 RCV004000205
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Ala3300Val
CA074314
NM_000540.3:c.9899C>T