Canonical Allele Identifier: PA2825200483
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 960842
ClinVar RCV Id: RCV001234442

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Gly2328Arg
CA405667368
NM_000540.3:c.6982G>A
CA405667370
NM_000540.3:c.6982G>C