Canonical Allele Identifier: PA2580146329
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2435548
ClinVar RCV Id: RCV003130447
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Ile490Val
CA405688518
NM_001042723.2:c.1468A>G