Canonical Allele Identifier: PA915962601
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 12972
ClinVar RCV Id: RCV000013839 RCV000079164 RCV000793289 RCV001787735 RCV001787736 RCV001787737 RCV001787738 RCV001787733 RCV001787734 RCV001787739 RCV004017240
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Arg2458His
CA024787
NM_001042723.2:c.7373G>A