Canonical Allele Identifier: PA915962523
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133181
ClinVar RCV Id: RCV000119680 RCV001588959
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Glu2348Gly
CA024686
NM_001042723.2:c.7043A>G