Canonical Allele Identifier: PA2825419558
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3069511
ClinVar RCV Id: RCV004008055
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Glu508Gln
CA308123001
NM_001042723.2:c.1522G>C