Canonical Allele Identifier: PA915962559
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 478270
ClinVar RCV Id: RCV000558376 RCV002476209 RCV003129926
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Arg2398Cys
CA069218
NM_001042723.2:c.7192C>T