Canonical Allele Identifier: PA2825421792
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133021
ClinVar RCV Id: RCV000119441 RCV000148797 RCV001331321 RCV002251988 RCV000655533 RCV000764196 RCV003993810 RCV003398723
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Tyr3928Cys
CA023938
NM_001042723.2:c.11783A>G