Canonical Allele Identifier: PA2825201825
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 933321
ClinVar RCV Id: RCV001201508 RCV002480655
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Leu3003Val
CA405683572
NM_000540.3:c.9007C>G