Canonical Allele Identifier: PA2499236745
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1214004
ClinVar RCV Id: RCV001591947
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Arg401Ser
CA405683844
NM_001042723.2:c.1201C>A