Canonical Allele Identifier: PA106428
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_000531.2:p.Tyr3933Cys
CA023938
NM_000540.3:c.11798A>G