Canonical Allele Identifier: PA2825422517
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 478185
ClinVar RCV Id: RCV000551114 RCV000764199 RCV000623122 RCV001797108
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Pro4488Ala
CA059891
NM_001042723.2:c.13462C>G