Canonical Allele Identifier: PA2580146983
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2418522
ClinVar RCV Id: RCV003121271
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Val2416Met
CA405669205
NM_001042723.2:c.7246G>A