Canonical Allele Identifier: PA2499236751
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1007598
ClinVar RCV Id: RCV001304805
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Ala555Thr
CA405690506
NM_001042723.2:c.1663G>A