Canonical Allele Identifier: PA105943
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 12970
ClinVar RCV Id: RCV000013837 RCV000119698 RCV000551243 RCV000612258 RCV001787719 RCV001787720 RCV001787721 RCV001787722 RCV001787724 RCV001787723 RCV001787725 RCV002288488 RCV002513026
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Gly2434Arg
CA024747
NM_000540.3:c.7300G>A
CA405669571
NM_000540.3:c.7300G>C