Canonical Allele Identifier: PA232122
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133221
ClinVar RCV Id: RCV000119743 RCV000735351 RCV001802880 RCV000455061 RCV003997322 RCV004529992
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Glu2764Lys
CA024903
NM_000540.3:c.8290G>A