Canonical Allele Identifier: PA915962494
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 568713
ClinVar RCV Id: RCV000689155 RCV001592874 RCV001592875 RCV004004294
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Arg2248Cys
CA068623
NM_001042723.2:c.6742C>T