Canonical Allele Identifier: PA106478
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 12976
ClinVar RCV Id: RCV000013845 RCV000119656 RCV000557804 RCV000578323 RCV001787765 RCV001787767 RCV001729347 RCV001787761 RCV001787762 RCV001787763 RCV001787764 RCV001787766 RCV003398498
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Val2168Met
CA024603
NM_000540.3:c.6502G>A